No abstract

CONCLUSIONS: Systematic association of IgIA + ECZ is not supported for all neurological STEC-HUS pediatric patients; potential rescue therapy for severe cases warrants consideration.

CONCLUSIONS: Eculizumab is effective and safe in inducing and maintaining remission in aHUS secondary to anti-FH antibodies and renders reduction of anti-FH titers less urgent. Anti-FH antibody titers decreased in most patients irrespective of the immunosuppressive treatment chosen, so that a strategy consisting of combining eculizumab with MMF monotherapy seems sufficient at least in non-Indian or less severe forms of anti-FH antibody-associated HUS.

CONCLUSION: cIgAN with minimal proteinuria at time of biopsy might be linked with acute and chronic glomerular lesions.

CONCLUSION: A obinutuzumab and daratumumab combination seems to be a promising strategy in post-transplantation SRNS recurrence without response to standard treatment options.

Pediatric steroid-sensitive nephrotic syndrome (pSSNS) is the most common childhood glomerular disease. Previous genome-wide association studies (GWAS) identified a risk locus in the HLA Class II region and three additional independent risk loci. But the genetic architecture of pSSNS, and its genetically driven pathobiology, is largely unknown. Here, we conduct a multi-population GWAS meta-analysis in 38,463 participants (2440 cases). We then conduct conditional analyses and population specific...

No abstract

CONCLUSIONS: This study shows that ARA are frequent in children with FR/SDNS and that close immuno- and pharmacological monitoring may help personalizing rituximab treatment in patients needing repeated injections.

CONCLUSION: Global antiB cell strategy combining obinutuzumab and daratumumab induces prolonged peripheral B cell depletion and remission in children with difficult-to-treat SDNS.

Rituximab is an effective treatment for steroid-dependent/ frequently-relapsing nephrotic syndrome (SDFRNS) in children. However, the optimal rituximab regimen remains unknown. To help determine this we conducted an international, multicenter retrospective study at 11 tertiary pediatric nephrology centers in Asia, Europe and North America of children 1-18 years of age with complicated SDFRNS receiving rituximab between 2005-2016 for 18 or more months follow-up. The effect of rituximab prescribed...

CONCLUSIONS: This study confirms that NSAIDs reduce urine wasting of sodium and calcium in patients with BS. Monitoring serum renin levels may be useful to identify the lowest effective dose of NSAIDs that optimizes reduction of urine electrolyte losses.

CONCLUSIONS: The HR genotype is frequent in FSGS patients with African ancestry in our cohort, especially in those originating from the West Indies, and confer a poor renal prognosis. It is usually not associated with other causative mutations in monogenic SRNS genes.

CONCLUSIONS: High PWV and increased cIMT indicating arterial stiffness and hypertrophic vasculopathy may be present in children with ADPKD regardless BP status, and prior to GFR decline, suggesting that vascular disease precedes chronic kidney disease in ADPKD.

CONCLUSION: The finding of this MYH9 p.R424Q variant confirmed a diagnosis of MYH9-RD in these patients. MYH9 variants affecting the head domain typically result in severe thrombocytopenia. This recently reported head domain variant caused severe renal manifestations with mild thrombocytopenia and no manifestations of SNHL or cataracts in both patients, suggesting that this variant causes a renal-predominant form of MYH9-RD.

CONCLUSIONS AND RELEVANCE: In this population-based study, CCS were at increased risk for CKD and hypertension, which are associated with mortality, suggesting that early detection and treatment of these conditions in CCS may decrease late complications and mortality.

ANCA-associated vasculitis (AAV) is a group of rare small vessels vasculitis that preferentially affect the kidneys, lungs and upper airways. Although the detailed pathophysiology remains unclear, genetic background has been shown to play a role in sporadic forms of AAV. The discovery of these susceptibility genes (and associated biological pathways) involved in AAV have shaped the current understanding of AAV pathophysiology. In addition to common genetic polymorphisms, specific rare inborn...

BACKGROUND: Fabry disease (FD) is a rare, X-linked lysosomal storage disorder that affects both males and females. It is caused by pathogenic variants in the gene that encodes the enzyme α-galactosidase A, GLA. The classic form of the disease begins in childhood, presenting with a range of signs and symptoms that can lead to severe complications such as stroke, as well as cardiac and renal failure. In the late-onset form, the disease appears in adulthood, often with signs of cardiac involvement.

Childhood-onset systemic lupus erythematosus (cSLE) is a multi-systemic, inflammatory autoimmune disease that affects many organs including the heart. Pericardial effusion as a primary manifestation of SLE in early infancy is very rare. It has been reported as the first symptom of SLE in adult and adolescent case reports only and the youngest reported case was a three-year-old. We report a case of a 22-month-old infant who had previously been healthy but presented with pericardial effusion and a...

Data on the presentation of Autosomal Dominant Polycystic Kidney Disease (ADPKD) in children have been based on small/regional cohorts and practices regarding both asymptomatic screening in minors and genetic testing differ greatly between countries. To provide a global perspective, we analyzed over 2100 children and adolescents with ADPKD from 32 countries in six World Health Organization regions: 1060 children from the multi-national ADPedKD registry were compared to 269 pediatric patients...

CONCLUSION: Structural inequities in area-level child opportunity may contribute to disparities in both cSLE severity and disease control. Tailoring interventions for communities with low levels of child opportunity may improve access to pediatric subspecialty care and cSLE outcomes.

CONCLUSIONS: Identifying VUS is a recurring challenge in routine clinical genetics, particularly for patients with rare diseases or atypical phenotypes in underrepresented populations. This case underscores the benefit of timely genetic diagnosis taking into account the patient's request. VUS reassessment becomes more relevant when considering a kidney transplant not only as an appropriate procedure, but as the therapy of choice, especially considering the patient's history of complications with...

CONCLUSIONS AND RELEVANCE: In this case-control study, age-related neurodevelopmental differences were observed in pediatric patients with CKD compared with healthy peers. Reductions in cerebellar volume were associated with cognitive deficits and lower kidney function. These findings underscore the importance of monitoring neurodevelopmental trajectories in children with CKD, as early interventions may be necessary to mitigate cognitive impairments associated with CKD.

Fabry disease (FD) belongs to the group of lysosomal storage diseases (LSD), characterized by insufficient enzyme activity responsible for the intra-lysosomal breakdown of various substrates. The result is an uncontrolled accumulation of by-products of cellular metabolism. Lysosomal storage diseases are inherited and transmitted mainly in an autosomal recessive fashion. Without a positive family history, an early diagnosis can often be missed. In addition, the age of clinical manifestation can...

A renal cyst is the most common lesion of the kidney. Renal cysts are so ubiquitous that they are present in approximately 40% of the patients undergoing imaging. Cystic renal disease can be focal, multifocal, unilateral, or bilateral. Renal cysts can be acquired or the result of a congenital disease process. The acquired form is the most common.

Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic cause of renal failure worldwide. ADPKD is a multisystem and progressive inherited disorder with renal cyst formation, kidney enlargement, and extrarenal organ involvement (eg, liver, pancreas, spleen, cardiac, and arachnoid membranes).

Introduction. Health-related quality of life (HRQL) and its social consequences have not been evaluated in adults who started renal replacement therapy (RRT) in childhood/adolescence and are currently on hemodialysis. Population and methods. We compared 26 patients who started their RRT at 50 indicate good HRQL. Results. The study was conducted in 2018....

Background/Objectives: Hemolytic uremic syndrome (HUS) is a known cause of acute kidney injury in children, but there are few recent reports on its epidemiology and outcome. We aimed to investigate trends in the incidence and the long-term outcomes of both Shiga toxin-producing Escherichia coli -HUS (STEC-HUS) and atypical HUS (aHUS) in Poland over the last 12 years (2012-2023), based on the Polish Pediatric HUS and Pediatric Renal Replacement Therapy (RRT) Registries. Methods: A total of 436...

The efficacy and safety of rituximab in childhood steroid-resistant nephrotic syndrome (SRNS) remains unclear. Therefore, we conducted a retrospective cohort study at 28 pediatric nephrology centers from 19 countries in Asia, Europe, North America and Oceania to evaluate this. Children with SRNS treated with rituximab were analyzed according to the duration of calcineurin inhibitors (CNIs) treatment before rituximab [6 months or more (CNI-resistant) and under 6 months]. Primary outcome was...

Paroxysmal cold hemoglobinuria (PCH) is among the rarest forms of autoimmune hemolytic anemia, most often seen in young children. PCH is caused by a biphasic immunoglobulin G antibody that binds to red cells at low temperatures and causes complement-mediated lysis as the temperature is raised. Diagnosis is based on high clinical suspicion followed by confirmation of the presence of Donath-Landsteiner antibodies. We have described 3 cases diagnosed with PCH over a span of 1 year, 2 cases...

To promote improved trial design in upcoming randomized clinical trials in childhood chronic kidney disease (CKD), insight in the within- and inter-patient variability of uremic toxins with its nutritional, treatment- and patient-related confounding factors is of utmost importance. In this study, the within- and inter-patient variability of a selection of uremic toxins in a longitudinal cohort of children diagnosed with CKD was assessed, using the intraclass correlation coefficient (ICC) and the...

Early-onset systemic lupus erythematous (SLE) is a distinct clinical entity characterized by the onset of disease manifestations during childhood. Despite some similarities to patients who are diagnosed during adulthood, early-onset SLE typically displays a greater disease severity, with aggressive multiorgan involvement, lower responsiveness to classical therapies, and more frequent flares. Lupus nephritis is one of the most severe complications of SLE and represents a major risk factor for...

CONCLUSION: Concomitant inheritance of ADPKD and development of WT are extremely rare, and manifestations of ADPKD may not present until late childhood or adulthood. ADPKD is not a known predisposing condition for WT. When ADPKD diagnosis is made by family history, imaging, and/or genetic testing before WT diagnosis and treatment, the need for extensive preoperative characterization of cystic kidney lesions in children and increased risk of post-nephrectomy kidney failure warrant further...

While it is widely accepted that the nutritional management of the infant with chronic kidney disease (CKD) is paramount to achieve normal growth and development, nutritional management is also of importance beyond 1 year of age, particularly in toddlers, to support the delayed infantile stage of growth that may extend to 2-3 years of age. Puberty is also a vulnerable period when nutritional needs are higher to support the expected growth spurt. Inadequate nutritional intake throughout childhood...

CONCLUSION: In our cohort of patients with cloacal malformations following a strict renal protection protocol, incidence of progressive renal dysfunction is low at 2.9%. Most who go on to renal dysfunction present with impaired renal function.

CONCLUSION: The present study demonstrated that, especially IxS contributes to a lower height velocity in (pre)school children, whereas we could not find a role for uremic toxins with height velocity during pubertal stages.

BACKGROUND: This case report presents a history of familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC). The patient was admitted to the hospital with hypertensive encephalopathy. FHHNC is a rare autosomal recessive disease caused by mutations in CLDN16 or CLDN19, resulting in insufficient magnesium and calcium kidney reabsorption. FHHNC manifestation starts in childhood, and over the years, its development leads to nephrocalcinosis and, consequently, chronic kidney disease...

A 14-year-old patient presents with hematuria and proteinuria. Clinical evaluation reveals a positive anti-nuclear antibody titer, positive anti-double stranded DNA antibody and hypocomplementemia. Systemic lupus erythematosus (SLE) is diagnosed based on the 2019 EULAR/ACR (European League Against Rheumatism/American College of Rheumatology) classification criteria (Aringer et al. Arthritis Rheumatol 71:1400-1412, 2019). A kidney biopsy is performed that confirms the presence of immune complex...

CONCLUSIONS: Acute renal toxicity was frequent during chemotherapy and did not allow identification of children at risk for long-term toxicity. A role of ALDH in late renal dysfunction is possible so further exploration of its enzymatic activity and polymorphism should be encouraged to improve the understanding of ifosfamide-induced nephrotoxicity.

CONCLUSION: Gaps and fragmentation of pediatric health services may lead to the risk of delayed or inadequate referral of European children with kidney disease to pediatric nephrologists. The diversity of patient pathways outside of normal working hours was identified as one of the major weaknesses in the service chain.

CONCLUSIONS: Infants and toddlers with kidney failure are at risk of developmental delays and later neurodevelopmental disorders. Dialysis is associated with cognitive and motor delays independent of prematurity and epilepsy.

CONCLUSION: This rare case documents the possible occurrence of late clinical presentation and long survival in primary oxalosis with extra renal complications.

CONCLUSIONS: Childhood APSGN remains an important health problem in South Africa (SA) with favourable outcomes in most, apart from those with crescentic glomerulonephritis who progressed to kidney failure.

CONCLUSIONS: This first nationwide study of pediatric chronic dialysis in Saudi Arabia sheds light on the prevalence of children undergoing chronic dialysis and underlying causes of their KF, thereby contributing to our understanding of clinical management considerations. This research serves as a stepping stone for the development of national registries.

Varicella Zoster Virus (VZV) infection is a common childhood exanthematous disease, which in adults and immunocompromised people may result in severe neurologic complications. Up to one-third of infected subjects may have VZV clinical reactivation particularly if immunocompromised. Patients affected by end-stage renal disease on hemodialysis present immunodepression that contributes to their higher incidence of VZV infections and reactivation. While antiviral treatment in these patients shows...

CONCLUSIONS: Creating an AVF for hemodialysis is a successful vascular access strategy for pediatric and adolescent patients. Proximal radial artery AVFs provided safe and functional access when a distal AVF was not feasible. Cumulative AVF patency was 85% at 36 months.

Primary hyperoxaluria type 2 (PH2) is a rare genetic disorder characterized by excessive oxalate production due to glyoxylate metabolism alterations. This case report presents a 26-year-old male with PH2 who experienced recurrent nephrolithiasis since childhood, leading to end-stage renal disease (ESRD). The patient's history prompted genetic testing, which revealed a heterozygous missense variant in the GRHPR gene, confirming PH2. Early genetic diagnosis is crucial for preventing ESRD and...

CONCLUSION: Exome sequencing in an unbiased Israeli nationwide dialysis-treated kidney failure pediatric cohort resulted in a genetic diagnostic yield of 45% and can often affect clinical decision making.

Nephrotic syndrome affects about 2-7 per 100,000 children yearly and accounts for less than 15% of end stage kidney disease. Steroids still represent the cornerstone of therapy achieving remission in 75-90% of the cases The remaining part result as steroid resistant nephrotic syndrome, characterized by the elevated risk of developing end stage kidney disease and frequently presenting disease recurrence in case of kidney transplant. The pathogenesis of nephrotic syndrome is still far to be...

CONCLUSION: In this educational review, we highlight what is known on the topic of neurocognition and neuroimaging in the pediatric KT population.

Chronic kidney disease (CKD) mineral and bone disorder (MBD) comprises a triad of biochemical abnormalities (of calcium, phosphate, parathyroid hormone and vitamin D), bone abnormalities (turnover, mineralization and growth) and extra-skeletal calcification. Mineral dysregulation leads to bone demineralization causing bone pain and an increased fracture risk compared to healthy peers. Vascular calcification, with hydroxyapatite deposition in the vessel wall, is a part of the CKD-MBD spectrum...

The occurrence of secondary neoplasms in adult patients treated with chemotherapy in childhood is not uncommon. Prior chemotherapy is found to be an independent risk factor for the development of secondary malignancies, which are usually associated with a worse prognosis. The presented case is a 35-year-old female patient who was diagnosed with Ewing sarcoma in her late adolescence. The tumor was successfully treated with chemotherapy, but 3 years later she was diagnosed with T-cell...

X-linked Alport syndrome is a hereditary progressive renal disease resulting from the disruption of collagen α3α4α5 (IV) heterotrimerization caused by pathogenic variants in the COL4A5 gene. This study aimed to report a male case of X-linked Alport syndrome with a mild phenotype accompanied by an atypical expression pattern of type IV collagen α5 [α5 (IV)] chain in glomerulus. A 38-year-old male presented with proteinuria (2.3 g/day) and hematuria. He has been detected urinary protein and occult...

CONCLUSIONS: Urine sTLR4 may be used as a useful biomarker in predicting UTI and subsequent pyelonephritis in children with UTI. A higher resolution version of the Graphical abstract is available as Supplementary information.

CONCLUSION: Add-on rituximab is an effective and safe rescue therapy for cLN patients with life-/organ-threatening manifestations or treatment-resistance. A higher resolution version of the Graphical abstract is available as Supplementary information.

Background: Children and young adults with sickle cell disease (SCD) develop kidney disease early in childhood with some patients progressing to require dialysis and kidney transplantation. The prevalence and outcomes of children with end stage kidney disease (ESKD) due to SCD is not well described. This study aimed to assess the burden and outcomes of ESKD in children and young adults with SCD in a large national database. Methods: Utilizing the United States Renal Data System (USRDS) we...

We received a call from a transplant coordinator about the availability of a consented deceased donor. En-bloc kidneys with the aorta and IVC (inferior vena cava) were harvested from a toddler weighing 8 kg. The recipient was of early childhood weighing 14 kg who had been on haemodialysis for the last 3 years for end-stage kidney disease. He received anti-thymocyte globulin as an induction immunosuppressant. The kidneys were transplanted en bloc in the right lower quadrant retroperitoneal...

Systemic lupus erythematosus (SLE) is an autoimmune disease causing significant morbidity and mortality, despite important improvements in its management in the last decades. The objective of this work is to investigate the role of IFN-γ in the pathogenesis of childhood-onset systemic lupus erythematosus (cSLE), evaluating the crosstalk between IFN-α and IFN-γ and the expression of T-bet, a transcription factor induced by IFN-γ, in B cells of patients with cSLE. Expression levels of both IFN-α...

CONCLUSIONS: Although the association between unilateral renal artery stenosis and HHS has been previously shown, this is the first report of atypical HHS, with hypertension preceded by tubular dysfunction, recognized in the framework of moyamoya disease.

Pediatric steroid-sensitive nephrotic syndrome (pSSNS) is the most common childhood glomerular disease. Previous genome-wide association studies (GWAS) identified a risk locus in the HLA Class II region and three additional independent risk loci. But the genetic architecture of pSSNS, and its genetically driven pathobiology, is largely unknown. Here, we conduct a multi-population GWAS meta-analysis in 38,463 participants (2440 cases). We then conduct conditional analyses and population specific...

CONCLUSIONS: We speculate that stable and unmodified immunosuppressive therapy, started before the era of calcineurin inhibitors, the lack of significant rejection episodes, the absence of donor-specific antibodies, and the young donor age have contributed to maintaining exceptional long-term kidney transplant survival. Luck, a robust health system and an adherent patient are also important. To the best of our knowledge, this is the longest functioning kidney transplant from a deceased donor...

CLINICAL CHARACTERISTICS: Urofacial syndrome (UFS; also known as Ochoa syndrome) is characterized by prenatal or childhood onset of urinary bladder voiding dysfunction, abnormal facial movement with expression (resulting from abnormal co-contraction of the corners of the mouth and eyes), and often bowel dysfunction (constipation and/or encopresis). Bladder voiding dysfunction can present before birth as megacystis. In infancy and later childhood, UFS can present with a poor urinary stream and...

CLINICAL CHARACTERISTICS: Fabry disease is the most common of the lysosomal storage disorders and results from deficient activity of the enzyme alpha-galactosidase A (α-Gal A), leading to progressive lysosomal deposition of globotriaosylceramide and its derivatives in cells throughout the body. The classic form, occurring in males with less than 1% α-Gal A enzyme activity, usually has its onset in childhood or adolescence with periodic crises of severe pain in the extremities (acroparesthesia),...

CLINICAL CHARACTERISTICS: WT1 disorder is characterized by congenital/infantile or childhood onset of steroid-resistant nephrotic syndrome (SRNS), a progressive glomerulopathy that does not respond to standard steroid therapy. Additional common findings can include disorders of testicular development (with or without abnormalities of the external genitalia and/or müllerian structures) and Wilms tumor. Less common findings are congenital anomalies of the kidney and urinary tract (CAKUT),...

Congenital nephrotic syndrome of the Finnish type is caused by pathogenic variants in NPHS1 encoding for nephrin. Assessing pathogenicity of genetic variants is notoriously difficult as suitable experimental models are lacking. In this issue of Kidney International, Wolff et al. report on an NPHS1 variant validation assay that is based on the formation of slit diaphragm-like structures by the overexpression of human nephrin in Drosophila nephrocytes.

This case report highlights a rare association between membranous nephropathy (MN) and papillary thyroid carcinoma (PTC) in a 66-year-old female with progressive renal dysfunction. Following a confirmed diagnosis of MN with negative phospholipase A2 receptor (PLA2R) staining, imaging revealed a thyroid malignancy, and total thyroidectomy led to clinical improvement, suggesting a paraneoplastic mechanism. This case underscores the importance of oncologic screening in MN patients and the need for...

CONCLUSION: Diagnosing fibronectin glomerulopathy could be challenging in many developing nations due to a lack of proper pathological and genetic testing infrastructure. Improving local health infrastructure for kidney tissue diagnosis could improve diagnostic accuracy, better guide management, and help avoid the administration of unnecessary medications with a potential for serious adverse events.

CONCLUSION: Overall, this study demonstrated that ZWT alleviates NS by upregulating MB via the 5-HTR1B/AMPK/PGC-1α signaling. This novel mechanism enriches the reference of ZWT for NS therapy.

Galloway-Mowat syndrome (GAMOS) is a rare autosomal recessive genetic disorder that is underrecognized. The phenotype is heterogeneous, but it is now widely accepted that early-onset nephrotic syndrome (SRNS) and microcephaly with brain malformation are characteristic features of Galloway-Mowat syndrome. Although the five subunits that encode the KEOPS complex, OSGEP/TP53RK/TPRKB/LAGE3/GON7, are known to cause Galloway-Mowat syndrome, the mutation of the WDR73, WDR4, NUP107, NUP133, and PRDM15...

Thrombotic microangiopathy (TMA) is a rare but potentially severe condition induced by cancer treatments, including angiogenesis inhibitors and immune checkpoint inhibitors. This case report presents the first documented instance of renal-limited TMA potentially triggered by fruquintinib and tislelizumab in a patient with metastatic rectal cancer. A 60-year-old woman with stage IIIB rectal cancer developed nephrotic syndrome following treatment with fruquintinib and tislelizumab. She had no...

Background Although it is not a criterion for diagnosis, dyslipidemia is frequently found in nephrotic syndrome (NS). Cholesterol, triglyceride, and low-density lipoprotein (LDL) are usually elevated in NS, and high-density lipoprotein (HDL) can be normal or minimally decreased. Dyslipidemia in NS has been studied in isolation of the underlying glomerulopathy, and the comparison of lipid values between membranous nephropathy (MN), minimal change disease (MCD), and focal segmental...

Primary podocytopathies are a group of disorders characterized by nephrotic syndrome and frequent progression to kidney failure, with high rates of post-transplant recurrence. Increased expression of the urokinase-type plasminogen activator receptor (uPAR) has been associated with podocyte dysfunction in primary podocytopathies. uPAR can interact with formyl peptide receptors (FPRs) in podocytes, but the relevance of this signalling pathway in these diseases remains unclear. We retrospectively...

Background/Aim: Fibrillary glomerulonephritis (FGN) is a rare glomerular disease characterized by non-amyloid fibrillary deposits in the glomeruli and positive staining for DNAJB9. There is currently no treatment of choice, and the poor prognosis highlights the need for further research. We aimed to investigate the clinical and pathological characteristics and outcomes of FGN patients from a tertiary nephrology center. Methods: A retrospective cohort study of eleven patients diagnosed with FGN...

Membranous nephropathy (MN) stands as the most common origin of nephrotic syndrome in adults. Nevertheless, it is quite unusual for individuals to simultaneously manifest both chronic inflammatory demyelinating polyneuropathy (CIDP) and MN along with the presence of positive anti-contactin-1 (CNTN1) antibodies. Only a limited number of case reports in scientific literature have described such occurrences to date. Typically, CIDP patients exhibit symptoms characterized by proximal and distal...

Chyluria, defined as the presence of chyle in urine, is a rare condition caused by an abnormal communication between the lymphatic system and the urinary tract. It can present with massive proteinuria and characteristic milky urine, mimicking nephrotic syndrome. We report the case of a 23-year-old woman with a history of seronegative ocular myasthenia gravis who developed progressive bilateral lower extremity oedema and intermittent nephrotic-range proteinuria despite normal serum albumin and...

This case report presents a scenario of pulmonary embolism (PE) and renal vein thrombosis (RVT) in a young patient with a recent diagnosis of nephrotic syndrome (NS). The presence of a clinical condition characterised by a marked non-selective proteinuria, which may correlate with reduced drug concentration, has raised doubts about the most appropriate anticoagulant therapeutic choice. A 34-year-old male patient presented to the emergency department with dyspnea, chest pain and hypotension. Two...

To our knowledge, this is the first reported case of a pulmonary mixed infection involving Nocardia cyriacigeorgica, Stenotrophomonas maltophilia, and human cytomegalovirus (HCMV) in a patient with minimal change nephrotic syndrome (MCNS), which is of great clinical significance. We report the case of an 18-year-old male with a two-month history of MCNS who was admitted due to fever, cough, and bright red hemoptysis. Upon admission, he was treated with piperacillin/tazobactam and moxifloxacin...

No abstract

Objectives Brain abscess is a worrisome condition with a 1-year mortality rate of 21% and a 32% rate of new-onset epilepsy. Brain magnetic resonance imaging (MRI) is strongly recommended as a screening modality with contrast-enhanced T1-weighted images, diffusion-weighted imaging (DWI), and attenuated diffusion coefficient. However, there is a 10% rate of false negative, which could potentially impact management and prognosis. Our systematic review aims at identifying risk factors for false...

CONCLUSION: This case underscores the need for careful diagnosis and management of DRESS syndrome with atypical renal involvement. It highlights the importance of early identification and discontinuation of the offending drugs, as well as the necessity for further research to understand the complex renal manifestations in DRESS syndrome.

CONCLUSIONS: This report is the first to document patients with LAGE3 variants who do not exhibit microcephaly, developmental delay, or neurological abnormalities. Additionally, it is the first case where proteinuria manifested at an older age and had a positive prognosis. The two siblings represent the 7th and 8th cases of children with LAGE3 variants, expanding the genotype and phenotype spectrum of LAGE3 variants, providing new insights for clinical diagnosis and risk assessment.

CONCLUSIONS: Our results indicate that the prothrombotic state in nephrotic syndrome is driven by excessive thrombin generation and impaired fibrinolysis rather than increased platelet aggregation. In line with current guideline recommendations, this supports the rationale for antithrombotic strategies targeting secondary hemostasis rather than platelet function in patients with nephrotic syndrome.

Pancreatic neuroendocrine tumors (pNETs) are rare, heterogenous neoplasms originating from pancreatic neuroendocrine cells, which regulate hormone secretion and metabolic homeostasis. Surgery is the primary method of control and potential cure for pNETs and targeted therapies have also been investigated for low-grade inoperable or distant metastatic pNETs. Surufatinib, an oral angio-immuno kinase inhibitor, is approved for treating inoperable or late-stage, low-grade (G1 and G2),...

CONCLUSIONS: Higher serum albumin levels at onset can predict the presence of genetic variants. Pathologic features might have limited utility in predicting them.

CONCLUSIONS: Compound heterozygous mutations in the PLCE1 gene can lead to rapid progression of the disease to end-stage renal disease, with favorable outcomes following kidney transplantation. Family screening is crucial for early diagnosis, and medullary sponge kidney may be a novel phenotype associated with these gene mutations.

Nephrotic syndrome (NS) in children is associated with hyperhomocysteinemia, increasing the risk of cardiovascular disease. The deficiency of vitamins B6, B12, and folate contribute to elevated homocysteine levels, yet limited interventional studies have evaluated the effects of vitamin supplementation in pediatric NS patients. This study investigated the effect of folic acid, vitamin B6, and vitamin B12 supplementation on plasma homocysteine levels in Nigerian children with NS. A single-blind,...

CONCLUSIONS: Belimumab showed comparable effectiveness and safety in LN patients with NS, providing valuable evidence for its real-world clinical use.

CONCLUSIONS: Ephrin-B1 at slit diaphragm suppresses cdc42 activity by preventing the interaction of Par6 with cdc42 and functions to keep the specialized phenotype of podocytes. Elevated cdc42 activity induced by the binding of Par6, released by the phosphorylated ephrin-B1, is a critical initiation event leading to proteinuria in the anti-nephrin antibody-induced nephropathy.

Late-onset cardiac manifestations of Fabry disease are frequently associated with high rates of missed diagnoses and misdiagnoses. We present a case of a 71-year-old male with late-onset Fabry disease whose diagnosis was delayed due to the absence of typical symptoms. The patient has a history of nephrotic syndrome and is currently suffering from end-stage renal disease (ESRD), undergoing maintenance hemodialysis. He was previously diagnosed with diffuse left ventricular hypertrophy and heart...

CONCLUSION: We reported a case of synchronous papillary renal neoplasm with reverse polarity with membranous nephropathy. The mechanism of renal tumor-associated nephrotic syndrome is unclear and more medical records are needed for research.

CONCLUSIONS: BI 764198 was well tolerated and could be taken with/without food; evaluation in FSGS is ongoing.

Stem cell factor (SCF) is a type of hematopoietic cytokine that functions in early hematopoietic stem cells. SCF, together with its cognate receptor c-kit, plays crucial roles in cell survival, proliferation, and differentiation. A dysregulated SCF/c-kit system is reportedly, associated strongly with various kinds of cancer in humans. However, the function and mechanism of SCF in non-small cell lung cancer (NSCLC) remains to be elucidated to date. In this context, the present study attempted to...

CONCLUSION: The epidemiology of kidney amyloidosis has changed over the past 30 years. Biopsy incidence of non-AA is increased, and findings may suggest an earlier diagnosis. Amyloid typing has improved over time and is reflected in more precise amyloid diagnoses and reduced number of undetermined cases in recent years. Although AA related to rheumatic disease is declining, AA amyloidosis in people who inject drugs represents a growing challenge. The changing epidemiology of kidney amyloidosis...

CONCLUSIONS: Based on exposure-response analyses and established model simulations, we proposed stratified dosing recommendations tailored to patient characteristics, aiming to optimize MMF therapy in pediatric patients.

CONCLUSIONS: By simultaneously enhancing therapeutic efficacy, minimizing systemic toxicity, and enabling personalized imaging-guided treatment, Dex@NBs-TRPC6 introduces a transformative approach to GC-based renal therapy.

CONCLUSION: MHD patients treated with Roxadustat experienced fewer fluctuations in blood pressure compared to those treated with rHuEPO, and Roxadustat was more effective at increasing hemoglobin levels without compromising efficacy relative to ESAs.

Dent disease is a rare X-linked recessively inherited renal tubulopathy, caused by variants in CLCN5 (Dent disease type 1, DD1) and OCRL (Dent disease type 2, DD2) and characterized by low molecular weight proteinuria, hypercalciuria, microscopic hematuria, or nephrocalcinosis. In the current study, we collected and analyzed clinical data and genetic testing results of 21 children diagnosed with Dent disease, who were hospitalized at the Department of Nephrology, Children's Hospital of Nanjing...

Background: Visceral leishmaniasis (VL) is a systemic parasitic disease with diverse clinical manifestations, primarily affecting the spleen, liver, and bone marrow. While renal involvement in VL is well documented, it is often mild and resolves with effective treatment. However, severe renal complications, such as membranoproliferative glomerulonephritis (MPGN), are rare and typically associated with immunocompromised individuals. Case Report: We report the case of a 30-year-old male from a...

CONCLUSION: Baseline serum MMP-9 levels during the nephrotic phase were associated with subsequent recurrence in patients with INS, indicating its potential as a predictive marker for future recurrence in patients with INS.

CONCLUSIONS: The mortality rate of CMV respiratory infection was found to be high, especially in patients with connective tissue diseases, cancer chemotherapy and radiation therapy, interstitial pneumonia, and non-immunocompromised patients. In patients on long-term immunosuppressants and corticosteroids, particularly within the first 6 months, vigilance needs to be exercised for CMV respiratory infection.

No abstract

Dysregulation of immune cells and cytokines, particularly T helper 17 (Th17) cells and their associated cytokines, is implicated in the pathogenesis of both systemic lupus erythematosus (SLE) and chronic kidney disease (CKD). This study aimed to investigate the serum levels of Th17-related cytokines (interleukin [IL]-17A, IL-21, IL-22, and IL-23) in CKD patients with and without SLE and explore their potential role in disease progression. A total of 118 participants were included, comprising 78...

Transient receptor potential canonical 6 (TRPC6) is a receptor-operated nonspecific cation channel. To date, more than 30 TRPC6 variants have been reported to focal segmental glomerulosclerosis (FSGS), which can present from infancy to adulthood and is characterized by proteinuria and often nephrotic syndrome leading to kidney failure. These variants may exhibit gain-of-function (e.g. K874X) or loss-of-function (e.g. L395A, G757D) phenotypes, making the role of TRPC6 in FSGS controversial. Here,...

CONCLUSIONS: BI 764198 was well tolerated; exposure increased near dose proportionally to 80 mg, as previously observed in predominantly White volunteers.

Genetic causes of steroid-resistant-nephrotic-syndrome (SRNS) represent a rapidly growing number of monogenic diseases. The reported diagnostic yield of various studies applying genetic panels and exome-sequencing to diagnose SRNS is usually < 30%. We performed genome-sequencing in a cohort of Egyptian SRNS patients. We recruited 47 SRNS patients belonging to 41 unrelated families [28 males/19 females; median (range): 6 (0.5-22 years)]. We established a pipeline for genome sequencing,...

CONCLUSION: TIL is frequently associated with idiopathic membranous nephropathy, with more severe clinical manifestations and pathologic features, and idiopathic membranous nephropathy patients with TIL have a lower disease remission rate and worse overall renal prognosis. Hypertension, globular/segmental glomerulosclerosis, and intimal thickening of small renal arteries are independent risk factors for the development of TIL in patients with idiopathic membranous nephropathy.

CONCLUSIONS: Findings from our studies identified that glomerular pathophysiology and disruption of the filtration barrier is associated with alternative splicing and polyadenylation of glomerular genes, many of which are crucial determinants of podocyte structure and function and the slit diaphragm complex.

No abstract

Nephrotic syndrome in children with visceral leishmaniasis (VL) is an uncommon presentation, often accompanied by other clinical signs such as febrile splenomegaly. This report highlights two cases of VL in immunocompetent children admitted to Mohamed VI University Hospital in Marrakech, who developed nephrotic syndrome as a complication. One child unfortunately passed away, while the other responded well to treatment with corticosteroids and pentavalent antimonial drugs, showing favorable...

CONCLUSION: Elevated serum SHBG concentrations were directly associated with an increased risk of primary MN in males. Further research is needed to explore the effectiveness of SHBG in assessing and predicting MN risk.

CONCLUSION: Our study shows unique clinical and genetic correlations of TRPC6-AP, which may enable personalised care and promising novel therapies.

Allogeneic hematopoietic progenitor cell transplantation is a widely used procedure, and graft-versus-host disease (GVHD) is a common complication. Glomerular involvement due to GVHD is exceptional.

Pediatric nephrotic syndrome remains a complex clinical entity, with incompletely elucidated pathogenetic mechanisms, in which oxidative stress appears to have a substantial etiopathogenic role. Recent evidence supports the involvement of redox imbalance in podocyte damage, impaired glomerular function, and systemic decline. All this suggests that antioxidant interventions can favorably modulate the course of the disease. This narrative review aims to synthesize the most relevant data from the...

No abstract

CONCLUSIONS: Although some SOT recipients may benefit from HCT, the incidence of SOT graft failure was high and OS was poor, particularly after allogeneic HCT.

CONCLUSION: This study demonstrates significant improvements in height development, pubertal progression, and social adaptation following kidney transplantation in pediatric recipients. While recipient gender, pre-transplant dialysis modality, and dialysis duration showed no significant impact on near-final height (NFH), both transplantation age and height at transplantation significantly influenced NFH attainment. These findings emphasize that early transplantation and maintaining optimal graft...

Chronic kidney disease (CKD) has a genetic origin in 10% of patients. The most effective and cost-beneficial genetic testing methodology is debated. A multicenter, retrospective analysis of 692 patients with panel genetic testing (44 genes) evaluated the diagnostic yield, independent predictors of genetic diagnoses, and clinical impact. Diagnostic variants identified totaled 252, resulting in a 36% yield. The highest yields were associated with cystic disease (49%). No diagnostic variants were...

CONCLUSION: This study is the first to demonstrate the role of HucMSC-sEVs in attenuating renal IRI both in vitro and in vivo through the modulation of the GOLIM4/PI3K/AKT pathway via miR-202-5p. These findings identify a novel molecular target for the treatment of AKI via HucMSC-sEVs and provide a strong theoretical basis for their potential clinical application.

CONCLUSION: We reported personalized early, noninvasive diagnosis and regenerative treatments for calciphylaxis patients with MPC. Although the current hAMSC treatment regimen is effective for skin lesions, its impact on MPC requires further investigation.

CONCLUSION: DTI in pediatric kidney transplants is feasible and showed differences in FA and track length values when compared to controls. However, in our limited dataset, DTI did not find differences within the allograft group.

No abstract

ANCA-associated vasculitis (AAV) is comprised of three specific conditions: granulomatosis with polyangiitis (GPA), microscopic polyangiitis (MPA) and eosinophilic granulomatosis with polyangiitis (EGPA). Since the publication of the last British Society for Rheumatology (BSR) and British Health Professionals in Rheumatology (BHPR) guideline for the management of adults with AAV in 2014, a plethora of randomized controlled trials, additional research and recommendations have provided novel...

CONCLUSIONS: The robotic approach to liver transplantation has demonstrated feasibility and promising short-term outcomes. However, extended follow-up is required to confirm these results over the long term with the aim to confirm outcomes comparable to benchmark results of open transplantation.

CONCLUSIONS: CHD patients have increased inhospital resource utilization compared to non-CHD, but no difference in long-term outcomes. However, differences in willingness to transplant cannot be assessed with this data. Further work is needed to better understand the impact of CHD on management decisions and outcomes across the kidney disease continuum.

CONCLUSIONS: This cohort of ACHD patients had a 92.9% 1-year survival rate, consistent with other high-volume centers in the United States. In this paper, we discuss our institutional practices that address barriers to transplant for ACHD patients, such as early referral for transplant, indications for listing, pretransplant embolization of collateral vessels, and multiorgan transplant.

CONCLUSION: These findings highlight the importance of standardizing antibody detection methods.

During the COVID-19 pandemic, adenoviral vaccines drew attention due to a potential life-threatening coagulation disorder, the vaccine-induced immune thrombotic thrombocytopenia (VITT). Patients deceased of VITT have been accepted as organ donors despite safety concerns regarding the transmission of VITT to recipients. The outcome of adult kidney graft recipients was reported favorable in most cases, however, (thrombotic) complications were observed more frequently. We present two pediatric...

CONCLUSION: Increasing utilisation of higher KDPI kidneys and enhancing perfusion could help maximise kidney transplantation.

CONCLUSIONS: Compound heterozygous mutations in the PLCE1 gene can lead to rapid progression of the disease to end-stage renal disease, with favorable outcomes following kidney transplantation. Family screening is crucial for early diagnosis, and medullary sponge kidney may be a novel phenotype associated with these gene mutations.

A boy in middle childhood with recurrent haematuria and refractory hypertension for 3.5 years was referred to our hospital with CT findings of a large right renal artery aneurysm. Following an unsuccessful endovascular intervention, a multidisciplinary team approach was set up, as well as a plan for right nephrectomy, complete excision of the aneurysm, reconstruction of the cut end of the branches of the renal artery using internal iliac artery (IIA) 'Y' graft followed by autotransplantation....

CONCLUSIONS: The emergent priorities and perspectives of SGMs with lived experience of transplant systems should inform patient-centered equitable health system advancements.

CONCLUSIONS: This case expands the phenotypic spectrum of CRB2-related disease, highlights management challenges, and underscores the need for genetic re-analysis in rare diseases. Further research is required to understand CRB2-related mechanisms.

CONCLUSIONS: Persistent hyperparathyroidism is relatively common in pediatric KT recipients, affecting one-third of patients by one-year post-transplant. Prolonged dialysis and pre-existing hyperphosphatemia before KT may be risk factors. These findings underscore the importance of optimizing chronic kidney disease-mineral bone disease management and routine PTH monitoring before and after transplant in children.

No abstract

CONCLUSIONS: Despite reported favorable outcomes in children who received allogeneic HSCT after kidney transplantation, there is a lack of evidence on how to overcome numerous challenges in these ultrarare cases.

Background: Abnormal sodium-dependent hexose reabsorption in the proximal tubule, accompanied by a functional decrease in sodium and water reabsorption under conditions of increased volemia, may be attributed to a dysfunction of primary transporters related to a genetic defect in the Na,K-ATPase gamma subunit. Methods: We examined two sisters, aged 6 and 8 years, who presented with hypercalciuria, glucosuria, fructosuria, galactosuria, and atypical proteinuria. Primary diabetes, galactosemia,...

CONCLUSIONS: Pediatric CKD burden reflects disparities by etiology, geography, and SDI. Interventions to improve early diagnosis, healthcare access, and targeted management strategies, particularly in low-SDI regions, are essential. Addressing obesity and improving treatment for glomerulonephritis are priorities. Standardized diagnostic criteria and broader global efforts are needed to mitigate the burden of pediatric CKD.

CONCLUSIONS: Initiating patients on HDT is cost-effective compared with ICHD. Alleviating stresses on staff capacity and implementing quality improvement initiatives in dialysis centres leads to health improvements, although these changes are not cost-effective owing to the associated increase in healthcare costs.

CONCLUSION: The addition of SGLT2i to goal-directed medical therapy in children with heart failure was associated with significantly improved LVEF and symptom profile and demonstrated a good safety profile.

CONCLUSION: Quantitative VCUG features show promise in refining predictive models to identify children with VUR who are at risk for PRDs suggestive of renal scarring, outperforming traditional metrics.

Hypophosphatasia (HPP) is the inborn-error-of-metabolism from deactivating mutation(s) of ALPL, the gene that encodes the cell surface "tissue-nonspecific" isoenzyme of alkaline phosphatase (TNSALP). HPP's "biochemical signature" comprises low serum alkaline phosphatase activity together with elevated plasma levels of the TNSALP natural substrates phosphoethanolamine (PEA), pyridoxal 5'-phosphate (PLP), and inorganic pyrophosphate (PPi). Excess extracellular PPi (ePPi) inhibits mineralization...

BACKGROUND: Failure to develop protective immunity in response to vaccination is common among kidney transplant recipients, rendering them susceptible to severe infection. Novel strategies are required. Here, we investigated the potential of mechanistic-target-of-rapamycin (mTOR) inhibitors to improve vaccine responses.

Although undocumented people are eligible for kidney transplant from a regulatory standpoint, undocumented individuals are often excluded from federal health insurance, leading to difficulty accessing kidney transplant. Menon et al. highlight lower mortality and graft failure rates for presumed undocumented immigrants compared with residents and citizens post-transplant. In this commentary, we emphasize the need for policy reforms to ensure equitable transplantation access for undocumented...

CONCLUSIONS: Dental caries were shown to be more prevalent among patients undergoing long-term immunosuppression, irrespective of the specific immunosuppressive agent or its dosage. Furthermore, the dosage of mycophenolate mofetil appeared to influence the occurrence of dental and jaw anomalies. These findings underscore the necessity for enhanced monitoring of transplant recipients in clinical practice.

The number of forcibly displaced people worldwide continues to rise each year due to armed conflicts, human rights violations and natural disasters. Many others migrate in search of better living conditions. People with chronic kidney disease, particularly those requiring kidney replacement therapy, are especially vulnerable during displacement. Preparedness is crucial to minimize risks for these patients. Education and training provided in the pre-disaster period may raise patients' resilience...

CONCLUSIONS: Our study provides valuable insights into the current etiology of pediatric HT and highlights the role of age, obesity, and uric acid level in the diagnosis of PH in children.

CONCLUSION: Tacrolimus-associated AIHA is an uncommon complication among kidney transplant recipients, necessitating heightened awareness and timely intervention. Transitioning to alternative immunosuppressive therapies, such as everolimus or sirolimus, may prove effective in managing this condition. Although previous reports have described transitions from tacrolimus to sirolimus, this case marks the first documented instance of a switch to everolimus.

Cystatin C (CysC) has emerged as a novel and potentially more reliable biomarker for the estimation of glomerular filtration in the general population in patients with various conditions. In AL amyloidosis, the current renal staging system and renal response criteria are based on proteinuria and creatinine-based eGFR. We explored the prognostic role of CysC and of estimation of eGFR based on CysC-based equations in a cohort of 195 patients with newly diagnosed AL amyloidosis with renal...

CONCLUSION: Primary thromboprophylaxis appears effective in preventing kidney graft loss from vascular thrombosis in pediatric recipients. This benefit may be offset by the risk of bleeding, although clarity on bleeding risk factors is lacking. We identified knowledge gaps, including uncertainty about optimal thromboprophylaxis regimens and treatment duration.

Background/Objectives: This study aimed to establish the regularities of changes in the content of matrix metalloproteinase 8 (MMP-8) and osteoprotegerin (OPG), the most well-known indicators of bone metabolism disorders, in the saliva of children with different severities of chronic kidney disease (CKD) who need orthodontic treatment. Methods: The study of MMP-8 and OPG content in saliva was carried out in 76 children in need of orthodontic treatment, who were divided into equal groups (G) of...

Acute kidney injury (AKI) disproportionately impacts children in low- and middle-income countries (LMICs), where up to 85% of AKI cases occur. As for pediatric chronic kidney disease (CKD), the true burden in LMICs remains unclear, as many cases go undiagnosed early, and other children succumb without adequate treatment. Unfortunately, these disparities result from limited access to kidney replacement therapy (KRT), kidney laboratory and imaging resources, healthcare provider shortages, and...

CONCLUSION: Annual numbers of pLT in Europe are decreasing over time. Given that the proportion of LD has remained stable, the shortage of deceased donor organs may not be the major reason for this trend, and other factors play a role. A focus on improving perioperative care is needed because the risk of graft loss and mortality is highest in the first 6 months after transplantation. New techniques like ex-situ machine perfusion may help mitigate risks with declining quality of deceased donor...

CONCLUSION: Our study highlights the feasibility and importance of screening pediatric kidney transplant recipients for FI with the Hunger Vital. The observed link of FI with demographic characteristics such as Hispanic ethnicity and having public insurance offers potential targets for intervention. Larger studies assessing FI and outcomes in pediatric transplant recipients are critical for focused interventions and policy development.

CONCLUSION: Serum creatinine pretransplant appears to be a poor predictor of renal replacement post-HT in FCF patients and can grossly overestimate creatinine clearance.

Acute kidney injury (AKI) is a decline in kidney function. Acute kidney injury frequently occurs as a complication among patients who are hospitalized or critically ill. Consequently, we aimed to examine the factors that could predict the cessation of renal replacement therapy (RRT) in individuals with severe AKI. We conducted a systematic review and meta-analysis with a comprehensive literature search in PubMed, Excerpta Medica database (Embase), and the Cochrane Library to identify relevant...

No abstract

Chronic kidney disease (CKD) is a public health problem worldwide. Guatemala, El Salvador, Honduras, and Nicaragua are among the top six countries of the continent with high mortality and years of life lost attributable to CKD. The magnitude of the gap in delivering pediatric kidney care in northern Central America has never been systematically documented, hindering the possibility of planning prevention and effective management. A survey was sent to the directors of pediatric kidney care...

No abstract

CONCLUSIONS: At our institution, where BSA-based dosing using a novel GFR method and appropriate upper limits of GFR for age is used, the rate of neutropenia was lower than previous reports in the literature. Furthermore, valganciclovir dose in milligrams per kilogram was not associated with an increased odds or degree of neutropenia. However, dose accounting for BSA and kidney function was. It is crucial to consider kidney function and the exposure to valganciclovir (vs. dose alone) when...

CONCLUSIONS: By combining AKI recovery mode with AKI grading, clinicians can screen out stage 2/3 persistent AKI with a worse prognosis. This method was more accurate in predicting prognosis than applying AKI grading alone.

CONCLUSIONS: Paediatric SOTR demonstrate greater SARS-CoV-2 vaccine responses than comparable adult SOTR patients. These data support efficacy and safety of SARS-CoV-2 vaccination in child SOTR and may alleviate vaccine hesitancy in this patient group.

CONCLUSION: In our cohort, children's DDS clinical trajectory was associated with exon localization. In the era of genomic newborn screening, depicting genetic risk is of utmost importance for personalized patient care.

CONCLUSIONS: We found that secondary erythrocytosis can be related to variants in EPO that lead to the production of hepatic-like EPO with an atypical glycosylation pattern and increased activity. (Funded by Région des Pays de la Loire and others; ClinicalTrials.gov number, NCT03957863.).

Cyclosporine levels vary considerably in several case reports and series. This variability may be partially due to inconsistent sampling times among the reports and probably related to the fat content of the milk at the time of sampling. With typical maternal cyclosporine blood levels, a completely breastfed infant would usually receive no more than about 2% of the mother's weight-adjusted dosage or pediatric transplantation maintenance dosage, and often less than 1%. In most breastfed infants,...

Air pollution is a global problem and a major contributor to adverse health outcomes in patients of all ages. Most research has focused on the adverse effects of air pollution on cardiopulmonary events such as myocardial infarction, stroke and lung disease, with less attention given to kidney outcomes. In recent years, there is emerging evidence that air pollution contributes to the onset and progression of chronic kidney disease and, specifically, glomerular disease. This has been confirmed in...

CONCLUSIONS: PAC was used more conservatively than guidelines suggest and was mainly driven by hypoalbuminaemia severity in both adults and children. Although not included in the guidelines practice points, DOACs were used as often as coumarins in adults.

No abstract

CONCLUSIONS: Our study indicated that children affected by MN had a specific B-cell profile and that high levels of memory B-cell subsets are specific to INS pediatric patients independently of proteinuria intensity.

CONCLUSIONS: Circulating anti-nephrin antibody may be a potential biomarker of MCD and may play a role in the MCD diagnosis.

CONCLUSIONS: Peptide vaccination induces CD8^(+) Tregs that ameliorate induction of experimental membranous nephropathy which may represent a further peripheral regulation of autoimmunity.

CONCLUSIONS: Approximately 25% of each age cohort reached the composite eGFR decline outcome within 5 years. As more glomerular disease clinical trials become available, we must consider opening these trials to people with childhood and adolescent onset disease since like adults they are at high risk of progressive kidney function decline.

Primary membranous nephropathy remains a rare but challenging condition to manage in pregnancy. We present a case of an unplanned pregnancy in a 35-year-old woman with PLA(2)R-antibody positive membranous nephropathy, who had demonstrated serological response to rituximab given three months prior to pregnancy (PLA(2)R 115 IUmL reducing to 2 IU/mL, normal <13.9 IU/mL)). Throughout pregnancy, serial measurements of proteinuria and PLA(2)R-antibodies were used to understand disease activity and...

CONCLUSION: To address the gap in measure availability and fluid overload content, the Prepare-NS team has launched a set of qualitative studies for concept elicitation from the population of interest to inform development of new measures. The resulting measures subsequently will undergo psychometric evaluation and validation in a survey study.

A 3-year-old boy initially presented with purpura-like rashes and nephrotic syndrome, suspected to be IgA vasculitis nephritis (IgAVN). The suggestion of kidney biopsy was rejected. Although the patient responded well to glucocorticoids, they later developed recurrent proteinuria, refractory diarrhea, and subsequent metabolic acidosis. Kidney biopsy showed membranous nephropathy with positive semaphorin 3B expression, indicative of other kidney diseases rather than IgAVN. Although his kidney...

Membranous nephropathy is a major etiology of nephrotic syndrome in adults and less frequently in children. Circulating antibodies to intrinsic podocyte antigens, such as M-type phospholipase A2 receptor, or to extrinsic proteins accumulate beneath the podocyte to cause damage via complement activation and/or other mechanisms. The availability of clinical testing for autoantibodies to M-type phospholipase A2 receptor has allowed noninvasive diagnosis of this form of membranous nephropathy and a...

Kimura's disease (KD) is a chronic inflammatory disorder characterized by nontender lymphadenopathy involving the head and neck region. Renal involvement in KD is rare, especially in children. We report a 12-year-old boy who had been previously treated for classical KD and had presented with anasarca and oliguria after 4 years. There were no swellings or lymphadenopathy. The kidney biopsy revealed membranous nephropathy. Remission was achieved with oral prednisolone and tacrolimus therapy. This...

CONCLUSION: This study comprehensively elucidates the distinct attributes of renal damage related to Wilson's disease, while also speculating that renal dysfunction in Wilson's disease could be linked to immune complex deposition. Depending on the underlying pathogenesis, kidney injury associated with Wilson's disease can be classified as primary or secondary. To slow down the progression of renal impairment, it is essential to undergo a renal biopsy pathological examination as early as possible...

CONCLUSION: MGMID can affect both adult and pediatric patients. Further studies are needed to fully characterize its risk factors, optimal therapy, and outcomes.

CONCLUSIONS: Among adult patients in CureGN, class 2-3 obesity is associated with cardiovascular but not kidney outcomes when adjusted for potential confounding factors.

Nephrotic syndrome (NS) is one of the common presentations of kidney diseases both in children and adults. NS patients, particularly those with membranous nephropathy, have increased risk of thromboembolic events. Heparin and vitamin K antagonists (VKAs) continue to be commonly used as prophylactic and therapeutic agents, given the experience of use of these agents in NS and nonrenal indications of anticoagulation. The use of direct oral anticoagulants (DOACs) in NS is reported in some case...

No abstract

CONCLUSION: Low concentrations of anti-CysR-IgG4, anti-CTLD1-IgG4, and anti-CTLD6-7-8-IgG4 at initial diagnosis predict rapid remission after treatment. The use of specific IgG4 against PLA2R and its different epitopes combined with eGFR and urinary protein provides a better assessment of the prognostic outcome of IMN.

Primary glomerular diseases are rare entities. This has hampered efforts to better understand the underlying pathobiology and to develop novel safe and effective therapies. NEPTUNE is a rare disease network that is focused on patients of all ages with minimal change disease, focal segmental glomerulosclerosis, and membranous nephropathy. It is a longitudinal cohort study that collects detailed demographic, clinical, histopathologic, genomic, transcriptomic, and metabolomic data. The goal is to...

CONCLUSION: Nephrotic syndrome is a chronic disease that demands extensive treatment plans and strict monitoring. Medication errors are common among parents or caregivers of pediatric patients. This case is a take-home message emphasizing the significance of patient-centered communication in preventing medication errors. A clinical pharmacist can aid in conveying simple and unambiguous information to parents or caregivers.

CONCLUSION: The distribution of glomerular diseases showed age, sex and race differences. This research will be beneficial for providing epidemiological evidence for clinical diagnosis, disease prevention and public health decision-making.

Urinary biomarkers are a promising diagnostic modality whose role was explored in nephrotic syndrome (NS). We estimated urinary apolipoprotein A1 (Apo A1) and neutrophil gelatinase-associated lipocalin (NGAL) in children with first-episode NS (FENS) and controls with a longitudinal follow-up to see the serial changes during remission. The study groups comprised 35 children with FENS and an equal number of age- and sex-matched controls. Patients were followed up at regular intervals, and 32...

CONCLUSIONS: Our research demonstrated the cell type-specific molecular features in the circulation and kidney of the NEG pMN patient.

CONCLUSION: Approximately 60% of pediatric membranous cases are positive for a novel antigen on kidney biopsy and the clinical prognosis is generally favorable. More studies are needed to understand the clinical implications of each specific novel antigen.

Membranous nephropathy is an autoimmune disease affecting the glomeruli and is one of the most common causes of nephrotic syndrome. In the absence of any therapy, 35% of patients develop end-stage renal disease. The discovery of autoantibodies such as phospholipase A2 receptor 1, antithrombospondin and neural epidermal growth factor-like 1 protein has greatly helped us to understand the pathogenesis and enable the diagnosis of this disease and to guide its treatment. Depending on the...

Glomerular diseases are common causes of chronic kidney disease in childhood, adolescence, and adulthood. The epidemiology of glomerular diseases differs between different age groups, with minimal change disease being the leading cause of nephrotic syndrome in childhood, while membranous nephropathy and focal segmental glomerulosclerosis are more common in adulthood. IgA vasculitis is also more common in childhood. Moreover, there is a difference in disease severity with more children presenting...

Glomerulonephritis (GN) is a predominant cause of kidney failure in Africa. The prevalence of primary GNs varies widely across Africa depending on the relative proportion of secondary GNs and genetic predispositions. We assessed the overall and sub-regional prevalence of primary GN and its histologic subtypes in Africa. We searched PubMed, EMBASE and African Journals Online for studies of biopsy-proven primary GNs across all age groups in Africa published between 2010 and 2022. Data for primary...

CONCLUSIONS: Hematuria is prevalent among participants with the three podocytopathies and is significantly and independently associated with worse kidney-related outcomes, including both progressive loss of kidney function and remission of proteinuria.

CONCLUSIONS: Among patients with primary GN, COVID-19 infection was severe for 1 in 8 cases and was associated with subsequent worsening of GN disease activity, as defined by proteinuria. By contrast, vaccination against COVID-19 was not associated with change in disease activity or kidney function decline. These results support COVID-19 vaccination for patients with GN.

BACKGROUND: Membranous nephropathy is a glomerular disease characterized by the presence of immune-complexes deposited in the subepithelial space of the glomerular basement membrane. It is the main cause of nephrotic syndrome in adults, while in children it is very infrequent. Anti-CD20 monoclonal antibodies, mainly rituximab, represent a specific treatment for this disease.

CONCLUSION: The KB is an essential step in the diagnosis of nephropathies. Focal segmental glomerulosclerosis is frequent in our study. The establishment of a Kidney registry would allow better knowledge of renal pathologies in sub-Saharan Africa.

CONCLUSIONS: On cBSA-induced injury, podocytes upregulate DAF expression, which restrains complement activation. However, after prolonged injury, complement activation overcomes DAF regulatory effects leading to the formation of soluble anaphylatoxin C3a that, by signaling through C3aR, promotes glomerular injury and cBSA-induced MN disease progression. Considering the growing number of complement targeting therapies, our findings may have major translational effect on the treatment of patients...

CONCLUSIONS: The development of GD after vaccination against SARS-CoV-2 may be a very rare adverse event. Temporal association is present for IgAN and MCD, but causality is not firmly established. Kidney outcomes for IgAN and MCD are favorable. No changes in vaccination risk-benefit assessment are recommended based on these findings.

Glomerular diseases account for a significant proportion of chronic kidney disease in low-income and middle-income countries (LMICs). The epidemiology of glomerulonephritis is characterized inadequately in LMICs, largely owing to unavailable nephropathology services or uncertainty of the safety of the kidney biopsy procedure. In contrast to high-income countries where IgA nephropathy is the dominant primary glomerular disease, focal segmental glomerulosclerosis is common in large populations...

The course of juvenile-onset systemic lupus erythematosus may vary, from rapid multiorgan involvement to insidious development mimicking different medical conditions. Depressive disorder in adolescents poses considerable diagnostic difficulties due to the natural tendency to lowered mood in this age group. However, it may also be the manifestation of a systemic disease. We present a case of a 16-year-old female patient without any somatic symptoms in whom severe depression resistant to treatment...

CONCLUSION: In adults, urinary CD80 can serve as a marker of nephrotic syndrome but is not specific for MCD, whereas serum suPAR does not appear to be useful as a diagnostic or treatment response marker.

The article summarizes the current evidence on the impact of microbiota alterations on immune-mediated primary glomerulonephritis in children. In particular, the focus is on the link between dysbiosis and the onset or recurrence of idiopathic nephrotic syndrome, immunoglobulin A nephropathy, and membranous nephropathy. The aim is to describe possible pathomechanisms, differences in gut microbiota composition between pediatric patients and healthy controls, and possible usage of microbiota...

CONCLUSION: We provide a panel of in vitro bioassays to measure podocyte injury and predict the presence of CPFs in plasma of patients with nephrotic syndrome (NS), providing a new framework for monitoring CPF activity that may contribute to future NS diagnostics or used for disease monitoring purposes. Moreover, our findings suggest that the inhibition of ROS formation or facilitating rapid ROS scavenging may exert beneficial effects in patients with CPFs.

CONCLUSION: To our knowledge, this is the first report of MN in a female WAS/XLT patient. WAS protein expression defects affect all immune system cells; however, the mechanisms underlying the occurrence of autoimmunity are not completely understood. In WAS/XLT patients, MN may develop as a result of increased autoantibody production, similar to other types of immunodeficiency.

Primary membranous nephropathy (PMN) is one of the common causes of adult-onset nephrotic syndrome and is characterized by autoantibodies against podocyte antigens causing in situ immune complex deposition. Much of our understanding of the disease mechanisms underpinning this kidney-limited autoimmune disease originally came from studies of Heymann nephritis, a rat model of PMN, where autoantibodies against megalin produced a similar disease phenotype though megalin is not implicated in human...

CONCLUSIONS: The shared genetic risk factors among patients with different presentations of INS strongly suggests a shared autoimmune pathogenesis when monogenic causes are excluded. Use of the SSNS-GRS, in addition to testing for monogenic causes, may help to classify patients presenting with INS. A higher resolution version of the Graphical abstract is available as Supplementary information.

CONCLUSIONS: Corticosteroids with or without concomitant additional immunosuppression significantly increased risk of infection leading to acute care utilization in adults and children with glomerular disease.

Nephrotic syndrome is a condition characterized by damage to podocytes that results in significant proteinuria, edema, hyperlipidemia, and hypercoagulability. Infections and malignancies are frequently associated with nephrotic syndrome. The COVID-19 virus has been associated with several atypical presentations of upper respiratory infections and acute kidney injury. Considering that COVID-19 causes systemic inflammatory changes, it seems plausible that it may also lead to nephrotic syndrome....

CONCLUSIONS: The frequency of proteinuria in asymptomatic siblings of children with steroid-resistant syndrome is low in our population despite a high prevalence of consanguineous marriages. Hence, familial involvement of nephrotic syndrome is low and further genetic testing for monogenic causes is required in steroid-resistant nephrotic syndrome cases.

The association between membranous nephropathy and cancer has been well documented. Crescentic glomerulonephritis (GN) has also been associated with various types of cancers. To our knowledge, there has only been one previously documented case of seronegative pauci-immune crescentic glomerulonephritis associated with colon cancer. We present a case of a 51-year-old male with newly diagnosed high-grade poorly-differentiated colon carcinoma who was found to have seronegative pauci-immune...

Membranous nephropathy (MN) falls within the scope of a glomerular disease. MN exhibits subepithelial immune- complex deposition and capillary wall thickening which could occur in all age groups. In comparison with adult patients with MN, MN in pediatric population has a lower incidence and more secondary factors (e.g., systemic lupus erythematosus, infection, malignancy, or drug toxicity). Two target antigens for the immune complexes, PLA2R (identified in 2009) and THSD7A (in 2014), found in...

Pediatric renal biopsy is an uncommon event, and the spectrum of the disease is evaluated and managed mostly on the clinical grounds. Compared to adults, the indications for renal biopsy in pediatric population are very few. We reviewed the pediatric renal biopsies received at our tertiary center in Mumbai, India, over a period of six years to study the incidence of various medical renal diseases, their spectrum on histology and its correlation with electron microscopy (EM). A total of 65...

CONCLUSIONS: A penalized Cox regression performed reasonably for predicting recurrent MN and was superior to Group LASSO and random forest models. These models highlighted the importance of donor-recipient HLA characteristics to recurrent MN, although validation in larger datasets is required.

Membranous nephropathy is an autoimmune kidney disease caused by autoantibodies targeting antigens present on glomerular podocytes, instigating a cascade leading to glomerular injury. The most prevalent circulating autoantibodies in membranous nephropathy are against phospholipase A2 receptor (PLA2R), a cell surface receptor. The dominant epitope in PLA2R is located within the cysteine-rich domain, yet high-resolution structure-based mapping is lacking. In this study, we define the key...

CONCLUSION: IMN is rare in children. The main clinical manifestation is NS. The diagnosis depends on renal biopsy. There is little evidence-based data on the treatment of IMN in children. Therefore, large-sample randomized controlled trials need to be performed. Individualized treatment should be used to improve the prognosis of the disease.

Protein-losing enteropathy (PLE) is a rare condition characterized by clinical findings such as edema, ascites, pleural effusion, and diarrhea due to excessive protein loss from the gastrointestinal system. Although systemic lupus erythematosus (SLE) is rare in childhood, PLE can be the first presenting feature; this condition is referred to as lupus-associated protein-losing enteropathy (LUPLE). Protein-losing enteropathy (PLE) is an uncommon condition resulting from excessive protein loss in...

Lupus nephritis (LN) is a frequent manifestation of systemic lupus erythematosus, and fewer than half of patients achieve complete renal response with standard immunosuppressants. Identifying non-invasive, blood-based immune alterations associated with renal injury could aid therapeutic decisions. Here, we used mass cytometry immunophenotyping of peripheral blood mononuclear cells in 145 patients with biopsy-proven LN and 40 healthy controls to evaluate the heterogeneity of immune activation and...

RATIONALE: Systemic lupus erythematosus (SLE) is a rare but serious autoimmune disorder that can present with diverse clinical manifestations, often making diagnosis challenging, particularly in pediatric patients. While thrombocytopenia is a known hematological manifestation of SLE, its occurrence as the sole initial symptom is uncommon.

Toll-like receptor (TLR)7 contributes to type I interferon (IFN) expression in systemic lupus erythematosus (SLE). This study investigated genetic variability of TLR7 in 319 juvenile-onset (j)SLE patients from the UK. New generation sequencing was used to associate "common" TLR7 variants with demographic and clinical features. Three jSLE-associated variants with in silico predicted impact on gene function presented minor allele frequencies ≥5 %: rs2302267/n.-20T > G (TLR7 promoter);...

CONCLUSION: This national analysis highlights an increased risk of IRCs in pediatric patients with AD, suggesting a need for enhanced clinical vigilance. These findings underscore the importance of further research to understand the underlying mechanisms and potential for early intervention in managing IRCs among children with AD.

Early detection of neuropsychiatric systemic lupus erythematosus (NPSLE) in children remains challenging in clinical settings. This study aims to describe the autoantibodies, organ disorders, the SLEDAI-2K score, and complement levels at the time of diagnosis in systemic lupus erythematosus (SLE) as well as investigate the predictors of NPSLE. We reviewed medical records of hospitalized children with SLE (< 18 years old) and extracted information on clinical features, serum autoantibodies, and...

CONCLUSION: Use of rituximab to manage nephrotic syndrome has steadily increased, and tacrolimus, mycophenolate, and rituximab are currently the most commonly used steroid-sparing agents for childhood nephrotic syndrome.

No abstract

Efferocytosis, the process through which phagocytes clear apoptotic cells (ACs), has rapidly emerged as an expanding field of research. This multi-step process involves recognizing, binding, internalizing, and degrading ACs. Efferocytosis clears ACs, preventing their secondary necrosis, generating anti-inflammatory mediators, and promoting the resolution of inflammation. Appropriate efferocytosis is essential for preserving immune tolerance and preventing exposure to self-antigens, while...

CONCLUSIONS: Our findings highlight complex immune and autoimmune responses that contribute to ongoing inflammation and tissue damage post-SCI, underscoring new avenues for therapeutic interventions targeting these molecular processes.

CONCLUSION: The 3D chromatin architecture in B cells is similar across pediatric, adult, and EBV-transformed cell lines. This conservation of 3D structure includes regions encompassing autoimmune risk haplotypes. Thus, even for pediatric autoimmune diseases, publicly available adult B cell and cell line datasets may be sufficient for assessing effects exerted in the 3D genomic space.

CONCLUSION: G6PD deficiency may increase the risk of autoimmune diseases, congenital heart defects, and type 1 diabetes in children. Further studies are required to elucidate its role in pediatric disease susceptibility and inform clinical management.

Pregnancy induces immunologic and physiologic changes that can alter disease activity for women with autoimmune disorders (AD), and if exacerbated, may necessitate treatment. Biologics are increasingly prescribed due to their targeted effects, but transplacental transfer to the fetus may increase potential risks to the infant. This review examines the risk of infection and respiratory distress in the first year of life among infants born to women with AD using biologics during pregnancy versus...

CONCLUSIONS: Robust pharmacokinetic targets are not yet clearly defined regarding toxicity or efficacy and are warranted in order to make a valuable contribution to prednisolone therapeutic drug monitoring in the context of SLE.

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Autoimmune hemolytic anemia (AIHA) is rare inchildren. Little is known about the efficiency of red blood cells (RBCs) transfusions and the risk of reactions among children with severe AIHA. This article describes the clinical features and outcomes in AIHA children after RBCs transfusions. A retrospective study was conducted among hospitalized AIHA children from July 2019 to October 2024 in a tertiarycare medical center in China. Twenty-six patients received 47 RBCs transfusions, with a median...

ObjectiveSystemic lupus erythematosus (SLE) is a complex autoimmune condition with diverse manifestations. Childhood-onset SLE (cSLE) presents more severely than adult-onset disease with a higher incidence of severe neurologic or renal manifestations and lower estimated survival rates. There is limited literature on the range of severe gastrointestinal manifestations at presentation in cSLE, and this lack of information results in underappreciation of these potentially life-threatening...

ObjectivesTo assess the potential of a multi-institutional pediatric learning health system for comparative effectiveness research in pediatric-onset systemic lupus erythematosus (SLE), we characterized renin angiotensin aldosterone system (RAAS) inhibitor utilization and the feasibility of ascertaining key treatment indications and outcomes, including hypertension and proteinuria.MethodsWe identified children with SLE and lupus nephritis (LN) at 6 PEDSnet institutions using previously developed...

Systemic lupus erythematosus (SLE) and ulcerative colitis (UC) are both chronic autoimmune diseases with unclear shared mechanisms, largely due to limited mechanistic studies and clinical research cohorts. Transcriptome datasets from the Gene Expression Omnibus (GEO) database were analyzed for SLE and UC, identifying differentially expressed genes (DEGs). Weighted gene co-expression network analysis (WGCNA) identified significant module genes, including PLEKHA1. The diagnostic potential of...

Type I interferonopathies are rare genetic diseases characterised by excessive production or signalling of type I interferons (IFN-I), which are key cytokines in the antiviral response. These conditions lead to inappropriate activation of IFN-I pathway, even in the absence of viral stimulation. Over thirty monogenic conditions have been identified, with Aicardi-Goutières syndrome being the most common. The genes involved often relate to the metabolism of intracellular nucleic acids, their...

Cardiomyopathy is a rare clinical manifestation in pediatric systemic lupus erythematosus (SLE), with only a single case reported in the literature. Its identification in pediatric SLE is challenging due to its typically subclinical presentation and low incidence, which frequently result in delayed diagnosis and management. The aim of this study was to present a unique case of dilated cardiomyopathy, a rare cardiac complication of SLE, which can be life-threatening if not promptly recognized and...

CONCLUSIONS: Considering patient and clinician perspectives, we reached consensus to include eight disease activity domains for future development into the novel TRM-SLE clinical trial outcome measure, aiming to improve trial interpretability and success.

CONCLUSIONS: The IFI44 and EPSTI1 proved to be closely involved in the progression from SCLE to SLE, and can represent new candidate diagnostic molecular markers of occurrence and progression of SCLE.

BACKGROUND: Autoimmune diseases are a heterogeneous category of disorders caused by an interaction between genetic and environmental factors which lead to a dysregulated immune response. Childhood adversity is an environmental risk factor with enduring effects on the immune system and may therefore be implicated in the aetiology of autoimmune disorders. This systematic review and meta-analysis sought to examine the association between childhood adversity and autoimmune disease in adulthood.

CONCLUSION: This study shows that AIHA at Dr. Hasan Sadikin General Hospital is more prevalent in females and younger individuals, with Systemic Lupus Erythematosus (SLE) being the most common secondary cause. Warm AIHA was the most frequent, with a rare occurrence of mixed AIHA.

CONCLUSIONS: A pediatric patient with aggressive MDA5^(+)DM-RPILD achieved progressive long-term improvement and immunosuppressant-free remission over 11 months after compassionate use of a CD19 CAR-T cell therapy (ARI-0001).

ANCA-associated vasculitis (AAV) is a group of rare small vessels vasculitis that preferentially affect the kidneys, lungs and upper airways. Although the detailed pathophysiology remains unclear, genetic background has been shown to play a role in sporadic forms of AAV. The discovery of these susceptibility genes (and associated biological pathways) involved in AAV have shaped the current understanding of AAV pathophysiology. In addition to common genetic polymorphisms, specific rare inborn...

CONCLUSIONS: RTX in refractory cSLE reduced disease activity and steroid dependence with an acceptable safety profile. Further research and international collaboration are needed to validate these findings.

CONCLUSIONS: This Mendelian randomization analysis reveals a significant association between telomere length and autoimmune diseases such as RA, GD, and psoriasis, while a positive relationship was validated with SLE. These findings underscore the need for further investigation to better understand the underlying mechanisms and their potential clinical applications.

B cells are essential to the pathophysiology of systemic lupus erythematosus (SLE), a chronic autoimmune illness. IgD-CD27-double negative B cells (DNB cells) are one of the aberrant B cell subsets linked to SLE that have attracted much scientific interest. There is growing evidence that DNB cells play a significant role in the development of the disease and are strongly linked to the activity of lupus. These cells play a pivotal role in the pathogenesis of SLE by producing a diverse array of...

Phalangeal microgeodic syndrome (PMS) is a rare condition thought to result from a transient disturbance of peripheral circulation under cold temperatures. PMS is most prevalent in children, mainly affecting the fingers and rarely the toes. Although some cases of adult-onset PMS have been reported, the clinical features remain unclear. Herein, I report the case of a 24-year-old man who developed PMS with toe involvement. The self-limiting course was followed by magnetic resonance imaging (MRI)....

OBJECTIVES: The diversity and heterogeneity of circulating immune cells have been extensively investigated in systemic lupus erythematosus (SLE). However, little is known about the influence of belimumab, an anti-BAFF (B cell-activating factor) monoclonal antibody, on the heterogeneity of peripheral immune cell landscape in SLE patients. In this study, we aimed to investigate the altering effect of belimumab on autoimmunity in SLE.

CONCLUSION: Both IFN-α2 quantification and NanoString reliably distinguish type I interferonopathies from other diseases. Type I and II interferons induce different transcriptomic signatures in vitro and in vivo, and our results highlight the value of monitoring both IFN-I and IFN-II in interferon-related diseases.

Autoantibodies neutralizing Type I interferons increase the risk of severe viral diseases and are linked to autoimmune conditions. The automated VIDAS assay is suitable for anti-IFN-α2 IgGs quantification, offering a swift, reliable, user-friendly, single test for clinical management.

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CONCLUSION: Our study showed that male SLE patients are at high risk of severe organ damage at an early age and are susceptible to various other complications during follow-up. This may differ from female SLE patients, and larger studies in the future can further enlighten tailored treatment approaches in male patients. Ethical consent was taken wide letter no. IEC Reg. no. 54/2024 AH RR.

CONCLUSION: Compared to previously described multiethnic cohorts of cSLE, this predominantly AA patient population in the Southern United States has significantly higher disease activity and greater damage accrual. Social risk factors for this population include a higher SVI, longer distance from an academic pediatric rheumatology center, and having Medicaid insurance. The effect of these factors on disparity of disease outcomes needs to be further explored with larger cohorts.

CONCLUSION: While children and adults demonstrate comparable long-term kidney survival, elderly patients face significantly worse outcomes due to advanced chronicity and systemic damage. These findings highlight the need for tailored interventions in late-onset LN. Older-onset LN, in fact, was an independent predictor of CKD or death together with AKD, arterial hypertension, SLICC >0, and no remission at 1 year.

Follicular dendritic cells (FDCs) retain Ag-containing immune complexes (ICs), facilitate the selection of high-affinity antibodies, and protect B cells in germinal centers (GCs) from apoptosis. In systemic lupus erythematosus patients, apoptotic debris is found on the surface of FDCs. However, the mechanisms by which FDCs engage the protected autoreactive B cells remain unclear. WD repeat and FYVE domain-containing protein 1 (WDFY1) is an adaptor protein involved in endocytic/vacuolar membrane...

INTRODUCTION: Transverse myelitis is a rare neurologic complication associated with systemic lupus erythematosus (SLE), also known as lupus myelitis. Little is known about the optimal treatment regimen for the disease or the functional outcomes after diagnosis, especially for pediatric patients.

Systemic lupus erythematosus (SLE) is a chronic autoimmune disease that causes immune system overactivity and organ damage. Among T-cell subsets involved in SLE, CD4 and CD8 double-negative αβT (DNT) cells have attracted attention in recent years, although their role in SLE remains poorly understood. Examining the minute intricacies, particularly signaling pathway modifications is crucial, as it may unveil potential therapeutic targets and lead to the development of more effective treatments....

Chimeric antigen receptor (CAR)-based therapies developed for the treatment of haematological malignancies have recently been repurposed to treat refractory systemic autoimmune diseases. In this Review we critically discuss the current data available on the use of CAR-based therapy in systemic autoimmune diseases, the current challenges, and the potential next steps toward their implementation into clinical practice. Beyond the targeting of B cells via CD19, we discuss the advantages and...

T follicular helper (Tfh) and T follicular regulatory cells (Tfr) are required for antibody production and are dysregulated in SLE. Genetic variants within or near interferon regulatory factor 5 (IRF5) are associated with SLE risk. We previously reported higher plasma cells and autoantibodies in healthy IRF5-SLE homozygous risk carriers. Here, we report the dysregulation of circulating Tfh and Tfr in both SLE patients and presymptomatic IRF5-SLE homozygous risk carriers.

Type I interferon (IFN) plays an important role in the pathogenesis of systemic lupus erythematosus (SLE) and cutaneous manifestations. Anifrolumab, a fully humanized monoclonal antibody against type 1 IFN receptor, has shown a significant reduction of the disease activity of SLE and cutaneous manifestations in adults. We reported two pediatric SLE patients with refractory cutaneous lesions that dramatically improved after anifrolumab therapy. This is the first study to show clinical effects of...

CONCLUSIONS: Significant histologic LN findings are observed in 30% of SLE patients without overt kidney disease; frequently associated with high-titer dsDNA, anti-Smith antibodies, and/or hypocomplementemia. Thus, baseline kidney biopsy in newly diagnosed SLE patients, irrespective of clinical and laboratory manifestations, may aid in guiding therapy.

CONCLUSION: The impact on physical activity levels of children and adolescents with IMRD throughout the COVID-19 pandemic was positive, with the majority of patients being classified as active, according to the IPAQ questionnaire. Furthermore, the patients engaged in moderate and light physical activities, similar to healthy controls. Regarding HRQoL, the present data showed that patients had lower scores in most of the dimensions assessed.

CONCLUSION: Over the years, there have been significant improvements in the diagnosis and management of children with SLE resulting in an earlier diagnosis, lower disease activity at onset, and improved outcomes.

CONCLUSION: Our findings suggest that RSAD2 is a potential diagnostic biomarker and therapeutic target for SLE, elucidating the intricate relationship between immune dysregulation and aberrant iron metabolism in activated DCs, which exacerbates SLE.

Studies in women with inflammatory bowel disease, systemic lupus erythematosus or transplantation taking doses of azathioprine up to 200 mg daily for immunosuppression have found either low or unmeasurable levels of the active metabolites in milk and infant serum. Some evidence indicates a lack of adverse effects on the health and development of infants exposed to azathioprine during breastfeeding up to 4.6 years of age, but long-term follow-up for effects such as carcinogenesis have not been...

The spectrum of brain injury and the causative pathways in children with chronic kidney disease is largely unknown. We searched PubMed, Google Scholar, Embase, and Web of Science by combining synonyms of pediatric mild to moderate chronic kidney disease and brain lesions for the past 10 years. This resulted in 63 articles, of which 11 were finally included. The results from this study show that pediatric mild to moderate chronic kidney disease is associated with a variety of neurocognitive...

CONCLUSIONS: Electrocardiometry can assess the hemodynamic profile of children receiving CKRT. Compensatory cardiovascular changes remain intact in children receiving CKRT, as evidenced by correlations between SVI, SVRI, CI, and MAP. Future studies should investigate how this technology could enable more individualized CKRT prescriptions and improve patient outcomes.

Steroid-resistant nephrotic syndrome is a rare condition defined by early severe proteinuria associated with hypoalbuminemia, hyperlipidemia and possible edema, is usually caused by pathogenic variants in genes affecting the establishment and maintenance of the glomerular filtration barrier; among these NPHS1 (19q13.12) and NPHS2 (1q25.2) are by far the two main autosomal recessive genes implicated. We report on a 23-year-old girl referred to our hospital for Steroid-resistant nephrotic syndrome...

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Juvenile idiopathic arthritis (JIA) is characterised by arthritis onset before the age of 16, persisting for at least 6weeks without a known cause. Symptoms include joint swelling, inflammatory pain (worse at night and in the morning), or also back, heel, or buttock pain. Timely diagnosis and referral to a paediatric rheumatologist are crucial to reduce errors, invasive procedures, and long-term complications. Around 5000 children under 16 are affected by JIA in France. The current international...

Barth syndrome (BTHS) is a rare disease caused by mutations in the tafazzin gene that affects the heart and muscles; however, to date, no clinically effective drugs are available. In BTHS, mitochondrial function is reduced owing to changes in cardiolipin metabolism. We developed mitochonic acid 5 (MA-5), a small-molecule compound that increases ATP levels, improves mitochondrial dynamics, and is effective in treating mitochondrial and muscle diseases. Therefore, this study examined the...

This is a protocol for a Cochrane Review (intervention). The objectives are as follows: To assess the benefits and harms of adjuvant interventions (anti-inflammatory or antioxidative) in preventing kidney scarring (detected by DMSA scan) in children with febrile urinary tract infections.

CONCLUSION: Thrombotic microangiopathy is an ultra-rare, but potentially life-threatening condition that can occur after onasemnogene abeparvovec therapy. Anticipation of these serious adverse events, its prompt recognition and treatment is crucial for a better outcome.

CONCLUSIONS: Risk prediction models incorporating novel biomarkers showed comparable discrimination to established risk factors for kidney failure and all-cause mortality.

CONCLUSIONS: The progressive increment of blood pressure in children across age is largely influenced by height. In boys blood pressure values still increase after 13 years old, while in girls the BP increment after this age was lower. Differences in systolic blood pressure and diastolic blood pressure among the two used methods are minimal except in the oldest age group.

INTRODUCTION: Ovarian cancer (OC) exhibits high mortality and chemoresistance rates, underscoring the urgent need for precise prognostic biomarkers and novel therapeutic targets. SUMOylation, crucial in cellular stress responses, is frequently dysregulated in various cancers. This study aims to characterize SUMOylation and its regulators in OC and identify potential biomarkers and therapeutic targets.

CONCLUSIONS: there was a significant difference between weight loss in the 2 groups that received albumin and furosemide simultaneously or sequentially and according to this study, the sequential method of furosemide administration after albumin infusion is the preferred method to reduce edema in pediatric patients with nephrotic syndrome.

The impact of the intersectional lived experience of having a chronic health condition and identifying as lesbian, gay, bisexual, transgender, queer, intersex, asexual or another sexual or gender minority (LGBTQIA+) on health and wellbeing is largely unknown. In this article, we describe the development and structure of PRIDE CF, an innovative, large-scale epidemiologic study using a mixed-methods team science approach to understand the experiences and health outcomes of people with cystic...

CONCLUSION: Cognitive behavioral therapy was effective and well-tolerated for promoting weight loss with most of the lost weight maintained at the three-month follow-up. This intervention may offer a valuable non-pharmacological treatment option for weight management in patients with chronic kidney disease.

CONCLUSIONS: The loss of kidney function is associated with an impaired control of phosphor-calcium balance, and anemia, growth and pubertal delay in children. This study highlights the need for individualized treatment plans and a multidisciplinary approach in pediatric patients with ESRD.

A 44-year-old woman presented with bilateral kidney cysts, scattered hepatic cysts, and a family history of polycystic kidney disease initially suspected of being autosomal dominant polycystic kidney disease (ADPKD). However, her clinical course showed atypical features: a modest total kidney volume increase (436 to 643 mL over 4 years) and rapid progression to end-stage kidney disease by 48 years old. Genetic testing revealed autosomal dominant tubulointerstitial kidney disease caused by a UMOD...

Galloway-Mowat syndrome (GAMOS) is a rare autosomal recessive genetic disorder that is underrecognized. The phenotype is heterogeneous, but it is now widely accepted that early-onset nephrotic syndrome (SRNS) and microcephaly with brain malformation are characteristic features of Galloway-Mowat syndrome. Although the five subunits that encode the KEOPS complex, OSGEP/TP53RK/TPRKB/LAGE3/GON7, are known to cause Galloway-Mowat syndrome, the mutation of the WDR73, WDR4, NUP107, NUP133, and PRDM15...

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Skin and Soft Tissue Infections (SSTIs) are common in pediatric patients, accounting for nearly 25% of clinical visits. These infections can range from mild to life-threatening and include a severe subset known as Acute Bacterial Skin and Skin Structure Infections (ABSSSI). Prompt diagnosis and appropriate antibiotic use are crucial for optimizing patient outcomes while minimizing adverse effects and antimicrobial resistance. However, empirical treatment often becomes necessary due to the lack...

CONCLUSIONS: Mitochondrial mutations may contribute to the development of Fanconi syndrome. Fanconi syndrome may present as the initial manifestation of KSS. KSS should be considered in pediatric patients presenting with Fanconi syndrome and extrarenal manifestations, such as ptosis.

Henoch-Schönlein purpura nephritis (HSPN) is the most common secondary glomerular disease in children, and is considered a major cause of chronic renal failure. Astragaloside IV (AS-IV) has been shown to protect against HSPN. However, the specific effects and mechanisms of AS-IV in HSPN remain unclear. Using network pharmacology, potential targets of AS-IV were screened via the PharmMapper and SwissTargetPrediction databases, while HSPN related genes were retrieved from OMIM, GeneCards, and...

The collagen IV scaffold serves as a fundamental structural unit of the basement membrane (BM). Understanding its structure, assembly, and function is essential for tissue engineering, design of organoid models, and developing therapies for diseases such as Alport syndrome, Gould syndrome, psoriasis, eye abnormalities, hearing loss, and others where collagen IV is required for structural integrity and functionality of the BM. The collagen IV molecule is a 400 nm long heterotrimer, comprising...

CONCLUSION: Overall, 12.9% of patients had monogenic obesity or a potentially obesogenic variant. These findings suggest that genetic testing should not be limited to patients with extreme obesity. Current obesity panels miss crucial syndromic genes, demonstrating a need for more comprehensive panels and the superiority of whole-exome sequencing in obesity.

CONCLUSION: We reported personalized early, noninvasive diagnosis and regenerative treatments for calciphylaxis patients with MPC. Although the current hAMSC treatment regimen is effective for skin lesions, its impact on MPC requires further investigation.

CONCLUSIONS: This study confirmed the effectiveness and safety of ravulizumab in Japanese patients with aHUS after switching from eculizumab in a real-world setting.

Pediatric hypertension is increasingly recognized as a complex condition shaped by both systemic and cellular factors, with oxidative stress emerging as a key driver of vascular dysfunction. In both their primary and secondary forms, reactive oxygen species (ROS) disrupt redox homeostasis, impair endothelial signaling, and promote inflammation and tissue remodeling. Metabolic dysregulation, renal pathology, and early-life stressors contribute to the accumulation of ROS through pathways involving...

Objective: This study aimed to explore the emotional, social, and ethical dimensions of early or presymptomatic diagnosis in individuals with Autosomal Dominant Polycystic Kidney Disease (ADPKD). Methods: A total of 118 participants diagnosed with ADPKD were recruited from a tertiary nephrology center in Türkiye. Data were collected via a 22-item structured and open-ended questionnaire. Chi-square and non-parametric statistical tests were used to assess associations between awareness, attitudes,...

CONCLUSIONS: In the CureGN cohort, elevated risk of incident CV and TE events is associated with severity of kidney disease rather than GD subtype.

CONCLUSIONS: crG was highly dynamic within individuals over time and varied with glomerular disease activity and treatments. The impact of Δ crG on Δ Scr -and subsequently on estimation of kidney function-is potentially large. Accounting for these changes or development of alternative kidney function measures are needed among glomerular disease patients.

CONCLUSIONS: IUD and OC use distinctly affect stress response, possibly because of their diverging metabolic pathways and hormone levels. IUD users showed higher emotional reactivity to stress in both lab and daily life, while OCs influenced physiological correlates. These findings highlight that exogenous hormone administration, previously thought to have limited systemic effects, affects women's psychological well-being, underscoring the need for further research into stress-related disorders...

Child and adolescent obesity represents a growing public health crisis, with profound implications for physical and mental well-being. Despite the well-established benefits of physical activity, over 80% of adolescents fail to meet the World Health Organization's (WHO) recommendations for daily exercise. This manuscript explores gym-based strength training as a tailored intervention for obese youth who often struggle with aerobic activities. This paper critically examines medical eligibility,...

CONCLUSION: DTI in pediatric kidney transplants is feasible and showed differences in FA and track length values when compared to controls. However, in our limited dataset, DTI did not find differences within the allograft group.

Fetal bladder rupture is a rare phenomenon with few reported cases in the literature. It is often a complication of congenital abnormalities causing urinary obstruction, such as posterior urethral valves (PUV). Congenital nephrotic syndrome (CNS) is another rare genitourinary disorder characterized by proteinuria, hypoalbuminemia and edema presenting in the first 3 months of life. We present a case of a premature male infant delivered at 32 weeks with fetal ascites from bladder rupture secondary...

Collagens are a diverse family of proteins present in the extracellular matrix (ECM) of all animals. They play crucial roles in providing structural support to tissues, forming scaffolds for ECM suprastructures, and signaling cells. Certain collagen-binding proteins from pathogenic bacteria, such as CollageN Adhesin (CNA) from Staphylococcus aureus, interact with the collagen triple helix to promote host invasion. The extracellular portion of CNA, known as CNA35, which has a molecular weight of...

Throughout their lifetime, patients with chronic kidney disease (CKD) experience evolving dietary needs, influenced by their age and the progression of the disease. A patient-centered approach is vital. In childhood, adequate nutrition is vital for managing CKD and supporting growth and development, especially for growth spurts during adolescence. For adults who develop CKD, especially those in moderate to advanced stage, dietary modifications -such as reducing protein, sodium, and phosphorus...

Human alanine:glyoxylate aminotransferase (AGT) is a liver peroxisomal enzyme that metabolizes glyoxylate, the oxalate precursor, to glycine. AGT deficiency, due to recessive pathogenic changes in the AGXT gene, results in calcium oxalate accumulation and kidney stones, a condition known as primary hyperoxaluria type 1 (PH1). Most missense variants lead to PH1 by causing AGT misfolding, but their effects manifest differently based on the presence of two polymorphic variants, p.Pro11Leu (p.P11L)...

Type 2 diabetes (T2D) is a pandemic and strongly impact patients' prognosis. Several barriers may hamper the achievement of good glycaemic control, which is the aim of diabetes care. These include but are not limited to poor treatment adherence, poor self-management, and heterogeneity of the disease context. Diabetes self-management is critical, particularly in insulin-treated patients and it is largely based on glucose monitoring, which allows recording glucose levels to make informed decisions...

ANCA-associated vasculitis (AAV) is comprised of three specific conditions: granulomatosis with polyangiitis (GPA), microscopic polyangiitis (MPA) and eosinophilic granulomatosis with polyangiitis (EGPA). Since the publication of the last British Society for Rheumatology (BSR) and British Health Professionals in Rheumatology (BHPR) guideline for the management of adults with AAV in 2014, a plethora of randomized controlled trials, additional research and recommendations have provided novel...

CONCLUSIONS: Hepatosplenic Bartonella infection in renal transplant recipients may require prolonged antimicrobial therapy. Given the risk of relapse and the need to balance immunosuppressive therapy, an individualized treatment duration should be considered. Imaging modalities play a crucial role in monitoring treatment response. Further studies are needed to establish optimal treatment strategies in immunocompromised patients.

Load-bearing soft tissues, such as tendons, cartilage, and ligaments, withstand substantial mechanical stress and are susceptible to injury, particularly in athletes. The increasing prevalence of these injuries poses a significant challenge, exacerbated by the limitations of traditional treatments, which often lead to lengthy recovery periods and a high risk of recurrence. In recent years, researchers have harnessed the electrical properties of conductive and piezoelectric biomaterials to...

In a survey conducted within the Children's Hospital Neonatal Consortium (CHNC), the Kidney Focus Group aimed to describe the resource and practice variations among participating level IV neonatal intensive care units.A 24-question survey was developed by neonatologists and pediatric nephrologists who belong to the Kidney Support Therapy (KST) subgroup of the CHNC Kidney Focus Group.The majority (89.5%) of responding centers offered some form of KST, with > 90% centers offered prenatal...

CONCLUSION: CT identified key plaque features, especially ulceration and calcification. MRI provided thorough plaque assessment by detecting all features and differentiating IPH age. For overall morphology, CT and MRI surpassed US accuracy.

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CONCLUSION: This study provides significant data on the pathogenicity of OCRL splicing variants and genotype-phenotype correlations. In c.561-2 A > G, the latter altered initiation codon of the OCRL isoform (Met206) was preserved, potentially indicating the Dent disease-2 phenotype. This result supports our recent finding regarding the altered initiation codons in exon 8 of the OCRL isoform.

CONCLUSION: In patients with AS receiving standard of care, rapid decline in kidney function strongly correlates with UACR and AEs related to the underlying medical condition are rare. Both findings enrich the design of future interventional trials.

Apparent Mineralocorticoid Excess (AME) syndrome is a rare form of high-blood pressure syndrome caused by genetic mutations in the 11b-hydroxysteroid dehydrogenase type 2 (HSD11B2) gene, inherited in an autosomal recessive manner. The condition can be either congenital or acquired. This report presents two cases of AME in children from consanguineous families identified through clinical assessment and whole-exome sequencing (WES). Symptoms included high blood pressure, hypokalemia, and metabolic...

CONCLUSION: These findings highlight the importance of standardizing antibody detection methods.

CONCLUSION: Based on this real-world survey of patients with BBS and their caregivers, setmelanotide improved key symptoms related to insatiable hunger and obesity. Personalized multidimensional nursing support at the start of treatment can help address unmet support needs in BBS and may contribute to high rates of treatment satisfaction and adherence.

During the COVID-19 pandemic, adenoviral vaccines drew attention due to a potential life-threatening coagulation disorder, the vaccine-induced immune thrombotic thrombocytopenia (VITT). Patients deceased of VITT have been accepted as organ donors despite safety concerns regarding the transmission of VITT to recipients. The outcome of adult kidney graft recipients was reported favorable in most cases, however, (thrombotic) complications were observed more frequently. We present two pediatric...

CONCLUSIONS: Electrocardiometry can assess the hemodynamic profile of children receiving CKRT. Compensatory cardiovascular changes remain intact in children receiving CKRT, as evidenced by correlations between SVI, SVRI, CI, and MAP. Future studies should investigate how this technology could enable more individualized CKRT prescriptions and improve patient outcomes.

During the COVID-19 pandemic, adenoviral vaccines drew attention due to a potential life-threatening coagulation disorder, the vaccine-induced immune thrombotic thrombocytopenia (VITT). Patients deceased of VITT have been accepted as organ donors despite safety concerns regarding the transmission of VITT to recipients. The outcome of adult kidney graft recipients was reported favorable in most cases, however, (thrombotic) complications were observed more frequently. We present two pediatric...

Cystinuria, characterized by defective renal absorption of cystine causing recurrent nephrolithiasis, demands ongoing management. This study examines the effects of COVID-19-related disruptions in tiopronin availability on the clinical outcomes of pediatric cystinuria patients. This retrospective cohort study analyzed medical records of 11 pediatric patients with cystinuria, followed from 2001 to 2023. Patients were diagnosed using urine microscopy/biochemistry and stone composition analysis....

To investigate the real-world effectiveness of COVID-19 vaccines in a large cohort of patients with diabetes mellitus (DM), we analyzed all >18-year-old patients with COVID-19 registered in a Brazilian nationwide surveillance database between February 2020 and February 2023. The primary outcome of interest was vaccine effectiveness against death, evaluated using multivariate logistic regression models. Among the 2,131,089 patients registered in the SIVEP-Gripe, 482,677 (22.6%) had DM. After...

Chronic care manages long-term, progressive conditions, while acute care addresses short-term conditions. Chronic conditions increasingly strain health systems, which are often unprepared for these demands. This study examines the burden of conditions requiring acute versus chronic care, including sequelae. Conditions and sequelae from the Global Burden of Diseases Study 2019 were classified into acute or chronic care categories. Data were analysed by age, sex, and socio-demographic index,...

CONCLUSIONS: LC pts show more microvascular alterations at NVC as compared with RC patients and CNT, which may contribute to the pathogenesis of persistent organ/systems dysfunction.

Maintenance hemodialysis patients are at increased risk of cardiovascular complications and mortality following COVID-19 infection due to compromised immune function. This study aims to evaluate the impact of the COVID-19 vaccine (CoronaVac) on cardiac function and survival in this population. Background/Objectives: We aimed to examine whether CoronaVac vaccination affects heart function and survival rates in maintenance hemodialysis patients. Specifically, we assessed changes in heart...

CONCLUSIONS: The finalized mortality dataset for Belgrade can be safely used in COVID-19 impact analysis. Belgrade experienced a significant increase in mortality during 2020 and 2021, with most of the excess mortality attributable to SARS-CoV-2. Concerns about increased mortality from causes other than COVID-19 in Belgrade seem misplaced as their impact appears negligible.

Solid organ transplantation (SOT) is a life-saving procedure for those with end-stage organ dysfunction. The main goals of SOT are to improve quality of life and daily function, which are supported by pre- and post-transplant rehabilitation. In-person rehabilitation programs have traditionally been the standard-of-care for delivering rehabilitation for SOT patients. Many programs have adopted a virtual delivery model [telerehabilitation (TR)], an approach that has become increasingly used given...

CONCLUSIONS AND RELEVANCE: In this large US cohort study of children and adolescents, SARS-CoV-2 infection was associated with a higher risk of adverse postacute kidney outcomes, particularly among those with preexisting CKD or AKI, suggesting the need for vigilant long-term monitoring.

CONCLUSION: The nomogram offers accurate risk prediction for nephritis in children with HSP, helping healthcare professionals identify high-risk patients early and make informed clinical decisions.

ObjectivesTo evaluate disease flares and associated factors, as well as the Coronavirus disease 2019 (COVID-19) among adolescents with systemic lupus erythematosus (SLE) after receiving COVID-19 vaccination. Additionally, it sought to determine any difference in year-on-year flare rates before and after vaccination.MethodsWe conducted a 12-month prospective study in adolescent SLE (adoSLE) patients aged 12-18 years who had no prior history of COVID-19 and received a 2-dose BNT162b2 mRNA COVID-19...

CONCLUSIONS: A fourth dose of BNT162b2 was immunogenic and safe in children with CKD.

Nephrotic syndrome (NS) is a common cause of chronic glomerular disease. However, the precise way in which one or more risk exposure traits of renal injury lead to NS remains unclear. In this study, we systematically examined the causal relationships between NS and various exposure traits, including traits related to chronic hepatitis B/C infection, COVID-19 (hospitalized), general allergy status, herbal tea intake, immunoglobulin E, childhood obesity, and the human leukocyte antigen (HLA)-II...

Severe cardiovascular involvement is associated with mortality in multisystem inflammatory syndrome in children (MIS-C). This study aimed to test a previously published cardiogenic shock risk score at diagnosis of MIS-C and build a new screening tool in a larger pediatric cohort. The first score published in a single-center cohort (age > 8 years, time to diagnosis ≥ 6 days, and NT-proBNP at diagnosis ≥ 11.10³ ng/L) was tested in a multicenter cohort of pediatric patients diagnosed with MIS-C...

In December 2021, the Federal Drug Administration (FDA) approved emergency use authorization of nirmatrelvir-ritonavir (Paxlovid) to prevent serious SARS-CoV-2 infections in high-risk patient populations. We present the case of a 16-year-old male with steroid-resistant nephrotic syndrome who developed tacrolimus toxicity after initiation of Paxlovid therapy. The ritonavir component strongly inhibits CYP3A4 enzymes, thereby leading to the accumulation of tacrolimus in the blood. This patient's...

BackgroundCurrently, there are limited studies on the adaptation of medical university students and the factors influencing their adaptation.ObjectiveThis study aims to evaluate the adaptation status of medical university students, identify the variables influencing their adaptation, and propose scientific methods and strategies for managing their adaptation process.MethodsA convenient cluster sampling method was used to select 1121 students from a medical university in China. The participants...

CONCLUSIONS: Additional doses of the COVID-19 vaccine bolstered durable serologic responses in pediatric kidney transplant recipients, and this study broadens our understanding of immune responses to COVID-19 vaccinations in this population.

Viral infections in the first year of life are associated with islet autoimmunity and type 1 diabetes risk. The Anti-Viral Action against Type 1 Diabetes Autoimmunity (AVAnT1A)- study is a clinical phase IV investigator initiated, randomised, controlled, multicentre, primary prevention trial conducted to determine whether vaccination against COVID-19 from 6 months of age reduces the cumulative incidence of islet autoantibodies or type 1 diabetes in children with elevated genetic risk....

CONCLUSION: A significant proportion of parents were hesitant to vaccinate their children with SLE against COVID-19. These insights underscore the importance of developing targeted educational interventions to address specific parental concerns and improve vaccine uptake in children with SLE.

Coronavirus disease 2019 (COVID-19) presents a wide spectrum of symptoms, the causes of which remain poorly understood. This study explored the associations between autoantibodies (AABs), particularly those targeting G protein-coupled receptors (GPCRs) and renin‒angiotensin system (RAS) molecules, and the clinical manifestations of COVID-19. Using a cross-sectional analysis of 244 individuals, we applied multivariate analysis of variance, principal component analysis, and multinomial regression...

The coronavirus disease 2019 (COVID-19) pandemic, instigated by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), has profoundly impacted healthcare infrastructures around the globe. While children are usually asymptomatic or have mild symptoms, children with pre-existing kidney conditions require specialized attention. This pivotal report, championed by the International Pediatric Nephrology Association (IPNA), delivers precise and actionable recommendations tailored for...

Objective Patients who do not wait (DNW) to be seen are a problem for emergency department (ED) care. The aim of this study was to identify the rate and reasons of DNW patients during 1month of the COVID-19 pandemic. Methods An observational cohort study of DNW patients presenting to Austin Hospital ED was carried out in August 2021. Patients were identified using hospital coding data and surveyed by telephone. DNW patients' reasons were explored, and their demographics and clinical outcomes...

CONCLUSIONS: COVID-19 in neonates with PPHN is challenging and may be associated with increased mortality, severity, ICU admission, ARDS, MIS-N, and MV usage. The results should be interpreted with caution owing to the small number of studies and substantial heterogeneity and indicate a need for future research in this area. Due to its benefits, testing for SARS-CoV-2 should be encouraged for newborns with symptoms consistent with COVID-19, especially in neonates with a history of SARS-CoV-2...

OBJECTIVE: Compare the prevalence and severity of anxiety and depression among people with epilepsy (PWE) evaluated by telemedicine during the initial stages of the COVID-19 pandemic and follow up on their status 15 months later.

CONCLUSIONS: Our data emphasized the significant effect of viral infections on pediatric kidney transplant recipients. Early diagnosis and treatment in kidney transplant recipients are important, and clinicians should be alert.

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CONCLUSION: Hospitalization was associated with age and the presence of comorbidities. COVID-19-related fatality was linked to sex, age, and the accumulation of NT and AA substitutions in emerging Omicron subvariants.

BACKGROUND: Smoking is the leading behavioural risk factor for mortality globally, accounting for more than 175 million deaths and nearly 4·30 billion years of life lost (YLLs) from 1990 to 2021. The pace of decline in smoking prevalence has slowed in recent years for many countries, and although strategies have recently been proposed to achieve tobacco-free generations, none have been implemented to date. Assessing what could happen if current trends in smoking prevalence persist, and what...

CONCLUSIONS: The results suggesting that an aTreg fraction could represent a possible marker of a severe disease course with infectious complications. Augmented homeostatic STAT5 signalling could support aTreg expansion, as higher pSTAT5 levels were significantly correlated with an increased aTreg frequency among CD4^(+)FOXP3^(+) T cells during the follow-up of patients on therapy, as well as following SARS-CoV-2 antigen-specific stimulation in vitro.

CONCLUSIONS: In a largely unvaccinated population of children with nephrotic syndrome and CKD, 61.3% were seropositive for SARS-CoV-2 IgG antibody indicating a past asymptomatic infection; titers were significantly higher in CKD compared to nephrotic syndrome.

BACKGROUND: Up-to-date estimates of stroke burden and attributable risks and their trends at global, regional, and national levels are essential for evidence-based health care, prevention, and resource allocation planning. We aimed to provide such estimates for the period 1990-2021.

CONCLUSIONS: High rates of COVID-19 vaccination hesitancy exist among parents/guardians from historically marginalized groups. Barriers to vaccination were frequently related to side effects, whereas a high level of trust in healthcare providers as sources of information may be a facilitator. Strategies to improve health outcomes and boost vaccination rates should focus on equipping pediatric healthcare providers with the knowledge and skills necessary to address these known barriers to COVID-19...

Assessing the acceptance of the monkeypox vaccine is crucial for the success of vaccination programs, yet the prevalence reports remain inconclusive. The aim of this study was to determine the global prevalence of monkeypox vaccine acceptance and identify its associated factors. A meta-analysis was conducted with a comprehensive search strategy on the following databases, including Scopus, Embase, and PubMed, for articles published up to April 5, 2024. This study utilizes a single-arm...

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Cardiovascular manifestations of coronavirus disease 2019 (COVID-19) include myocardial injury, heart failure, and myocarditis and are associated with long-term disability and mortality. Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) RNA and antigens are found in the myocardium of COVID-19 patients, and human cardiomyocytes are susceptible to infection in cell or organoid cultures. While these observations raise the possibility that cardiomyocyte infection may contribute to the...

We conducted this systematic review and meta-analysis to clarify the trend of precocious puberty (PP) incidence after the COVID-19 outbreak and explore potential contributing factors, such as age at presentation and body mass index (BMI) SD score (SDS). Children visiting pediatric endocrinology clinics for the first time for suspected PP were included. We searched databases until February 28, 2023, for studies reporting various indicators of PP incidence before and during the pandemic. Total...

Multisystemic inflammatory syndrome (Mis-C) has emerged in May 2020 as a serious complication of coronavirus disease (COVID-19) caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV2). A total of 6 children presented to tertiary care hospitals with Mis-C, of which 5 (83%) have died during hospitalization. All included patients presented with respiratory symptoms (ranged from mild to severe acute respiratory distress syndrome) and gastrointestinal symptoms. Most of the patients are...

CONCLUSION: The T1D incidence did not increase significantly, when comparing the years before and during the COVID-19 pandemic, nor did key metabolic parameters or number of DKA episodes change.

The COVID-19 era has been a reminder to clinicians around the world of the important role that viral infections play in promoting glomerular disease. Several viral infections including human immunodeficiency virus (HIV), severe acute respiratory syndrome coronavirus 2, Epstein-Barr virus, cytomegalovirus, and parvovirus B19 can cause podocyte injury and present with a collapsing glomerulopathy (CG) variant of focal segmental glomerulosclerosis or minimal change disease. CG associated with...

This study analyzed 550 hemodialysis patients, 469 unvaccinated and 81 vaccinated against COVID-19, to assess the impact on infection rates, mortality, and clinical/laboratory parameters. Gender distribution was similar (p = 0.209), but the vaccinated group's median age was significantly lower (p = 0.005). Hospitalization rates showed no significant difference (p = 0.987), while mortality was lower in the vaccinated group (p = 0.041). Only uric acid levels were significantly higher in the...

CONCLUSION: Patients with COVID-19 who are aged <18 and ≤5 years have increased risks of MIS-C and KD, respectively. Further studies are required to confirm the role of COVID-19 in the pathogenesis of MIS-C and KD.

CONCLUSIONS AND LIMITATIONS: There was no significant difference in mean clinical severity score between eculizumab and placebo groups – since the trial was underpowered, this cannot be interpreted as evidence of no effect. No significant safety concerns were observed. With further validation, the Eculizumab in Shiga-toxin-producing Escherichia coli Haemolytic Uraemic Syndrome clinical severity score may be an outcome measure for future trials. Our results imply that Shiga toxin causes...

CONCLUSIONS: Patients with MIS-C have a sustained recovery, which is reassuring for positive long-term outcomes. Across waves, time from symptom onset to diagnosis and treatment, symptomatology and length of stay were similar. Sustained recovery is reassuring for clinicians and parents alike. Differentiating long-COVID symptomatology from that of MIS-C is important in formulating an individualized treatment plan.

CONCLUSIONS: The number of PED visits and the Ped-TTAS level of disease severity significantly increased during the SARS-CoV-2 Omicron BA.2 outbreak. The most common symptom was fever, and high fever was more common in patients with SARS-CoV-2 Omicron BA.2 infection. The rates of patients with croup and febrile seizures also increased.

CONCLUSIONS: COVID-19 can be associated with HUS relapses, leading to chronic kidney disease. Further studies should investigate the mechanism of HUS associated with COVID-19.

CONCLUSIONS: There was a clear trend towards improvement in the overall health status of the EU but with differences between countries. EU health policymakers need to address the burden of diseases, paying specific attention to causes such as mental disorders. There are many opportunities for mutual learning among otherwise similar countries with different patterns of disease.

Cancers of the kidney and renal pelvis are among the most prevalent types of urinary cancers. We aimed to outline the incidence trends of kidney and renal pelvis cancers by age, sex, race/ethnicity, and histology in the United States (US) from 2000 to 2020. The data was obtained from the Surveillance, Epidemiology, and End Results (SEER) 22 database. The identification of patients with kidney and renal pelvis cancers with morphologies of renal cell carcinoma, nephroblastoma, sarcoma, and...

This study investigated the clinical effectiveness of nirmatrelvir plus ritonavir (NMV-r) on short-term outcome and the risk of postacute sequelae of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection (PASC) among pediatric patients with coronavirus disease 2019 (COVID-19). This retrospective cohort study used the TriNetX research network to identify pediatric patients between 12 and 18 years with COVID-19 between January 1, 2022 and August 31, 2023. The propensity score...

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CONCLUSION: Heatmap analyses reveal a significant but incomplete overlap of RD clinical trial sites between ERNs and c4c in parts of Europe, suggesting strong potential for cross-network collaboration to enhance paediatric RD trial recruitment and outcomes.

CONCLUSION: In our cohort, children's DDS clinical trajectory was associated with exon localization. In the era of genomic newborn screening, depicting genetic risk is of utmost importance for personalized patient care.

CONCLUSIONS: Current amoxicillin-clavulanate dosing regimens for critically ill children after cardiac surgery need to be updated to avoid subtherapeutic concentrations and clinical failure due to augmented clearance (ClinicalTrials.gov NCT02456974).

Acute leukaemias represent the 1st cause of cancer in children. Their prognosis has improved significantly due to remarkable advances in therapeutic management, despite the risk of long-term consequences, especially for patients who underwent allogenic hematopoietic stem cell transplantation (aHSCT). Through the Leukaemia in Children and Adolescents (LEA) long-term follow-up cohort, we conducted a French national multicentre prospective study on the occurrence and risk factors of chronic kidney...

CONCLUSIONS: Significant histologic LN findings are observed in 30% of SLE patients without overt kidney disease; frequently associated with high-titer dsDNA, anti-Smith antibodies, and/or hypocomplementemia. Thus, baseline kidney biopsy in newly diagnosed SLE patients, irrespective of clinical and laboratory manifestations, may aid in guiding therapy.

We report here the case of a 16-year-old girl with chronic kidney disease, where biopsy revealed tubulointerstitial nephropathy with granulomas. Initial treatments included immunosuppressive therapy unless genetic testing with exome sequencing identified nephronophthisis due to a homozygous deletion of the NPHP1 gene, marking a unique instance of granulomatous nephropathy related to nephronophthisis. With severe kidney damage, her function has not recovered, necessitating peritoneal dialysis and...

Childhood-onset systemic lupus erythematosus (cSLE) is a severe lifelong and life-threatening autoimmune disease with multi-organ involvement. Compared to those with adult-onset disease, cSLE patients have more aggressive disease with a higher prevalence of early lupus nephritis (LN) causing worse kidney and patient outcomes. The transfer of adolescent patients to adult healthcare poses several major challenges, from a disease as well as a psychosocial perspective. Transitional care even in...

Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome is caused by heterozygous germline variants in the fumarate hydratase (FH) gene [1,2]. Inheritance follows an autosomal dominant pattern. Loss of FH confers a predisposition for various benign and malignant neoplasms, including cutaneous leiomyomas, uterine fibroids and FH-deficient renal cell carcinoma [3]. While benign, cutaneous and uterine manifestations have a relevant impact on quality of life and risk for complications...

CONCLUSIONS: Based on pharmacokinetic modeling, we developed oral and intravenous eliglustat dosing regimens that are likely safe and effective for treatment of STEC-HUS and prophylaxis in case of outbreaks of STEC infections. Clinical evaluation of these dosing regimens in children suspected of or diagnosed with STEC-HUS is required and should include assessment of pharmacokinetics, efficacy, and safety (e.g., ECG monitoring).

CONCLUSIONS: In this real-world setting, sparsentan shows a significant impact on proteinuria, leading to a relative reduction of 62% in UPCR after 14 weeks and beyond, even in patients already receiving SGLT2 inhibitors.

CONCLUSION: Laws or written national recommendations for paediatric maintenance HD are rare in European countries and very heterogeneous when they exist. This calls for discussion among paediatric and adult nephrologists and health authorities on the organisation of safe and effective paediatric HD practices.

Methylmalonic acidemias (MMAs) are rare inherited metabolic diseases with multiorgan involvement. Chronic kidney disease (CKD) is a common complication, leading to kidney failure, dialysis, and kidney transplantation (KT). The objective of these guidelines was to develop clinical practice recommendations focusing on specific aspects of the kidney management of this disease. Development of these clinical practice recommendations is an initiative of the European Reference Network for Rare Kidney...

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During the progression of chronic kidney disease (CKD), the retention of uremic toxins plays a key role in the development of uremic syndrome. Knowledge about the nature and biological impact of uremic toxins has grown exponentially over the past decades. However, the science on reducing the concentration and effects of uremic toxins has not advanced in parallel. Additionally, the focus has remained for too long on dialysis strategies, which only benefit the small fraction of people with CKD who...

CONCLUSION: This survey shows that the practice of paediatricians and general practitioners are in accordance with the new recommendations for vitamin D supplementation in very young children. The identification by this survey of knowledge gaps will allow targeted information campaigns.

Rare kidney diseases encompass a wide range of congenital, inherited and acquired conditions. Two million Europeans are affected by rare kidney diseases. The European Rare Kidney Disease Reference Network (ERKNet) aims to improve the clinical management of patients with these diseases. ERKNet encompasses 95 highly specialized adult and pediatric nephrology units at 72 sites in 24 European Union (EU) member states, as well as a group of patient advocates (European Patient Advocacy Group, ePAG)....

CONCLUSION: This study revealed substantial variation in clinical practices among European centres performing pediatric kidney transplantations. These findings could serve as a stimulus for international dialogue and collaboration.

CONCLUSIONS: This study suggests that cystic kidney disease may develop since the very early stages of life and that screening programs based on ultrasound scans and genetic testing play a critical role in diagnosis, allowing for better clinical management and tailored genetic counseling to the family.

CONCLUSION: In infants and young children with PH1, long-term lumasiran treatment resulted in sustained reductions in urinary and plasma oxalate that were sustained for 30 months, with an acceptable safety profile. Kidney function remained stable, low kidney stone event rates were observed through Month 30, and nephrocalcinosis grade improvements were observed through Month 24.

Predicting future kidney allograft function is challenging. Novel biomarkers, such as urinary Dickkopf-3 (uDKK3), may help guide donor selection and improve allograft outcomes. In this prospective multicenter pilot trial, we investigated whether donor uDKK3 reflects organ quality and is associated with future allograft function. We measured uDKK3/crea ratios (uDKK3/crea) from 95 deceased and 46 living kidney donors. Prenephrectomy uDKK3/crea levels were 100× higher in deceased than in living...

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Four European Reference Networks (ERN-EYE, ERKNet, Endo-ERN, ERN-ITHACA) have teamed up to establish a consensus statement and recommendations for Bardet-Biedl syndrome (BBS). BBS is an autosomal recessive ciliopathy with at least 26 genes identified to date. The clinical manifestations are pleiotropic, can be observed in utero and will progress with age. Genetic testing has progressively improved in the last years prompting for a revision of the diagnostic criteria taking into account clinical...

CONCLUSIONS: The present study demonstrates that treatment selection based on voiding diaries improves response to first-line treatment, particularly in specific subtypes. Information from voiding diaries together with clinical and demographic information provides the basis for predicting response.

The benefits of dietary fiber are widely accepted. Nevertheless, a substantial proportion of children fail to meet the recommended intake of dietary fiber. Achieving adequate fiber intake is especially challenging in children with chronic kidney disease (CKD). An international team of pediatric renal dietitians and pediatric nephrologists from the Pediatric Renal Nutrition Taskforce (PRNT) has developed clinical practice recommendations (CPRs) for the dietary intake of fiber in children and...

CONCLUSIONS: Over the last two decades the proportion of patients receiving a first kidney transplant preemptively has more than doubled, reflecting a similar relative increase for living and DD kidney recipients.

Homozygous familial hypercholesterolaemia is a life-threatening genetic condition, which causes extremely elevated LDL-C levels and atherosclerotic cardiovascular disease very early in life. It is vital to start effective lipid-lowering treatment from diagnosis onwards. Even with dietary and current multimodal pharmaceutical lipid-lowering therapies, LDL-C treatment goals cannot be achieved in many children. Lipoprotein apheresis is an extracorporeal lipid-lowering treatment, which is used for...

CONCLUSION: FIONA is evaluating the use of finerenone in children with CKD and proteinuria. Should safety, tolerability, and efficacy be demonstrated, finerenone could become a useful additional therapeutic agent in managing proteinuria and improving kidney outcomes in children with CKD.

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by the presence of proliferative lesions throughout the body. Management of TSC is challenging because patients have a multifaceted systemic illness with prominent neurological and developmental impact as well as potentially severe kidney, heart and lung phenotypes; however, every organ system can be involved. Adequate care for patients with TSC requires a coordinated effort involving a multidisciplinary team of...

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CONCLUSIONS: Future longitudinal research is needed to develop this concept and further identify transitions and temporal dynamics.

BACKGROUND: Shrunken pore syndrome (SPS) is defined as cystatin C-based-eGFR (eGFRcys)/creatinine-based-eGFR (eGFRcreat) <0.6 or 0.7 and is associated with an increased cardiovascular risk. SPS has been described in children, but no link to increased morbi-mortality was demonstrated.

CONCLUSIONS: We report a long-term inverse association between living donor kidney transplantation and the risk of graft failure. The determinants of graft failure varied with time. There was a significant cumulative effect of adolescence and time post-transplant. The ideal donor age window was dependent on time post-transplant.

CONCLUSIONS: Our findings raise PICU clinician awareness about increased risk for ARC after major surgery and in patients with eGFR above age-specific thresholds. This knowledge enables identification of patients with an ARC risk profile who would potentially benefit from a dose increase at initiation of treatment to avoid underexposure.

CONCLUSION: Lisinopril dose and regimen adjustments for paediatric patients should include eGFR on top of weight adjustments. An expanded model characterizing the pharmacodynamic effect is required to identify the optimal dose and dosing regimen.

CONCLUSION: We found no elevated risk of developing hypertension or LVH in patients with XLH.

CONCLUSIONS: Microdialysis is a safe and applicable method for the measurement of tissue drug concentrations in piglets and children. This study demonstrated the impact of experimental settings, sepsis, and target population on individual RR.

Several high-risk medical devices for children have become unavailable in the European Union (EU), since requirements and costs for device certification increased markedly due to the EU Medical Device Regulation. The EU-funded CORE-MD project held a workshop in January 2023 with experts from various child health specialties, representatives of European paediatric associations, a regulatory authority and the European Commission Directorate General Health and Food Safety. A virtual follow-up...

CONCLUSIONS: The data of this survey indicate the need to implement genetic testing in suspected cases of primary hyperoxaluria, not only in the setting of dialysis or transplantation, but also with the aim of encouraging early diagnosis of PH1, which is the only type of primary hyperoxaluria for which specific drug therapy is currently available.

CONCLUSIONS: Kidney stone formers have lower net gastrointestinal alkali absorption, and this explains differences in urine composition and the likelihood of stone formation.

CONCLUSIONS: Leptospirosis and hantavirus associated ATIN share common clinical and biochemical features. Due to the low incidence in Europe these infectious causes of kidney dysfunction may be overlooked. Glucocorticoids may be considered in the management of ATIN.

CONCLUSIONS: ANCA-positive LN patients frequently have histological markers of severe activity (proliferative classes and high activity index) that require timely diagnosis and aggressive therapy to limit the development of irreversible chronic kidney damage.

Renal lithiasis is less frequent in children than in adults; in pediatrics, lithiasis may be caused by genetic abnormalities, infections, and complex uropathies, but the association of urological and metabolic abnormalities is not uncommon. The aim of this study is to provide a synthesis of nephrolithiasis in children and to emphasize the role of hydration in its treatment. As an etiology is reported in 50% of cases, with a genetic origin in 10 to 20%, it is proposed to systematically perform a...

Primary hyperoxaluria (PH) is an inherited disorder that results from the overproduction of endogenous oxalate, leading to recurrent kidney stones, nephrocalcinosis and eventually kidney failure; the subsequent storage of oxalate can cause life-threatening systemic disease. Diagnosis of PH is often delayed or missed owing to its rarity, variable clinical expression and other diagnostic challenges. Management of patients with PH and kidney failure is also extremely challenging. However, in the...

The incidence of urolithiasis in children has increased over the two last decades. Urolithiasis formation results from urine oversaturation following insufficient water intake, urinary obstruction (notably in cases of congenital uropathies), excess production of an insoluble compound, or imbalance between crystallization promoters and inhibitors. Whereas most urolithiases in adults occur secondary to environmental factors, in children, secondary causes are far more frequent, and 15% are related...

Multicentric carpo-tarsal osteolysis (MCTO) is a rare osteolysis syndrome mainly involving carpal and tarsal bones usually presenting in early childhood. MCTO has autosomal dominant inheritance with heterozygous mutation in the MAFB gene. The skeletal disorder is often associated with chronic kidney disease. Data on clinical characterization and best treatment option of MCTO-associated nephropathy are scarce and mostly limited to case reports. With the aim to better define the phenotype and...

CONCLUSIONS: Lumasiran resulted in substantial reductions in POx with acceptable safety in patients with PH1 who have advanced kidney disease, supporting its efficacy and safety in this patient population.

Kidney dysplasia is one of the most frequent causes of chronic kidney failure in children. While dysplasia is a histological diagnosis, the term 'kidney dysplasia' is frequently used in daily clinical life without histopathological confirmation. Clinical parameters of kidney dysplasia have not been clearly defined, leading to imprecise communication amongst healthcare professionals and patients. This lack of consensus hampers precise disease understanding and the development of specific...

Cystinosis is a rare autosomal recessive disease leading to end-stage renal disease within the second or third decade of life. Since the era of specific treatment with cysteamine, prognosis has substantially improved and pregnancy becomes an increasing concern. Pregnancy data in patients with cystinosis were collected through an anonymized survey. We collected data for 19 pregnancies in 12 women. Seventeen patients were transplanted, 1 was on hemodialysis and 1 had chronic kidney disease (CKD)...

Parathyroid hormone (PTH) is a hypercalcemic hormone acting on kidneys, bone and intestine. PTH promotes calcium release from the bone, renal calcium reabsorption and phosphate excretion, and conversion of 25-hydroxyvitamin D to 1,25-dihydroxyvitamin D-3. Hyperparathyroidism consists in PTH elevation, which may be adapted (secondary hyperparathyroidism) or non-adapted to calcemia levels (primary hyperparathyroidism, familial hypercalcemia/hypocalciuria, tertiary hyperparathyroidism). Primary...