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.

Autosomal recessive polycystic kidney disease (ARPKD) is a congenital hepatorenal fibrocystic pathology and is one of the most significant childhood nephropathies leading to chronic kidney disease (CKD). While kidney damage has been well studied in this pathology, only a few studies have investigated specific cardiac damage during ARPKD. This study aimed to conduct a large analysis of heart dysfunction during the progression of CKD. ARPKD rats with the Pkhd1 gene mutation (IVS35-2A>T) were...

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.

No abstract

CONCLUSION: Our study highlights KT access disparities particularly for females, the youngest recipients, high-risk age (15-19 years), and diseases with recurrence risk. Notably, pre-emptive transplants and enduring previous grafts offer advantages regarding re-transplantation.

CONCLUSION: Type B lactic acidosis in aggressive malignancies indicates a poor prognosis. In such cases, as in our case, lactic acidosis improves only with appropriate and sufficient chemotherapy, and its improvement is an important indicator that the case is responsive to treatment.

For prehospital providers, there are several causes for the patient with altered mental status or being unconscious to include the mnemonic AEIOU TIPS for Alcohol and acidosis, Endocrine, Epilepsy, Electrolytes, Encephalopathy, Infection, Opiates, Overdose, Uremia, Underdose, Trauma (head injury and blood loss), Insulin, Poisoning, Psychosis, Stroke, Seizure, and Syncope. Hypoglycemia, or low blood glucose level, is one of the most common causes of altered mental status for patients with and...

Autosomal recessive polycystic kidney disease is a rare genetic disorder primarily affecting the kidneys and liver. Clinicians should recognize early signs such as enlarged, echogenic kidneys in utero or during infancy. ARPKD most commonly results from mutations in PKHD1, causing renal cysts and congenital hepatic fibrosis early in life. About half of the patients with ARPKD develop end-stage renal failure requiring renal replacement therapy (dialysis or kidney transplantation) within the first...

Various aggressive lymphomas entities have been associated with immunodeficiency. To provide further evidence that also MYC-negative high-grade B-cell (formerly Burkitt-like) lymphoma with 11q aberrations comprises an immunodeficiency-related subtype, we here conducted a comprehensive pathological and genetic workup of a 25-year-old patient with this type of lymphoma and simultaneous papillary renal cell carcinoma. The patient developed both malignancies following extensive childhood...

CONCLUSION: The majority of patients with pediatric AAV achieve inactive renal disease by 12 months; however, almost half have evidence of damage. Renal function at diagnosis is a strong predictor of renal function at 12 months.

Idiopathic Nephrotic Syndrome (INS) is a common childhood glomerular disease requiring intense immunosuppressive drug treatments. Prediction of treatment response and the occurrence of relapses remains challenging. Biofluid-derived extracellular vesicles (EVs) may serve as novel liquid biopsies for INS classification and monitoring. Our cohort was composed of 105 INS children at different clinical time points (onset, relapse, and persistent proteinuria, remission, respectively), and 19 healthy...

The molecular mechanisms responsible for the heightened reactivity of quiescent T cells in human early life remain largely elusive. Our previous research identified that quiescent adult naïve CD4^(+) T cells express LINE1 (long interspersed nuclear elements 1) spliced in previously unknown isoforms, and their down-regulation marks the transition to activation. Here, we unveil that neonatal naïve T cell quiescence is characterized by enhanced energy production and protein synthesis. This...

Maintenance peritoneal dialysis (PD) is the most used kidney replacement therapy for children with kidney failure throughout the world. Underlying causes of kidney failure, indications for dialysis, body size, and nutritional requirements differ between children and adults on PD. These differences, along with the ongoing growth and development that occurs throughout childhood, impact PD access, prescription, and monitoring in children. This review highlights the unique challenges and management...

CONCLUSION: Life expectancy of 18-year-old kidney transplant recipients was lower compared with the general population, yet having a functioning kidney graft at age 18 years resulted in better outcomes than being on dialysis. Nevertheless, between ages 18 and 23 years, about one-fifth of the kidney grafts failed and one-third of the patients remained on dialysis.

CONCLUSIONS: The case demonstrates how important it is in these subjects to evaluate not only the kidneys but also the liver which could present polycystosis and cause liver failure, affecting the severity of the pathology and death. This data is important to emphasize in the clinical management of these patients a close monitoring of liver function also from a preventative perspective in life.

DNASE1L3 is an extracellular nuclease that digests chromatin released from apoptotic cells. DNASE1L3 variants impair the enzyme function, enhance autoantibody production and type I interferon (IFN-I) responses, and cause different autosomal recessive phenotypes ranging from hypocomplementemic urticarial vasculitis syndrome to full-blown systemic lupus erythematosus (SLE). Kidney involvement in patients with DNASE1L3 variants is poorly characterized. Herein, we describe the clinical course of 3...

CONCLUSIONS: Rescaled serum creatinine (SCr/Q) slightly increases during multidiscipline lifestyle intervention in this cohort of children with overweight and obesity. This effect seems to be independent from change in BMI z-score. Whether this minor decrease in estimated kidney function has clinical consequences in the long term remains to be seen in trials with a longer follow-up period.

As outcomes and survival for children with chronic kidney disease (CKD) have improved over the last 30 years, there is an emerging need to characterize and understand later educational and employment outcomes across the spectrum of pediatric CKD severity-ranging from mild CKD to requirement for dialysis and kidney transplantation. Although large-scale research on the topic of long-term educational and employment outcomes in the pediatric CKD population is relatively scarce, the existing...

CONCLUSIONS: In the presence of Stx-1 or TNF-α or both treatments, ECs were activated, expressing higher levels of P-selectin and lower levels of VWF. Our findings, further, provide evidence that Stx-1 downregulates ERG, repressing angiogenesis in vitro.

CONCLUSIONS: In this 11-year follow-up report of 2 Israeli families with AME, patients who presented early maintained long-term normal kidney function, while those who presented late progressed to ESKD. Nevertheless, despite early diagnosis and management, AME is commonly associated with serious complications of the disease or its treatment.

Children with end-stage kidney disease (ESKD) face a lifetime of complex medical care, alternating between maintenance chronic dialysis and kidney transplantation. Kidney transplantation has emerged as the optimal treatment of ESKD for children and provides important quality of life and survival advantages. Although transplantation is the preferred therapy, lifetime exposure to immunosuppression among children with ESKD is associated with increased morbidity, including an increased risk of...

CONCLUSION: Worse Black and White disparities in SLE outcomes are observed at children's hospitals serving more Black children, whereas distinct patterns are observed for Hispanic and non-Hispanic disparities. Reporting of hospital characteristics related to populations served is needed to identify modifiable drivers of hospital-level variation.

CONCLUSION: PH1 is not an isolated kidney disease but a systemic disease. Family screening helps to preserve kidney function and prevent systemic complications. Despite all efforts made with traditional treatment methods including transplantation, our results show devastating outcomes or mortality.

CONCLUSIONS: Kidney outcome in patients with biopsied IgA vasculitis nephritis treated with immunosuppression was determined by clinical risk factors and endocapillary hypercellularity (E1) and fibrous crescents, which are features that are not part of the International Study of Diseases of Children classification.

CONCLUSIONS: TNF inhibitors BIOs are effective in reducing the number of ocular uveitis relapses, preserving visual acuity, allowing a significant GCs-sparing effect, and preventing structural ocular complications.

CONCLUSION: In Chad, childhood idiopathic nephrotic syndrome predominantly affects young males; steroid sensitivity is as high as 95%, and in the long-term, 80% of patients achieve remission with normal renal function.

CONCLUSION: MMC-related CKD is common in childhood in Turkey. A proactive approach to neurogenic bladder management and early protective surgery in selected cases where conservative treatment has failed should be implemented to prevent progressive kidney failure in the pediatric MMC population in our country.

CONCLUSIONS: Children with CKD exhibit a marked and progressive decline in EF1 with falling eGFR. This suggests that EF1 is a more sensitive marker of LV dysfunction when compared to other structural or functional measures and that early LV systolic function is a key feature in the pathophysiology of cardiac dysfunction in CKD.

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...

CONCLUSIONS: Acute kidney injury associated with hemoglobin cast nephropathy is an extremely rare condition in childhood. Although the initial course is severe and potentially life-threatening, the prognosis is favorable with the treatment of the underlying cause and management of AKI. Therefore, pediatricians should be aware of this rare clinical entity during clinical practice.

Aim Nephrotic syndrome is the most common childhood glomerular disorder, but data on the associated complications are limited and predisposing risk factors have not been fully defined. The aim of this study was to evaluate disease- and treatment-related acute and chronic complications in patients with childhood idiopathic nephrotic syndrome (INS), and to identify the risk factors involved in the development of complications. Methods This single-center study was performed at the pediatric...

Diffuse midline gliomas (DMG) are the most aggressive brain tumors of childhood and young adults, with documented 2-year survival rates <10%. Treatment failure is due in part to the function of the BBB. Intratumoral microdialysis sampling is an effective tool to determine brain entry of varied agents and could help to provide a better understanding of the relationship of drug permeability to DMG treatment responsivity. This is a non-randomized, single-center, phase 1 clinical trial. Up to seven...

CONCLUSIONS: Children and young adults with SCD kidney failure have significantly higher mortality when matched to non-SCD kidney failure children and experience a longer mean time to kidney transplant.

CONCLUSION: Childhood kidney disease contributes significantly to hospitalisations at our institution with highest mortality among children with ESKD. The study highlighted the need for provision of essential drugs and kidney replacement therapy for children with kidney disease at our institution.

Nephrotic syndrome (NS) is a clinical entity characterized by proteinuria, hypoalbuminemia, and peripheral edema. NS affects about 2-7 per 100,000 children aged below 18 years old yearly and is classified, based on the response to drugs, into steroid sensitive (SSNS), steroid dependent, (SDNS), multidrug dependent (MDNS), and multidrug resistant (MRNS). Forms of NS that are more difficult to treat are associated with a worse outcome with respect to renal function. In particular, MRNS commonly...

No abstract

CONCLUSIONS: Microscopic polyangiitis was the most frequent AAV subtype with female preponderance, shorter duration of symptoms at onset and higher proportion of racial/ ethnic minority patients. Hispanic children demonstrated frequent MPO positivity. Trends towards higher rates of ICU requirement and need for dialysis upon initial presentation was noted in MPA. Patients with MPA received rituximab more frequently. Future prospective studies are needed to understand differences in presentation...

CONCLUSIONS: Adults after pediatric kidney failure are at risk to experience adverse social and professional outcomes. Increased awareness among healthcare professionals and additional psycho-social support could contribute to mitigate those risks. A higher resolution version of the Graphical abstract is available as Supplementary information.

Improvement in management of pediatric renal disorders has led to patient survival rates of 85-90%, increasing the number of adolescent and young adult (AYA) patients with childhood onset chronic kidney disease (CKD) transitioning to adult care settings. Pediatric CKD patients differ from adults with CKD in view of early onset of disease (sometimes with fetal onset), different disease spectrum, the potential effect of CKD on neurodevelopment, and substantial involvement of parents in medical...

PURPOSE OF REVIEW: Compared with high-income countries, healthcare disparities and inequities are more evident in low, lower-middle, and upper-middle-income countries with poorer housing and nutrition conditions. At least 20% of Latin America and the Caribbean are low and lower-middle-income countries. Despite the majority of the other countries being upper-middle income, the United Nations Children's Fund had classified all the regions as "less developed," with limited access to health care for...

CONCLUSIONS: Short and tall stature and being underweight were associated with a lower likelihood of receiving a kidney allograft. Mortality risk was higher among pediatric KRT patients with a short stature or those being underweight or obese. Our results highlight the need for careful nutritional management and multidisciplinary approach for these patients. A higher resolution version of the Graphical abstract is available as Supplementary information.

BACKGROUND: Childhood-onset chronic kidney disease is a progressive condition that can have a major effect on life expectancy and quality. We evaluated the usefulness of the kidney tubular cell stress marker urinary Dickkopf-related protein 3 (DKK3) in determining the short-term risk of chronic kidney disease progression in children and identifying those who will benefit from specific nephroprotective interventions.

CONCLUSION: Tourette syndrome, which may be accompanied by self-injurious behavior, is a disorder that typically develops in childhood but rarely exacerbates during adulthood. A diagnosis of Tourette syndrome should be considered in cases of unexplained retinal detachment with traumatic features.

CONCLUSIONS: Children with kidney failure lose a substantial number of their potential life years. Female patients and those who develop kidney failure at younger ages experience the greatest burden.

Disruption of the composition and structure of the gut microbiota, namely dysbiosis, dictates the pathophysiology of kidney diseases. The bidirectional kidney-gut axis is of interest in chronic kidney disease (CKD); the uremic milieu leads to intestinal dysbiosis and gut microbial metabolites and toxins implicated in the loss of kidney function and increased comorbidity burden. Considering that kidney diseases can originate in childhood or even earlier in fetal life, identification of the...

CONCLUSIONS: Extra-renal manifestations and intellectual disability in adolescents and young adults with ESKD had considerable impacts on linear growth, mortality, employment, and transfer to adult care.

CONCLUSION: Prediction models accurately identify childhood cancer survivors at low, moderate, and high risk for late kidney failure and may inform screening and interventional strategies.

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),...

CONCLUSIONS: The spectrum of kidney disease has changed within the last 14 years. The relative frequency of MN and DN increased significantly, while that of HBVN decreased significantly. These findings highlight the need for ongoing public health efforts tailored to the changing spectrum of kidney diseases.

CONCLUSION: Electroencephalographic monitoring should be considered in the context of PRES, as it may help detect subclinical electrical activities in the brain, which is of potential therapeutic relevance.

CONCLUSIONS: Kidney outcomes were poor in genetic nephrotic syndrome; in FSGS outcomes were strongly associated with proteinuria level. Minimal change disease patients had better proteinuria control than FSGS and had better outcomes at each proteinuria level.

Focal segmental glomerulosclerosis (FSGS) is a leading cause of nephrotic syndrome, with an annual incidence of 24 cases per million among African-Americans and 5 per million among European-Americans in the United States. It ranks as the second most common glomerular disease in Europe and Latin America and the fifth in Asia. We conducted a case-control study involving 726 FSGS cases and 13,994 controls from diverse ethnic backgrounds, using panel sequencing of ∼2,500 podocyte-expressed genes....

CONCLUSIONS: Bayesian trial simulation was used to optimize the design of an adaptive RCT in childhood nephrotic syndrome, lowering estimated sample size. Adaptive designs can reduce barriers to conducting RCTs in rare pediatric diseases.

Mitochondrial diseases (MDs) are inherited metabolic disorders that affect multiple organ systems, including the kidneys. Variability in disease onset and phenotypic expression, combined with the absence of specific kidney pathological findings, pose significant challenges in diagnosing MD. Consequently, many undiagnosed cases of MD may exist among patients undergoing dialysis. No effective treatment for mitochondrial nephropathy has been established. We report the case of a 27-year-old female...

Objective: To investigate the impact of immunosuppressive therapy on the severity of SARS-CoV-2 infection and cytokine levels in pediatric patients with kidney diseases. Methods: A retrospective analysis was conducted on the clinical data of 40 hospitalized pediatric patients who were diagnosed with SARS-CoV-2 infection at the 900th Hospital of PLA Joint Logistic Support Force from December 2022 to February 2023. Based on their immunosuppressive status prior to SARS-CoV-2 infection, these...

Patients with nephrotic syndrome, particularly those with primary membranous nephropathy (pMN), are at a heightened risk of thromboembolic events. The presence of phospholipase A2 receptor (PLA2R) antibody serves as an indicator of active primary membranous nephropathy. Identifying high-risk patients for thromboembolic events is crucial for facilitating effective communication between healthcare providers and patients, evaluating treatment outcomes, and assessing medical costs. This study aimed...

Glomerular diseases associated with myeloproliferative neoplasms (MPN) are rare, and most often present with proteinuria and kidney impairment. Its natural history is not well described, although it has been associated with poor prognosis in described cases. Here, we present a case of MPN-related focal segmental glomerulosclerosis (FSGS) secondary to primary myelofibrosis (PMF) and describe its progression with transformation of PMF to leukaemia. A 52-year-old gentleman was referred for lower...

CONCLUSION: Obinutuzumab and ofatumumab are more effective than rituximab in treating patients with membranous nephropathy with anti-rituximab antibodies. Anti-rituximab antibodies should be systematically monitored, to determine appropriate treatment.

Minimal change disease (MCD) is a common cause of nephrotic syndrome, particularly in children, but it also affects adults, albeit in smaller proportions. MCD presents with edema, severe proteinuria, hypoalbuminemia, and hyperlipidemia. MCD can lead to secondary hypogammaglobulinemia and an increased risk of infections by causing increased loss of immunoglobulins in the urine, impaired IgG synthesis, and from the immunosuppressive therapies used to treat MCD. The mainstay treatment for MCD is...

Steroid-resistant nephrotic syndrome (SRNS) is the most severe form of nephrotic syndrome, with genetic or unidentified immunological origins and rapidly progressing to the need for kidney replacement therapy. Lipotoxicity can affect podocytes inducing kidney damage. In this study, we evaluate the effects of SRNS serum on podocyte functionality and lipid metabolism. A three-dimensional (3D) dynamic in vitro glomerulus was incubated with serum from multi-drug resistant (MDR) and genetic SRNS or...

CONCLUSIONS: The factors that impact decisions about IST initiation and discontinuation were consistent among pediatric and internal medicine nephrologists, namely advanced scarring and lower estimated glomerular filtration rate. We suggest that this information should be incorporated into patient management guidelines and clinical trial design.

CONCLUSION AND RECOMMENDATION: Administering two doses of RTX along with the standard dose of MMF has been effective in maintaining remission for children with SDNS/FRNS. B cell depletion can be achieved one week after the second dose of RTX treatment. NK cell proliferation may play a role in B cell depletion, and early B cell depletion may suppress the production of IgM. These findings require further validation through additional clinical trials and basic research.

The year 2024 marks significant progress in nephrology, particularly in immunoglobulin A (IgA) nephropathy and nephroprotection. In IgA nephropathy, new molecules such as sibeprenlimab and atacicept, targeting the BAFF and APRIL pathways, have shown a reduction in proteinuria and stabilization of glomerular filtration rate (GFR), confirming the importance of these pathways in the disease. Furthermore, the involvement of the microbiota in the pathology opens up promising therapeutic prospects. In...

CONCLUSION: We describe a rare case of Kartagener syndrome accompanied by glomerular disease and minimal change disease. The patient was treated symptomatically with antiinflammatory agents and will be monitored long term. We believe our findings will provide valuable guidance and reference for the treatment of such cases in the future.

There is a resurgence of interest in drug-induced membranous nephropathy due to the widespread availability of recently discovered culprit medications, such as lipoic acid supplements, mercury in skin lightening creams, and nonsteroidal anti-inflammatory drugs (NSAIDs) and the relationship between these drugs and newly described target antigens. The clinical syndromes associated with drug-induced membranous nephropathy are similar in that proteinuria ranges from low-grade to nephrotic-range and...

CONCLUSION: LEVA therapy resulted in a substantial reduction in the frequency of relapses and cumulative dosage, indicating its potential as an alternative option for children with relapsing disease.

Aim: This retrospective cohort study aims to evaluate the prognostic factors for progression of immunoglobulin A nephropathy (IgAN) to kidney failure (defined as the initiation of kidney replacement therapy or death) and all-cause mortality in an Australian population. Methods: We conducted a retrospective analysis of 363 individual patients with biopsy-proven IgAN over a 21-year period (2000-2020) in the Hunter Region of New South Wales. Demographic data, comorbidities, biopsy features and...

Proliferative glomerulonephritis with monoclonal immunoglobulin deposits is a form of monoclonal gammopathy of renal significance that can rarely co-occur with thrombotic microangiopathy (TMA). We report a rare case in a patient who presented with nephrotic syndrome, in whom the renal biopsy showed TMA and underlying granular electron-dense deposits predominantly along the subendothelial aspect of the glomerular basement membrane and mesangium. Immunofluorescence performed on proteinase-digested...

Diabetic kidney disease is a very prevalent complication in the context of type 2 diabetes. However, there is evidence showing a high variability in diagnosis when a kidney biopsy is performed. We present a case of a woman with a diagnosis of diabetic kidney disease, systemic arterial hypertension, obesity, and a high risk of progression of chronic kidney disease who presented with a sudden onset nephrotic syndrome and rapidly progressive deterioration of renal function. Kidney biopsy revealed...

CONCLUSIONS: Bilateral simultaneous native nephrectomy is a safe and effective way to manage conditions associated with end-stage renal disease in pediatric patients. In our experience, this can be done by an open or minimally invasive approach.

CONCLUSIONS: This unique case underscores the importance of early recognition and appropriate management of thromboembolic events in nephrotic syndrome. By presenting this case, we aim to alert clinicians to the possibility of mesenteric venous thrombosis, a rare but potentially serious complication. Such reports are crucial in informing more effective clinical decision-making and improving outcomes for nephrotic syndrome patients.

Osteopetrosis is a rare metabolic bone disease that can lead to progressive bone marrow failure if left untreated. Resulting cytopenia and extramedullary hematopoiesis are frequently encountered in autosomal recessive form of the disease (ARO) and may result in death. Recurrent bone fractures and skeletal deformities are mostly seen in autosomal dominant form osteopetrosis (ADO) and cause significant morbidity. In this report, clinical, laboratory, and radiological findings of 5 patients with...

Background/Objectives: Nephrotic syndrome, a glomerular disease caused by podocyte dysfunction, is characterized by proteinuria, hypoalbuminemia, edema, and hyperlipidemia. Current treatment relies on corticosteroids, which carry the risk of long-term side effects. Physalis angulata has potential as an adjunct therapy for immune-mediated kidney injury. This study aims to evaluate the effects of Physalis angulata extracts on anti-nephrin IgG, IL-4, and podocytopathy through BAFF inhibition in a...

CONCLUSIONS: High ω-6 arachidonic acid, ω-6/ω-3 ratio and low ω-3 ALA and ω-3 DHA were associated with elevated TG levels. An elevation in TG concentrations among pediatric patients with SSNS may have been implicated to MetS.

Minimal change disease (MCD) represents a significant cause of nephrotic syndrome in adults, traditionally managed with corticosteroids despite substantial relapse rates. This review critically evaluates the emerging role of rituximab (RTX) in adult MCD management, synthesizing current evidence across multiple clinical scenarios. Recent studies demonstrate RTX's multifaceted efficacy, particularly in new-onset cases and steroid-dependent/frequently relapsing patients, with the discovery of...

No abstract

The underlying molecular changes that result in minimal change disease (nephrotic syndrome) require an in-depth analysis. Current molecular studies have shown the involvement of zinc fingers and homeobox transcriptional factors in its pathogenesis. The application of therapeutic drugs relies on understanding the cascade of molecular events to determine their efficacy in managing the clinical condition.

The nephrotic syndrome (NS) is caused by increased glomerular permeability. We report a case of NS in a 3-year-old girl, complicated with central nervous system venous thrombosis. Physical examination revealed anasarca (edema, pleurisy, and ascites), intensely foaming urine. The lab tests showed severe, non-selective proteinuria, marked hypoproteinemia, dyslipidemia; also associated with abnormal thyroid panel due to urinary binding protein loss. Once the diagnosis was established and...

CONCLUSION: Routine nucleoporin gene testing is advised for Asian children with steroid-resistant nephrotic syndrome or end-stage kidney disease to prevent unnecessary treatments. While kidney transplantation has a favorable outlook, managing extrarenal symptoms of nucleoporin pehropathy is challenging.

A woman with biopsy-confirmed IgA nephropathy (IgAN) presented with persistent non-nephrotic range proteinuria and stage 3b chronic kidney disease (CKD). Her treatment regimen included the initiation of a sodium-glucose cotransporter 2 inhibitor (SGLT2i), dapagliflozin, starting at 5 mg daily and later titrated to 10 mg daily after several months. Following the dose increase, she developed significant acute-on-chronic kidney injury. Despite discontinuing the SGLT2i, her renal function did not...

CONCLUSIONS: This genetic-level investigation uncovers causal associations between immunophenotypes and PGDs, providing valuable insights into the immunological underpinnings of PGDs. Our findings suggest potential targets for treatment strategies, thereby facilitating more personalized and effective therapeutic approaches in PGDs management.

CONCLUSIONS: The presence of a wide range of diverse frequent-infrequent etiologies of congenital or acquired splanchnic vein thrombosis in this cohort underscores the necessity for the implementation of appropriate diagnostic strategies in a broad spectrum of at-risk patients.

CONCLUSIONS: This study provides insights into the distinct clinical and pathological characteristics of anti-GBM disease with MN. The identification of predictors may contribute to the early recognition and management of these patients.

Minimal change disease (MCD) is a common cause of idiopathic nephrotic syndrome (NS). MCD patients are complicated by acute kidney injury (AKI). Gastrointestinal disorders also occur during the course of NS; however, acute appendicitis after the development of NS has not been reported previously in patients with MCD. We report the case of a 54-year-old Japanese man with MCD who was diagnosed with acute appendicitis after developing NS. The patient visited a nearby medical clinic with abdominal...

Idiopathic nephrotic syndrome (INS) is the most common pediatric glomerular disease, characterized by proteinuria, hypoalbuminemia and edema and caused by an immune dysregulation of T and B cells. Fatty acids (FA) are involved in immune response, with omega-6 prevailing in pro-inflammatory states and omega-3 promoting anti-inflammatory effects. While previous studies of INS assessed FA profile in blood or serum, which may be influenced by many systemic and dietary factors, the intracellular FA...

Time to remission (TTR) has been largely considered one of the predictive factors for the risk of relapse and steroid dependency in childhood steroid-sensitive nephrotic syndrome, yet conflicting opinions exist. However, the factors influencing TTR have never been studied. We performed a post-hoc analysis of the prospective pediatric cohort enrolled in a previous multicenter study (ClinicalTrials.gov Id: NCT01386957) to evaluate the possible influence of some clinical and laboratory parameters...

CONCLUSIONS: Numerous preoperative factors have influence on the risk of VTE after TURBT. These findings might facilitate the clinical decision about the implementation of thromboprophylaxis in the appropriate patients.

The imbalance of the coagulation, anticoagulation, and fibrinolytic systems in patients with nephrotic syndrome makes them prone to thrombosis at multiple sites. This paper describes the imaging features of a case of NS complicated by a thrombus crossing the patent foramen ovale, providing a reference for clinical diagnosis and treatment.

CONCLUSION: MCD children who developed CNI resistance were susceptible to chronic CNI nephrotoxicity. Urinary NAG might be a valuable biomarker for CNI nephrotoxicity prediction in MCD children.

Primary membranous nephropathy is a common cause of adult-onset nephrotic syndrome, with an overall incidence of 12 cases per million per year. Primary membranous nephropathy is an autoimmune kidney disease; however, primary membranous nephropathy autoantigens remained elusive until 2009, when the M-type phospholipase A2 receptor 1 (PLA2R) was identified as a disease autoantigen. This was followed relatively rapidly by the identification of several other autoantigens. Autoantibodies against...

A 45-year-old man with a low titer of hepatitis B virus (HBV) was diagnosed with nephrotic syndrome. A subsequent test for human immunodeficiency virus (HIV) was positive. Kidney biopsy revealed some signs of collapsing variant of focal segmental glomerulosclerosis (FSGS), but the predominant finding was a cellular variant of FSGS. Two years after receiving tenofovir, urine protein became negative, and the patient was finally diagnosed with HIV-associated nephropathy. Collapsing variant of FSGS...

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...

Primary membranous nephropathy is a common cause of adult-onset nephrotic syndrome, with an overall incidence of 12 cases per million per year. Primary membranous nephropathy is an autoimmune kidney disease; however, primary membranous nephropathy autoantigens remained elusive until 2009 when the M-type phospholipase A2 receptor 1 (PLA2R) was identified as a disease autoantigen. This was followed relatively rapidly by identification of several other autoantigens. Autoantibodies against PLA2R are...

CONCLUSION: rs1464545187 is a risk locus for SSNSWR but not SDNS/FRNS in Chinese children. Functional variations in HLA-DQA1 and HLA-DQB1 are implicated in regulating the immune response of SSNS patients, which may explain the typical triggering of SDNS/FRNS onset by infections.

Gastrin-releasing peptide precursor (ProGRP) is a bioactive precursor of GRP and might play an important role as an emerging tumor marker in early cancer diagnosis. It might also be abnormal in the nonmalignant disease and renal function abnormalities. The present study was undertaken to investigate the changes of ProGRP levels in patients with kidney injuries, especially with chronic kidney disease (CKD), determine the upper reference intervals and clinical diagnostic value of ProGRP in CKD,...

CONCLUSION: Inherent differences between childhood IgAN and adult IgAN may be due to distinct disease mechanisms. Approaching childhood IgAN as a separate condition could lead to the discovery of targeted therapies and improve management during childhood and after the transition to adult care.

Thromboembolic events are among the most serious, yet rare complications of nephrotic syndrome. While peripheral venous thrombosis and pulmonary embolism are the most common, superior mesenteric artery thrombosis is a rare but life-threatening occurrence. We present a case of severe cytomegalovirus (CMV) infection complicated by congenital nephrotic syndrome, leading to mesenteric ischemia.

CONCLUSION: The CT severity score correlates well with disease severity and adverse outcomes in HFRS and can be assessed using noncontrast CT, making it a valuable prognostic tool in young male population. Further validation in diverse populations is warranted.

CONCLUSIONS: The overwhelming majority of children whose parents and providers used the Immunize PediatricTransplant app were up to date on vaccines at the time of transplant. The majority of app users felt the app was feasible and acceptable. In future iterations of the app and subsequent clinical trials, we will explore whether application programming interfaces might be used to extract vaccine data from the electronic medical record. If implemented broadly, this app has the potential to...

CONCLUSION: SARS-CoV- 2 infection in SCD and TDT/NTDT patients is mild and without higher mortality than the general population. The ERN-Eurobloodnet's registry collaborative structure exemplifies the power of international cooperation in tackling rare diseases, especially during health emergencies.

CONCLUSION: Despite strong commitment from European nephrologists, a fragmented legal framework, remaining barriers, and uneven case distribution hinder optimal care for migrant patients with kidney disease.

CONCLUSION: We conclude that de novo variants in potential novel CAKUT candidate genes contribute to the disease etiology and present SOX13 as a potential novel cause for CAKUT.

CONCLUSION: This study shows that most individuals with VACTERL association do not have known discrete genetic syndromes, implying that pathomechanisms or variants not identifiable by exome sequencing may exist requiring further investigation.

CONCLUSIONS: In conclusion, our study reveals multiple abnormal FC regions in asymptomatic ESHD patients, affecting visual-spatial processing, short-term memory, language, attention, and executive function. Altered FCs and their negative correlation with serum calcium levels highlight a potential link between metabolic disturbances and cognitive decline, suggesting new opportunities for targeted interventions in this vulnerable population.

Breastfeeding after kidney transplantation remains a complex and underexplored topic, primarily due to concerns regarding the safety of immunosuppressive therapies during lactation. Individuals who have received kidney transplants face a higher likelihood of delivering preterm infants and giving birth to babies with a low birth weight when compared with the general population. In this context, breastfeeding is increasingly important because of its advantages for preterm infants. Despite the...

CONCLUSIONS: The effects of prebiotics, erythropoietin-stimulating agents, immunosuppressive treatments, induction therapy of interleukin-2 receptor antagonist, exercise, nutrition, education, and surgical procedures on life participation-related outcomes were uncertain. Life participation was not reported as a specific outcome in trials in kidney transplant recipients with very limited evidence on interventions for life participation-related outcomes. Trial-based evidence for interventions to...

CONCLUSIONS: We propose a combination treatment of subcutaneous ofatumumab and intensive plasmapheresis, with CD19 and CD20 levels monitored regularly, might be safe and effective in rFSGS in KT patients.

CONCLUSION: SDB is prevalent in all stages of CKD in children, with greater severity in higher stages of CKD.

CONCLUSION: The most motivating factors for considering living donation were having a child recipient, helping someone in need, high transplant center success rate, and helping a family member or friend. The most discouraging factors were uncompensated expenses, difficulty of surgery recovery, risk of surgery, and length of recovery. Participants were less willing to donate to adults, strangers, and recipients with alcohol-related liver disease.

CONCLUSIONS: dd-cfDNA combined with standard of care improves the prediction of rejection in pKTRs. Further specific studies are needed to better define how to use this promising biomarker in various contexts of use in children.

Primary hyperoxaluria type 1 (PH1) is a rare inherited liver disorder caused by alanine glyoxylate aminotransferase (AGT) dysfunction, leading to accumulation of glyoxylate which is then converted into oxalate. Excessive oxalate results in kidney damage due to deposition of oxalate crystals. We have developed an mRNA-based protein replacement therapy for PH1 to restore normal glyoxylate to glycine metabolism. Sequence optimized human AGT mRNA (hAGT mRNA) was encapsulated in lipopolyplex (LPP)...

CONCLUSION: Peyronie's disease patients often have significant comorbidities. Treatment rates are low, with injections as the most used therapy. Surgical interventions are less common, with stable trends over time.

CONCLUSIONS: Although the overall BP of the population remained stable over time, individual patterns of BP management showed considerable variability. BP control improved significantly with intensified antihypertensive therapy; however, a significant number of previously normotensive individuals developed new-onset hypertension during the observation period.

CONCLUSION: Children with LVH have a lower level of Hb before KTx and a higher level of Hb increase in the early postoperative period following KTx. LVMI and changes in LVEF and LAEVI have predictive value in absence of Hb increase in pediatric KTx recipients.

CONCLUSIONS: Using the HOUSES index, we found significant socioeconomic disparities in preemptive kidney transplantation rates among children.

Pregnancy complicated by hemolytic uremic syndrome (HUS) and its variants presents significant challenges in obstetric care. Thrombotic microangiopathy (TMA), a key feature of HUS, involves microvascular thrombosis that can affect any organ, leading to thrombocytopenia, Coombs-negative hemolytic anemia, and organ dysfunction. The most common forms of thrombotic microangiopathies encountered in pregnant patients include hemolysis, elevated liver enzymes, and low platelet count (HELLP) syndrome,...

CONCLUSION: Allo-HSCT can be performed successfully in pediatric patients with severe septic shock requiring CRRT, offering a potentially life-saving option in urgent transplant situations. This case highlights that although HSPCs can be entrapped on AN69 membranes, engraftment was not compromised. Our findings provide novel insights into HSPC interactions with AN69 membranes during CRRT, and further studies are needed to quantify stem cell loss and explore its clinical implications.

CONCLUSION: Throughout the world, but especially in LMICs, there is a need to intensify strategies that allow for the more widespread application of TDM-MIPD to improve pharmacotherapeutic care for this highly vulnerable patient population.

CONCLUSIONS: Our study demonstrates that pediatric males may have a lower risk of acute rejection in liver, lung, and kidney transplant yet not in heart transplant. These findings may have implications for the level of maintenance immunosuppression for pediatric male transplant recipients.

Tuberculosis (TB), especially pulmonary tuberculosis (PTB), is a prevalent infectious disease affecting the respiratory system and is characterized by high morbidity, disability, and mortality rates that significantly impact the quality of life of patients and their families. Host genetic susceptibility plays a crucial role in the infection process of Mycobacterium tuberculosis (M. tuberculosis) with single nucleotide polymorphisms (SNPs) identified as key factors in the genetic loci associated...

CONCLUSIONS: We discuss the viability of the sequential liver-kidney transplant for patients with CED and suggest that physicians consider this sequence if their patients with CED present with corresponding sequential organ failure.

CONCLUSION: This phase 1 trial demonstrates the safety and feasibility of hbADM slings for female SUI treatment, with promising efficacy outcomes up to 3 years post-surgery. These results support further investigation of hbADM sling in larger, randomized controlled trials.

CONCLUSIONS: To our knowledge, this is the first report of a pediatric kidney transplant patient with tacrolimus toxicity secondary to NIM-RTV therapy utilizing phenytoin/fosphenytoin to induce tacrolimus metabolism and prevent further toxicity. Heightened awareness of this interaction is paramount to reduce allograft injury and promote patient safety.

CONCLUSION: Routine nucleoporin gene testing is advised for Asian children with steroid-resistant nephrotic syndrome or end-stage kidney disease to prevent unnecessary treatments. While kidney transplantation has a favorable outlook, managing extrarenal symptoms of nucleoporin pehropathy is challenging.

CONCLUSIONS: Recipients from neighborhoods with higher deprivation index have worse short- and long-term graft function, despite being younger, having lower estimated posttransplant survival scores, and similar graft kidney donor profile index at transplantation. This unexplained compromise in graft function is an opportunity for community-based interventions after recipients receive deceased donor kidney transplantation.

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: BKV nephropathy is a rare entity in NRSOT patients. This case highlights the successful management of refractory BKV nephropathy in a pediatric heart transplant recipient through bilateral native nephrectomy, leading to an extended period of viral clearance and subsequent LDKT. Further studies are needed to explore the broader applicability of this approach in NRSOT recipients.

Cardiovascular disease (CVD) is the leading cause of mortality in chronic kidney disease (CKD). However, the pathogenesis of CVD in CKD remains incompletely understood. Endothelial extracellular vesicles (EC-EVs) have previously been associated with CVD. We hypothesized that CKD alters EV release and cargo, subsequently promoting vascular remodelling. We recruited 94 children with CKD, including patients after kidney transplantation and healthy donors, and performed EV phenotyping and functional...

CONCLUSION: In lupus patients undergoing kidney transplantation, hepatitis B serology emerges as a potential singular predictor for graft failure, while preoperative lupus activity markers and recurrent lupus nephritis do not affect outcomes.

Kidney disease is a global health priority affecting over 850 million people worldwide. This number is projected to increase over the coming decades given the increasing prevalence of diabetes, hypertension and obesity, and the aging population. Chronic kidney disease can reduce both life-expectancy and quality of life and is intricately linked with cardiac and metabolic health - the cardio-kidney-metabolic multimorbidity syndrome. With early recognition of risk, chronic kidney disease can be...

CONCLUSION: Aboriginal and/or Torres Strait Islander people were under-reported in ANZDATA. There were multiple biases in characteristics and outcomes for people identified in ANZDATA compared with those identified by ERA using linked data. This highlights the importance of data integration as a quality improvement mechanism and identifying barriers to disclosure.

Solid organ transplantation (SOT) offers people with end-stage organ disease an increased quality of life, which includes the return of fertility and the potential for pregnancy. Although the number of pregnancies has increased, definitive recommendations have been lacking. To address reproductive health in SOT recipients, the American Society of Transplantation Women's Health Community of Practice held a virtual Controversies Conference with subject matter experts gathered to discuss topics of...

CONCLUSIONS: The present study suggests a moderate impact of hemoglobin and cholesterol on tacrolimus CL/F. Lower hemoglobin appears to increase CL/F, while higher cholesterol reduces it. These findings highlight the potential value of integrating biochemical parameters into dosing strategies to optimize TDM in pediatric kidney transplant recipients.

Transplantation is the standard treatment for end-stage kidney disease but carries with it a non-trivial risk of post-operative complication. There is a need for a continuous, real-time, not additionally invasive method of monitoring organ perfusion. We present an approach to allograft perfusion monitoring using a human kidney model using ex vivo normothermic perfusion (EVNP) and custom spectroscopic optical reflectance probes. Five discarded human kidneys underwent EVNP, spectroscopic...

CONCLUSION: A PKD-specific digital health educational and physical activity intervention is acceptable and has the potential to improve HRQoL. Further research is needed to better understand how specific education and lifestyle management may help to support self-management behaviour.

CONCLUSIONS: Broad collection of family history in the context of CKD improved clinical risk stratification. Family history of diabetes was consistently associated with a higher risk of CKD progression independently of diabetes status or polygenic risk score for diabetes in both cohorts.

CONCLUSIONS: The Dutch PKT prediction tool requires country-specific adaptations for use in other countries, given the diversity of clinical practice across Europe. A country-specific model is preferable to an international model in the current landscape.

BACKGROUND: Despite the well documented consequences of obesity during childhood and adolescence and future risks of excess body mass on non-communicable diseases in adulthood, coordinated global action on excess body mass in early life is still insufficient. Inconsistent measurement and reporting are a barrier to specific targets, resource allocation, and interventions. In this Article we report current estimates of overweight and obesity across childhood and adolescence, progress over time,...

CONCLUSIONS: There was no difference in graft loss from delivery in HTRs who developed preeclampsia during pregnancy. Regardless of preeclampsia, pregnant HTRs are more likely than the general population to experience severe maternal morbidity. These findings provide pertinent information for counseling heart transplant recipients who pursue pregnancy.

The human liver plays a central metabolic role; however, its physiology may become imbalanced in inborn errors of metabolism (IEM), a broad category of monogenic disorders. Liver transplantation has been increasingly used to improve patient metabolic control, especially in diseases related to amino acid metabolism, such as urea cycle disorders and organic acidurias, to provide enzyme replacement. Ex vivo liver normothermic machine perfusion (NMP) techniques have recently been developed to...

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Focal segmental glomerulosclerosis (FSGS) has become one the leading causes of kidney disease in the United States. With the incidence of FSGS rising over the past decade, capable treatment options have been a large focus in research. One therapy that shows promise is low density lipoprotein apheresis (LDL-A). This procedure removes lipoproteins containing apolipoprotein-B from the blood, thus reducing the lipid load on the renal system. LDL-A also improves responsiveness to the standard FSGS...

Clear cell renal cell carcinoma (ccRCC), despite having a low mutational burden, is considered immunogenic because it occasionally undergoes spontaneous regressions and often responds to immunotherapies. The signature lesion in ccRCC is inactivation of the VHL tumor suppressor gene and consequent upregulation of the HIF transcription factor. An earlier case report described a ccRCC patient who was cured by an allogeneic stem cell transplant and later found to have donor-derived T cells that...

CONCLUSIONS: Waitlist patients desired information and involvement in decision-making, yet individual prognoses were not fully understood. Integrating shared decision-making from pre- to post-offer will increase knowledge and enhance treatment satisfaction.

CONCLUSION: Our case provides proof of concept and feasibility for studying the Seraph 100 as a potential therapeutic option for the clearance of BK viral titers, especially in ESKD patients who already have dialysis access.

CONCLUSION: Males who lost their kidney allografts were more likely to choose HHD over PD compared to female patients. This sex disparity was more pronounced in individuals from socioeconomically disadvantaged areas.

Background/Objectives: Chronic kidney disease (CKD) influences different organs including the temporomandibular joint (TMJ). This study aims to identify structural and functional TMJ changes in children with CKD using ultrasound as the least invasive and most accessible method. Methods: TMJ changes were examined using ultrasound screening in 40 children. The first group (control, n = 10) included children with normal occlusion without TMJ complaints. The second group (n = 10) included children...

CONCLUSION: These data provide a clinical rationale for further evaluation of long-term treatment of C3G with iptacopan.

CONCLUSIONS: The spectrum of kidney disease has changed within the last 14 years. The relative frequency of MN and DN increased significantly, while that of HBVN decreased significantly. These findings highlight the need for ongoing public health efforts tailored to the changing spectrum of kidney diseases.

CONCLUSIONS: This genetic-level investigation uncovers causal associations between immunophenotypes and PGDs, providing valuable insights into the immunological underpinnings of PGDs. Our findings suggest potential targets for treatment strategies, thereby facilitating more personalized and effective therapeutic approaches in PGDs management.

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CONCLUSION: CTLA4-Ig ameliorated induction of experimental membranous nephropathy, potentially through suppression of Th17 cells in the kidney and may represent an effective adjunct treatment in membranous nephropathy.

Our review summarizes and evaluates the current state of knowledge on lipid metabolism in relation to the pathomechanisms of kidney disease with a focus on common pediatric kidney diseases. In addition, we discuss how nutrition in early childhood can alter kidney development and permanently shape kidney lipid and protein metabolism, which in turn affects kidney health and disease throughout life. Comprehensive integrated lipidomics and proteomics network analyses are becoming increasingly...

CONCLUSION: Genetically influenced plasma levels of PLA2R1 and NFKB1 impact MN risk, while FCGR3B and BTN3A1 levels are causally linked to IgAN risk, suggesting potential drug targets for further clinical exploration, notably BTN3A1 for IgAN.

Background: A renal biopsy is essential for the identification and management of renal disorders. Although considered an invasive operation, it is necessary for a definitive diagnosis and treatment of many renal diseases. The primary goal of this study was to assess the clinicopathological aspect of renal diseases undergoing biopsy in children receiving tertiary care.Patients and Methods: Children (≤18 years) hospitalized with nephrotic syndrome were the subjects of this cross-sectional study,...

Patients with nephrotic syndrome (NS) present with edema, proteinuria, hypoalbuminemia, and hyperlipidemia. In children, the most common causes are idiopathic minimal change disease and focal segmental glomerulosclerosis (FSGS). In adults, FSGS and membranous nephropathy (MN) are the most common primary causes. There are numerous secondary causes, including diabetes, amyloidosis, systemic lupus erythematosus, hematologic malignancies, and infections. In addition to confirming the diagnosis of NS...

DNASE1L3 is an extracellular nuclease that digests chromatin released from apoptotic cells. DNASE1L3 variants impair the enzyme function, enhance autoantibody production and type I interferon (IFN-I) responses, and cause different autosomal recessive phenotypes ranging from hypocomplementemic urticarial vasculitis syndrome to full-blown systemic lupus erythematosus (SLE). Kidney involvement in patients with DNASE1L3 variants is poorly characterized. Herein, we describe the clinical course of 3...

CONCLUSION: The pathological type of NS may be associated with specific malignancies in patients with PNS. Prompt identification of PNS coupled with suitable therapeutic intervention has a significant impact on the outcome for patients.

Treatment of glomerulonephritis presents several challenges, including limited therapeutic options, high costs, and potential adverse reactions. As a recognized Chinese patent medicine, Tripterygium wilfordii poly-glycosides (TWP) have shown promising benefits in managing autoimmune diseases. To evaluate clinical effectiveness and safety of TWP in treating glomerulonephritis, we systematically searched PubMed, Cochrane Library, Web of Science, and Embase databases for controlled studies...

CONCLUSIONS: In this study, circulating antinephrin autoantibodies were common in patients with minimal change disease or idiopathic nephrotic syndrome and appeared to be markers of disease activity. Their binding at the slit diaphragm induced podocyte dysfunction and nephrotic syndrome, which highlights their pathophysiological significance. (Funded by Deutsche Forschungsgemeinschaft and others.).

CONCLUSIONS: Cyclophosphamide can induce immunological remission earlier than rituximab at the span of 6 months. The PLA2R-CTLD1-IgG4 has a better predict value than total PLA2R-IgG for remission of proteinuria at the 6th month.

Recent progress in glomerular immune complex and complement-mediated diseases have refined diagnostic categories and informed mechanistic understanding of disease development in pediatric patients. Herein, we discuss selected advances in 3 categories. First, membranous nephropathy antigens are increasingly utilized to characterize disease in pediatric patients and include phospholipase A2 receptor (PLA2R), Semaphorin 3B (Sema3B), neural epidermal growth factor-like 1 (NELL1), and protocadherin...

Here, we used digital spatial profiling (DSP) to describe the glomerular transcriptomic signatures that may characterize the complex molecular mechanisms underlying progressive kidney disease in Alport syndrome, focal segmental glomerulosclerosis, and membranous nephropathy. Our results revealed significant transcriptional heterogeneity among diseased glomeruli, and this analysis showed that histologically similar glomeruli manifested different transcriptional profiles. Using glomerular...

CONCLUSION: The results of this study suggest a potential link between PCa and a higher risk of ED.

The deposition of antipodocyte autoantibodies in the glomerular subepithelial space induces primary membranous nephropathy (MN), the leading cause of nephrotic syndrome worldwide. Taking advantage of the glomerulus-on-a-chip system, we modeled human primary MN induced by anti-PLA2R antibodies. Here we show that exposure of primary human podocytes expressing PLA2R to MN serum results in IgG deposition and complement activation on their surface, leading to loss of the chip permselectivity to...

CONCLUSIONS: IHC PLA(2)R staining of glomerular tissue is a useful diagnostic marker of IMN. Though PLA(2)R prevalence is lower in children, its role in guiding treatment needs further exploration.

CONCLUSIONS: We confirm that changes better known in adults with either type 1 or type 2 diabetes mellitus can occur in children with type 1 diabetes mellitus: overt diabetic nephropathy either on its own or combined with other conditions and kidney disorders other than diabetic nephropathy.

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CONCLUSIONS: Most scored pathology features showed excellent reproducibility, demonstrating consistency for these features across multiple pathologists. Correlations between certain pathologic features and expected clinical characteristics show the value of this approach for future studies on clinicopathologic correlations and biomarker discovery.

CONCLUSION: Pegcetacoplan may provide therapeutic benefit for C3G and has a favorable safety profile across the 4 glomerular diseases studied.

Kidney function is strongly influenced by genetic factors with both monogenic and polygenic factors contributing to kidney function. Monogenic disorders with primarily autosomal dominant inheritance patterns account for 10% of adult and 50% of paediatric kidney diseases. However, kidney function is also a complex trait with polygenic architecture, where genetic factors interact with environment and lifestyle factors. Family studies suggest that kidney function has significant heritability at...

CONCLUSION: The Edema ClinRO (V1) measure is developed specifically to measure edema in nephrotic syndrome. The tool assesses edema across multiple body parts, and it includes a training module to ensure standardized administration across raters. Future examination of this measure is ongoing to establish its reliability and validity.

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CONCLUSIONS: PTGN has an important impact on long-term allograft survival. Significant challenges can be encountered when attempting to analyze large-scale data involving unstructured or complex data points, and the use of computational analysis can assist.

CONCLUSIONS: This study describes the distribution and changes in kidney biopsy diagnoses over 10 years in Japan and paves the way for future research on kidney diseases in adults and children.

The management of immunoglobulin A nephropathy, membranous nephropathy, lupus nephritis, anti-neutrophil cytoplasmic antibody-associated vasculitis, C3 glomerulonephritis, autoimmune podocytopathies and other immune-mediated glomerular disorders is focused on two major treatment goals, preventing overall mortality and the loss of kidney function. Since minimizing irreversible kidney damage best serves both goals, the management of immune-mediated kidney disorders must focus on the two central...

CONCLUSIONS: This study evaluates histomorphologic findings from kidney biopsies of pediatric recipients following allo-HSCT. Detailed evaluation of renal biopsy samples is helpful to elucidate the nature of renal insult, and may potentially identify treatable disease processes.

CONCLUSIONS: Computational image analysis enables quantification of the status of the kidney microvasculature and the discovery of a previously unrecognized PTC biomarker (aspect ratio) of clinical outcome.

CONCLUSION: Proteinuria and renal dysfunction were more common than expected and might indicate glomerulopathy and vascular lesions besides a tubulointerstitial injury in GS. Renal function may maintain stable with effective therapy in most cases.

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Hepatitis B-related glomerulonephritis (GN) is an uncommon but important cause of renal morbidity in children. While immunosuppressive therapy has been tried along with antivirals for treatment, some children may undergo spontaneous remission or achieve remission with antivirals alone. We retrospectively studied the outcomes of children with nephrotic syndrome (NS) and chronic hepatitis B infection treated at our nephrology clinic over a five years period; seven children were included of which...

Background and Objectives: Nephrotic syndrome (NS) is a kidney disease where the patient has a classic triad of signs and symptoms including hypercholesterolemia, hypoalbuminemia, proteinuria (>3.5 g/24 h), and peripheral edema. In case of NS, the damaged nephrons (structural and functional unit of the kidney) filter unwanted blood contents to make urine. Thus, the urine contains unwanted proteins (proteinuria) and blood cells (hematuria), while the bloodstream lacks enough protein albumin...

No abstract

Objective: To report the clinical features and genetic variations of monogenic lupus caused by DNASE1L3 deficiency and to introduce preliminary experience on diagnosis and treatment for this disease. Methods: Clinical data of 3 children from the same pedigree were collected who were diagnosed with DNASE1L3 defect-associated monogenic lupus in August 2020 by Department of Pediatrics, Peking Union Medical College Hospital referred from Department of Pediatrics, Boai Hospital of Zhongshan. DNA was...

CONCLUSIONS: Fracture risk, overall and by fracture site, varies by cause of end-stage kidney disease. Future work to determine underlying pathogenic mechanisms contributing to differential risks might inform more tailored treatment strategies. Our study was limited by lack of data regarding numerous potential confounders or mediators including medications and measures or bone biomarkers.

CONCLUSIONS: PLA2R domain-specific IgG/IgG4 TRFIAs were established in this study, and detection with anti-PLA2R IgG4 could more sensitively screen the reactivity of patients to the PLA2R domain. Moreover, detection epitope spreading of PLA2R was confirmed which is related to the severity of patients with PMN.

No abstract

The most extensively and well-investigated sequences in the human genome are protein-coding genes, while large numbers of non-coding sequences exist in the human body and are even more diverse with more potential roles than coding sequences. With the unveiling of non-coding RNA research, long-stranded non-coding RNAs (lncRNAs), a class of transcripts >200 nucleotides in length primarily expressed in the nucleus and rarely in the cytoplasm, have drawn our attention. LncRNAs are involved in...

CONCLUSIONS: We found that the patients in the RTX group and CTX group achieved effective remission of proteinuria after 12 months of treatment. PLA2R-IgG4 may be a more effective biomarker for treatment effectiveness analysis and prognostic assessment, compared with anti-PLA2R-IgG for PLA2R associated IMN.

Objective: To assess the correlation of glomerular C1q or IgA deposition with clinical and pathological features of primary membranous nephropathy (PMN) in children. Methods: The clinical and pathological manifestations including (phospholipase A2 receptor, PLA2R) and IgG subclasses staining in renal biopsies, serum anti-PLA2R antibody and therapeutic response of 33 children diagnosed with PMN in Peking University First Hospital from December 2012 to December 2020 were retrospectively summarized...

CONCLUSIONS: Kidney biopsy may be done during pregnancy when therapeutic decisions depend on a precise pathologic diagnosis.

CONCLUSIONS: While these data do not support an obvious role of the adaptive immune system T-cells in MCD pathogenesis, further study is warranted given the limited sample size. A higher resolution version of the Graphical abstract is available as Supplementary information.

CONCLUSIONS: There have been few reports of membranous nephropathy associated with ERT for PD. We clarified the cause in the current patient. Bortezomib and rituximab effectively suppressed anti-rhGAA antibody production resulting in the resolution of proteinuria and maintenance of ERT efficacy.

CONCLUSION: SOMAscan represents a promising proteomic platform for biomarker development in GN. Validation of a greater number of discovery biomarkers in larger patient cohorts is needed before these data can be translated for clinical care.

This study aimed to determine the percentage of anti-phospholipase A2 receptor (PLA2R) autoantibody positivity in a cross-section of 74 Pakistani patients with biopsy-proven idiopathic membranous nephropathy. It was an observational study conducted from December 2018 to June 2019. Seventy-four (n=74) consecutive biopsy-proven cases of membranous nephropathy, aged between 12-60 years, were included. Out of them, 63.5% (n=47) were males and 36.5% (n=27) were females. The mean age was 40.2±16.7...

CONCLUSION: In summary, we report a novel FOXP3 mutation (c.766A > G) with MN stage II in IPEX. In a literature review, MN is the most common pathological type in children with IPEX and proteinuria is the most prevalent clinical feature. IPEX should be considered in the differential diagnosis of MN patients with related endocrine diseases and immune disorders.

It is well established that mammalian kidney epithelial cells contain a single non-motile primary cilium (9 + 0 pattern). However, we noted the presence of multiple motile cilia with a central microtubular pair (9 + 2 pattern) in kidney biopsies of 11 patients with various kidney diseases, using transmission electron microscopy. Immunofluorescence staining revealed the expression of the motile cilia-specific markers Radial Spoke Head Protein 4 homolog A, Forkhead-box-protein J1 and Regulatory...

CONCLUSION: : Patients with pediatric AIHA showed relapse-free rapid hematological improvement and sustained steroid responses within 2 months, suggesting that systematic steroid treatment is feasible and highlighting the need for multicenter trials to establish standardized guidelines.

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.

细胞死亡是生命周期的重要组成部分，多种细胞死亡模式作用于机体的不同生命过程，细胞死亡失调即导致疾病的发生。儿童期系统性红斑狼疮作为一种自身免疫性疾病，其发病机制与细胞死亡模式密切相关，并受多种因素调控，如遗传因素、环境因素等。厘清细胞死亡模式在儿童期系统性红斑狼疮中的作用，如凋亡、坏死、焦亡、免疫原性细胞死亡、依赖性细胞死亡等与儿童期系统性红斑狼疮发病的关联性，可作为疾病诊疗提供新的思路。.

CONCLUSION: Findings support a dynamic model of resilience, shaped by a combination of socio-demographic, disease, personal, cultural and social factors. This improved understanding of resilience may help direct comprehensive care for cSLE youth and guide targeted interventions for youth at risk of poor outcomes.

CONCLUSION: In children with NLE, oral probiotics were associated with a reduced risk of AD, while double antibody positivity and systemic GC administration significantly increased the risk of AD within the first two years of life. However, the limited sample size in this study warrants further findings.

CONCLUSIONS: A "low"-quality evidence suggests that pSLE may adversely impact vascular microanatomy and physiology. Longitudinal studies are needed to precisely quantify the cardiovascular risk in pSLE.

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: Findings indicate that among Black women living with SLE, resilience to childhood adversity conferred worse physical health resulting from greater exposure to racial discrimination. Although educational attainment is traditionally conceptualized as protective for health, it may come with unintended physiological tolls for high-achieving Black women with SLE from disadvantaged backgrounds. Interventions aimed at "building resilience" without addressing underlying structural and social...

Systemic lupus erythematosus (SLE) is a chronic autoimmune disorder primarily affecting women during the reproductive years, often complicating pregnancy outcomes with elevated levels of neutrophil extracellular traps (NETs) infiltration. However, potential impacts of NETs on placental trophoblasts in SLE and the underlying molecular mechanisms remain unclear. To address this, transcriptome sequencing was conducted on placentas collected from seven pregnant women with SLE and six healthy...

CONCLUSION: Children with lupus serositis had higher disease activity, a higher prevalence of comorbidities, and mortality. Patients with both serositis, especially late-onset serositis, and ESRD had an increased risk of poor long-term survival.

CONCLUSIONS: This comprehensive analysis reveals significant changes in pediatric autoimmune disease incidence following the COVID-19 pandemic, suggesting potential associations between SARS-CoV-2 infection and autoimmune dysregulation. The diverse patterns observed across different conditions highlight the complex interplay between viral infection and autoimmunity, emphasizing the need for continued surveillance and investigation of long-term immunological consequences of COVID-19 in pediatric...

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: In lupus patients undergoing kidney transplantation, hepatitis B serology emerges as a potential singular predictor for graft failure, while preoperative lupus activity markers and recurrent lupus nephritis do not affect outcomes.

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.

Neonatal lupus erythematosus (NLE) is a rare autoimmune disorder characterized by cutaneous and/or cardiac manifestations resulting from the transplacental passage of maternal antibodies, including anti-SSA/Ro, anti-SSB/La, and occasionally anti-U1RNP. This report describes two siblings with distinct NLE presentations, emphasizing the importance of early diagnosis and management, particularly in light of the rising rates of multiple births. A 15-day-old girl (Case 1) presented with classic...

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.

CD72 inhibits the development of systemic lupus erythematosus (SLE) by suppressing TLR7-dependent B cell responses to self-nucleic acids (NAs). The absence of CD72 promotes the progression of lupus disease. Here, we find a highly activated subset of CD99^(-) CD72^(+) B cells (CD72^(+) BCs) expressing elevated levels of TLR7 in juvenile SLE, which contributes to autoimmunity. Through multi-omics integrated analysis of single-cell RNA sequencing(scRNA-seq) data and bulk RNA sequencing (RNA-seq)...

CONCLUSION: In light of the current data, the efficacy of TBS-1 as a biomarker in pSLE diverged from its performance in adult SLE. In summary, TBS-1 shows potential as a biomarker for pSLE, particularly in hematological manifestations. Further investigations are essential to delve into the immunomodulatory roles of TBS-1 in the autoimmune pathways of pSLE.

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...

CONCLUSIONS: Clinicians still tend to choose CYC over RTX in induction therapy of SLE and AAV and mostly prefer the high-dose CYC treatment regimen suggested by the NIH.

CONCLUSION: Epidemiologic investigations and clinical studies on NLE are currently inadequate, and large-scale epidemiologic investigations, prospective clinical studies, and basic research are needed in the future to improve the understanding of the disease and the standardization of its clinical management.

CONCLUSIONS: Fetal echocardiography should be performed in high-risk pregnancies between 16 weeks of gestation and 1 month after birth. Patients with NLE and CHB are prone to varying degrees of growth retardation. Pacemaker implantation is an effective treatment for children with CAVB. Key Points • CHB in patients with NLE is usually irreversible. • Patients with NLE and CHB are prone to varying degrees of growth retardation. • Implantation of a pacemaker is an effective treatment for children...

ObjectiveClassification criteria for systemic lupus erythematosus (SLE) are required to ensure consistency in enrolling patients into clinical trials. We aimed to evaluate the performance of the 2019 European League Against Rheumatism (EULAR)/American College of Rheumatology (ACR) criteria in patients with childhood-onset SLE (cSLE) by comparing its sensitivity and specificity with the 1997 ACR and the 2012 Systemic Lupus International Collaborating Clinics (SLICC) criteria.MethodsOur study...

The Hypoprothrombinemia-Lupus Anticoagulant Syndrome (HLAS) is a rare coagulation disorder, typically presenting with bleeding manifestations. It is characterized by decreased prothrombin activity and the presence of lupus anticoagulant, but laboratory findings are complex, which can delay diagnosis and treatment. This report describes the diagnosis and management of a HLAS patient who was an 11-year-old girl with recurrent bleeding. Coagulation tests revealed prolonged APTT and PT, decreased...

CONCLUSION: There is a significant correlation between MPA-AUC(0-12)(h) and treatment response in pediatric LN patients receiving multi-target therapy; therefore, it is recommended that MMF dosing be adjusted according to individual MPA-AUC(0-12)(h) levels.

Ethosuximide-associated aplastic anemia (AA) is a rare idiosyncratic disorder with unclear etiology. We report a 17-year-old female with absence seizures on ethosuximide, who was incidentally found to have pancytopenia and a markedly hypocellular marrow (<5% cellularity) with lupus erythematosus (LE) cells. The presence of antinuclear and anti-histone antibodies supported a diagnosis of AA secondary to drug-induced lupus erythematosus. Ethosuximide was discontinued, and prednisone started with...

CONCLUSIONS: Among Korean patients with SLE, SLE-related conditions were the leading causes of mortality. However, CVD and cancer were also identified as the main causes of mortality. Furthermore, pulmonary manifestations were significantly associated with SLE-related mortality.

This study characterized the risk and characteristics of tumor necrosis factor-α (TNF-α) inhibitors-induced systemic lupus erythematosus (SLE) in a mass medication population based on the FAERS database. Using the Standardized MedDRA Query (SMQ), adverse drug reaction (ADR) reports related to SLE of infliximab, adalimumab, etanercept, golimumab, and certolizumab pegol were collected from the FAERS database starting from the data retrieval quarter up to the fourth quarter of 2023. Signal...

Kikuchi-Fujimoto disease (KFD) is a rare condition characterized by necrotizing lymphadenitis and fever, often associated with immune dysregulation. Histologically, it features necrotic foci with abundant histiocytes and plasmacytoid dendritic cells but notably lacks neutrophils and eosinophils. Recent evidence reveals a notable prevalence among pediatric patients, who may exhibit distinct features compared to adults. We reported the case of an 11-year-old girl presenting with persistent fever,...

Clinical diagnosis typically incorporates physical examination, patient history, various laboratory tests, and imaging studies but makes limited use of the human immune system's own record of antigen exposures encoded by receptors on B cells and T cells. We analyzed immune receptor datasets from 593 individuals to develop MAchine Learning for Immunological Diagnosis, an interpretive framework to screen for multiple illnesses simultaneously or precisely test for one condition. This approach...

Pathologic T cell-B cell interactions drive disease in systemic lupus erythematosus (SLE). The T cells that activate B cell responses include T peripheral helper (Tph) and T follicular helper (Tfh) cells, yet the developmental and clonal relationships between these B cell-helper T cell populations are unclear. Here we use T cell receptor (TCR) profiling to demonstrate clonal overlap between Tph and Tfh cells in the circulation of patients with SLE. Expanded Tph and Tfh cell clones persist over...

Juvenile-onset systemic lupus erythematosus (JLES) is an autoimmune disease of unknown aetiology. It is more common in girls but can occur in boys. Its onset at an early age is more severe, causing potentially fatal damage if not treated early. It is a polymorphous condition, misleading at first and little known in our African populations. We report a case of 12 years of misdiagnosis in a 17-year-old boy living in a semi-rural environment. This case illustrates the shortage of paediatric...

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Lupus nephritis (LN), present in 30%-50% of systemic lupus erythematosus (SLE) patients, often necessitates standard immunosuppressive therapy (glucocorticoids, MMF, CYC) as suggested by the European League Against Rheumatism/European Renal Association-European Dialysis and Transplant Association (EULAR/ERA-EDTA) and Kidney Disease Improving Global Outcomes (KDIGO) guidelines. However, a subset of subjects remains refractory. Recent findings suggested the efficacy of targeting CD38-long-lived...

CONCLUSIONS: These results suggest that depression and anxiety are prevalent in cSLE and have negative impacts on HRQOL and family. Physicians should be aware of the presence of these psychological symptoms, particularly in patients with risk factors. Providing psychological counseling and prompt referral to psychiatrists could enhance HRQOL and family functioning.

The immune system relies on carefully calibrated cellular machineries to enable distinction between endogenous and foreign molecules, with autoimmunity arising when this balance is disrupted. As potent autoantibody factories, B cells are major drivers of many autoimmune diseases. A significant fraction of patients affected by chronic autoimmune diseases such as systemic lupus erythematosus (SLE) exhibit pathogenic accumulation of B-cell subsets that are believed to be derived from the...

CONCLUSION: This study demonstrates that the autoimmune disease-causal NCF1 variant is associated with a protective effect against TB infection.

CONCLUSIONS: This study validates novel paediatric-specific targets, demonstrating that achieving cLLDAS, cCR, and cCR-0 reduce risks of new damage and severe flare, which is comparable to aSLE targets. Using cSLE-specific targets prevents misclassification of disease activity in paediatric patients, enabling more accurate disease control assessments in younger, lighter patients.

CONCLUSION: Our findings indicate that the polymorphisms IL17RA rs2895332, IL23R rs10889677, and FCGR3A rs396991 are significantly associated with the risk of NPSLE in childhood-onset LN.

CONCLUSION: Whereas most participants were successfully engaging in higher education, their performance was often negatively affected by the physical and cognitive toll of SLE. Social support and academic accommodations helped to alleviate the challenges experienced by this group. Going forward, clinicians should initiate conversations about the educational experiences of young adults with SLE to proactively address the challenges they may face.

CONCLUSIONS: This is the first study to explore experiences of providers caring for children with JDM in Africa. Respondents identified 216 children with JDM seen within the last 10 years, exceeding the 196 children with JDM reported within the last 25 years but likely still underestimating prevalence. Our findings align with reports of severe manifestations and poor outcomes in African children with JDM. Access to many diagnostics and medications is limited, and differences in accessibility...

CONCLUSIONS: The concurrence of anorexia nervosa with SLE and the complete resolution of anorexia nervosa symptoms with immunosuppressive therapy suggest common autoinflammatory pathogenesis for both conditions. Further research is needed to elucidate any potential association between SLE and anorexia nervosa.

Objective: To identify clusters of autoantibodies in a large cSLE population and to verify possible associations between different autoantibody clusters and the following variables: demographic data, cumulative clinical and laboratory manifestations, disease activity, cumulative damage and mortality. Methods: A cross-sectional study was performed in 27 Pediatric Rheumatology University centers, including 912 cSLE patients. The frequencies of seven selected autoantibodies (anti-dsDNA,...

CONCLUSIONS: There is a high prevalence of neuropsychiatric manifestations associated with SLE and pSD. The variety of physiopathology pathways may explain the variety of symptoms, however pathological findings are rare. Multicenter studies on attribution protocols and treatment are necessary to address the current gaps.

CONCLUSION: The study highlights the clinical characteristics and challenges associated with SPENCD. The findings underscore the need for comprehensive management strategies to address the multifaceted complications associated with SPENCD.

CONCLUSION: Automated reminders did not improve adherence to HCQ for children with pSLE, although the ability to detect effect was limited by a high baseline adherence and small sample size. Post hoc analyses identified different adherence patterns and a subgroup of patients with low HCQ concentrations who could be targeted for future adherence interventions.

Monogenic lupus is an extremely rare clinical condition in children. Defects in the complement pathway are the most common causes of monogenic lupus. C1qC deficiency is one of the defects in this pathway and is even rarer. Herein, we present two cases of monogenic lupus diagnosed with C1qC deficiency in siblings. In addition, a literature search was conducted for articles on monogenic lupus due to C1qC deficiency. We found 14 articles. Our literature search identified 17 paediatric patients with...

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Pseudohypoparathyroidism type 1B (PHP1B) is a multihormone resistance disorder caused by aberrant GNAS methylation. Characteristic epigenetic changes at GNAS differentially methylated regions (DMRs), i.e., NESP, AS1, AS2, XL, and A/B, are associated with specific structural defects in different autosomal dominant PHP1B (AD-PHP1B) subtypes. However, mechanisms underlying abnormal GNAS methylation remain incompletely defined, largely because viable PHP1B mouse models are lacking. Using...

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INTRODUCTION: There have been previous initiatives to identify key performance indicators (KPIs) for continuous kidney replacement therapy. However, no formal reviews of the evidence for KPIs of intermittent kidney replacement therapy (IKRT) have been conducted. This systematic review will appraise the evidence for KPIs of IKRT in critically ill patients and is part of the DIALYZING WISELY (NCT05186636) programme which aims to improve the performance of acute renal replacement therapy in...

Idiopathic nephrotic syndrome (NS) is associated with immune dysfunction and increased susceptibility to infections. Oral health may influence systemic inflammation and disease progression. This study aimed to evaluate the salivary levels of interleukin-6 (IL-6) and interleukin-18 (IL-18) in children with NS and their association with dental health, particularly caries prevalence and the consequences of untreated caries. A cross-sectional study was conducted on 86 children aged 5-17 years,...

Continuous renal replacement (CRRT) therapies are a valuable addition to the dialytic armamentarium, and that, through gentler fluid removal and solute clearance, are better tolerated in critically ill children who are in need of dialysis. CRRT is technically demanding and resource intensive, and its use can be associated with many complications. There are many different modalities of CRRT, each of which employ varying combinations of convective and diffuse solute removal and ultrafiltration....

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PURPOSE: An international working group (IWG) consisting of experts in X-linked hypophosphatemia (XLH) developed global guidelines providing a comprehensive, evidence-based approach to XLH diagnosis, management, and monitoring.

CONCLUSION: NE demonstrated slight effects on children with NE and their parents or guardians. In the children, NE most affected their self-confidence, and in the parents and guardians, NE increased the burden of housework. In managing NE, physicians should evaluate its adverse effects on children and their parents or guardians.

CONCLUSIONS: Nrf2 activators induced nuclear translocation and activation of Nrf2, resulting in upregulation of ARE-dependent genes. Although the function of Nrf2 in children is often unknown, this study may lead to future progress in oxidation and antioxidant function in children.

Gastrointestinal (GI) cancers, which predominantly manifest in the stomach, colorectum, liver, esophagus, and pancreas, accounting for approximately 35% of global cancer-related mortality. The advent of liquid biopsy has introduced a pivotal diagnostic modality for the early identification of premalignant GI lesions and incipient cancers. This non-invasive technique not only facilitates prompt therapeutic intervention, but also serves as a critical adjunct in prognosticating the likelihood of...

Chemoresistance and immune evasion remain significant barriers to effective esophageal cancer (EC) treatment. This study explores the mechanistic role of extracellular vesicles (EVs) delivering LncRNA HOTAIR in modulating these processes. Using transcriptomic profiling, LncRNA HOTAIR was identified as a critical factor in EC progression. Its interaction with miR-375 was examined via luciferase reporter assays and RNA immunoprecipitation. Paclitaxel-resistant EC cells were treated with EVs...

CONCLUSION: Curcumol ameliorates the progression of DR by modulating the FTO/MAFG-AS1 axis, providing a novel therapeutic pathway for the treatment of DR. These findings suggest that curcumol-based therapies could offer a promising alternative for managing this debilitating complication of diabetes.

Objective: To analyze the clinical characteristics of renal abscess in children and provide suggestions for early diagnosis and treatment. Methods: The clinical data including general information, laboratory data, imaging results, treatment and prognosis of 20 pediatric patients with renal abscess admitted to the Department of Nephrology, Capital Center for Children's Health Capital Medical University were analyzed retrospectively. Results: A total of 8 males and 12 females were enrolled. The...

CONCLUSIONS: Critically ill term and late preterm infants with AKI have an increased risk of long-term kidney dysfunction and merit evaluation at NICU discharge with subsequent comprehensive kidney health assessments based on risk factors. Current research gaps and opportunities for improved care include identifying optimal pre-discharge planning approaches, examining the impacts of different etiologies and severity of AKI on long-term kidney and overall health, exploring modification to current...

CONCLUSION: Despite strong commitment from European nephrologists, a fragmented legal framework, remaining barriers, and uneven case distribution hinder optimal care for migrant patients with kidney disease.

CONCLUSIONS: Although hospitalisations for pneumonia and prescriptions for anti-asthma drugs increased immediately after downgrading COVID-19, no step increase in mortality was observed presumably because older people were less affected than children.

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CONCLUSION: Tofacitinib could be an effective therapeutic option for BS patients who demonstrate resistance to TNF-α inhibitors or corticosteroids. Specifically, the STAT3 rs2293152 GG polymorphism was associated with improved response to treatment, suggesting a genotype-influenced therapeutic efficacy.

CONCLUSION: PAX2 variants exhibit significant clinical diversity, and our findings further expand the genotype-phenotype spectrum of PAX2-related disorder. The variable efficacy of ACEIs highlights the importance of personalized evaluation and treatment strategies and extended follow-up periods in the future.

We report on a 3-year and 5-month-old boy who was referred for suspected rickets, due to knee valgus deformity developed over the previous year. The child had a history of epilepsy well-controlled with phenobarbital. His psychomotor development and growth metrics were appropriate for his age. On admission, laboratory work-up revealed elevated alkaline phosphatase (1289 U/L) and parathyroid hormone (PTH) (417 pg/ml), normal corrected calcium (9,3 mg/dl) and creatinine (0,21 mg/dl), low phosphate...

Technological advances such as next-generation sequencing (NGS) have enabled high-throughput assessment of the human genome, supporting the usage of genetic testing as a first-line tool across clinical medicine. Although individually rare, genetic causes account for end-stage renal disease in 10% to 15% of adults and 70% of children, and in many of these individuals, genetic testing can identify a specific etiology and meaningfully impact management. However, with numerous options for genetic...

CONCLUSION: Turkish children with NE had a significantly lower HRQoL score compared with children without NE. All the domain scores were also significantly lower in children with NE compared with the control subjects.

RATIONALE: Atypical hemolytic uremic syndrome (aHUS) is a severe rare disease characterized by microvascular hemolytic anemia, thrombocytopenia, and acute renal failure.

Steroid-resistant nephrotic syndrome (SRNS) is the most severe form of nephrotic syndrome, with genetic or unidentified immunological origins and rapidly progressing to the need for kidney replacement therapy. Lipotoxicity can affect podocytes inducing kidney damage. In this study, we evaluate the effects of SRNS serum on podocyte functionality and lipid metabolism. A three-dimensional (3D) dynamic in vitro glomerulus was incubated with serum from multi-drug resistant (MDR) and genetic SRNS or...

CONCLUSION: This research provides an overview of telesurgery research findings, encompassing the evolution of research priorities in telesurgery. The study anticipates that the secure implementation and broader adoption of telesurgery will bring more benefits to patients on a global scale.

CONCLUSION: We conclude that de novo variants in potential novel CAKUT candidate genes contribute to the disease etiology and present SOX13 as a potential novel cause for CAKUT.

CONCLUSIONS: People with kidney failure face a high burden of cancer, particularly after kidney transplantation. Understanding the epidemiology of cancer in the kidney failure population is crucial for shaping health policies.

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...

CONCLUSION: The combination of EEG and NSE is valuable for the differential diagnosis of febrile seizures and offers strong predictive power for brain function prognosis. Their combined detection enhances diagnostic accuracy and offers substantial practical benefits.

Steroid-resistant nephrotic syndrome (SRNS) is a highly heterogenic kidney disorder resulting from genetic abnormalities or immune system dysfunction affecting the establishment and maintenance of the glomerular filtration barrier. The most common cause of genetic SRNS is biallelic pathogenic variants in NPHS2 gene, especially in individuals with an infantile or childhood onset. The type of the NPHS2 defect implies the course of the disease and the stage of its onset and differs across...

Minimal change disease (MCD) is a common cause of nephrotic syndrome, particularly in children, but it also affects adults, albeit in smaller proportions. MCD presents with edema, severe proteinuria, hypoalbuminemia, and hyperlipidemia. MCD can lead to secondary hypogammaglobulinemia and an increased risk of infections by causing increased loss of immunoglobulins in the urine, impaired IgG synthesis, and from the immunosuppressive therapies used to treat MCD. The mainstay treatment for MCD is...

CONCLUSIONS: In conclusion, our study reveals multiple abnormal FC regions in asymptomatic ESHD patients, affecting visual-spatial processing, short-term memory, language, attention, and executive function. Altered FCs and their negative correlation with serum calcium levels highlight a potential link between metabolic disturbances and cognitive decline, suggesting new opportunities for targeted interventions in this vulnerable population.

BACKGROUND: Six to nine per cent of all newborn infants require admission to a neonatal intensive care unit (NICU) due to either illness or prematurity. During their stay, these infants are often subjected to many painful procedures that can cause negative long-term consequences. To reduce the negative effects of pain exposure and ensure optimal and safe pain treatment, accurate assessment of pain is necessary. To achieve this, clinicians are dependent on the use of reliable, objective, and...

Acute kidney injury in children is associated with adverse outcomes. These include longer hospital stays, increased mortality, and nonrecovery of kidney function in the short term and increased health care utilization, new onset hypertension, and chronic kidney disease in the long term. Systematic post acute kidney injury care may help mitigate some of the complications that follow acute kidney injury. Patient, family, and health care team education is a key aspect of post acute kidney injury...

CONCLUSION: Effective implementation of FCC interventions requires careful planning and needs assessment. It ensures management support, regular staff training, family orientation, and a continuous feedback loop. Incorporating FCC principles and delivering culturally acceptable interventions is key while acknowledging possible barriers and utilizing available facilitators. FCC interventions can help foster a healthcare culture that values partnerships with families and can transform the neonatal...

Postpartum depression (PPD) is a severe mental health condition that affects women following childbirth and is marked by persistent sadness, anxiety, fatigue, and difficulty functioning. Unlike the temporary "baby blues", PPD is more severe and long-lasting, potentially leading to negative consequences for mother and child. Globally, PPD impacts approximately 10-20% of postpartum women, with prevalence influenced by genetic, hormonal, psychological, and socio-environmental factors. Early...

CONCLUSION: Streptococcal infections may aggravate renal damage in children with Henoch-Schönlein purpura nephritis, in which hypocomplementemia, inflammation, fibrinolysis and disorders of coagulation perhaps play an important role. Children with streptococcal infection should be treated with anti-infective treatment in time and necessarily, and followed up after discharge regularly.

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CONCLUSION: APA improves endurance and physical capacity in children with OI. Multidisciplinary care and further research are needed to enhance long-term outcomes.

CONCLUSIONS: We propose a combination treatment of subcutaneous ofatumumab and intensive plasmapheresis, with CD19 and CD20 levels monitored regularly, might be safe and effective in rFSGS in KT patients.

Beyond the stenosis degree, the carotid plaque morphology assessed by computed tomography may improve the stroke risk stratification and is recommended to be considered before interventional treatment according to current guidelines. This study aimed to systematically review the accuracy of computed tomography (CT) to detect carotid plaque characteristics compared to histology in patients with symptomatic and asymptomatic carotid plaques. We registered the protocol in PROSPERO and searched...

Introduction Transplant renal artery stenosis (TRAS) is a potentially treatable posttransplant complication, primarily presenting with arterial hypertension and allograft dysfunction. Its prevalence in children with posttransplant hypertension ranges from 5% to 15%. Diagnosis is typically made through invasive angiography following suspicion raised by echo Doppler findings. Treatment options include medical therapy, percutaneous transluminal angioplasty (PTA)/stenting, and surgical...

CONCLUSION: SDB is prevalent in all stages of CKD in children, with greater severity in higher stages of CKD.

CONCLUSIONS: Clinicians should optimize medication plans by considering the child's weight, BSA, ALT, AST, PLT, ALB, and relevant factors. These findings may serve as a valuable resource for clinicians.

Autosomal recessive polycystic kidney disease is one of the most prevalent inherited cystic kidney diseases in infants and children, common in highly consanguineous societies such as Oman. Karyomegalic interstitial nephritis is a rare cause of hereditary chronic kidney disease presenting with progressive renal impairment and hematoproteinuria. We report a rare case of concurrent karyomegalic interstitial nephritis and autosomal recessive polycystic kidney disease in a two-year-old Omani boy. He...

CONCLUSIONS: The factors that impact decisions about IST initiation and discontinuation were consistent among pediatric and internal medicine nephrologists, namely advanced scarring and lower estimated glomerular filtration rate. We suggest that this information should be incorporated into patient management guidelines and clinical trial design.

Obesity is a major public health crisis associated with high mortality rates. Previous genome-wide association studies (GWAS) investigating body mass index (BMI) have largely relied on imputed data from European individuals. This study leveraged whole-genome sequencing (WGS) data from 88,873 participants from the Trans-Omics for Precision Medicine (TOPMed) Program, of which 51% were of non-European population groups. We discovered 18 BMI-associated signals (P < 5 × 10^(-)⁹), including two...

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.

CONCLUSIONS: To our knowledge, this is the first report of a pediatric kidney transplant patient with tacrolimus toxicity secondary to NIM-RTV therapy utilizing phenytoin/fosphenytoin to induce tacrolimus metabolism and prevent further toxicity. Heightened awareness of this interaction is paramount to reduce allograft injury and promote patient safety.

Background/Objectives: The prevalence of chronic kidney disease (CKD) is increasing worldwide, and this tendency is also visible in pediatric patients. The major clinical challenge is to achieve a diagnosis as early as possible, despite an overt clinical course, especially in the early stages of the disease. Unfavorable external conditions may disturb the proper treatment of chronically ill patients and delay the time of diagnosis. The recent COVID-19 pandemia might have altered the usual...

In a subset of children and adolescents, SARS-CoV-2 infection induces a severe acute hyperinflammatory shock¹ termed multisystem inflammatory syndrome in children (MIS-C) at four to eight weeks after infection. MIS-C is characterized by a specific T cell expansion² and systemic hyperinflammation³. The pathogenesis of MIS-C remains largely unknown. Here we show that acute MIS-C is characterized by impaired reactivation of virus-reactive memory T cells, which depends on increased serum levels of...

CONCLUSIONS: CDS improved influenza vaccination rates in hospitalized children. However, decreased rates over time may indicate waning CDS effectiveness or external factors such as COVID-19, as well as increased vaccine hesitancy.

Aim During pandemic periods, psychogenic assessment and precautions are critical for patients requiring hospitalization. This study investigates the factors influencing anxiety levels in patients hospitalized for coronavirus disease 2019 (COVID-19) and analyzes the impact of demographic, social, and medical variables on anxiety and depression levels. Methods The research involved 150 female and 180 male patients hospitalized and treated in the adult pandemic service of a tertiary referral center...

Laboratory testing has played a pivotal role throughout the coronavirus disease 2019 (COVID-19) pandemic, exemplifying the importance of in vitro diagnostics in addressing public health threats posed by outbreaks of infectious diseases. This article aims to present key insights from our expertise, derived from evidence gathered during the COVID-19 pandemic, to inform strategies for managing future infectious challenges. Current scientific evidence underscores that patient sample testing not only...

AXL, a member of the TAM receptor family, has emerged as a potential target for advanced-stage human malignancies. It is frequently overexpressed in different cancers and plays a significant role in various tumor-promoting pathways, including cancer cell proliferation, invasion, metastasis, epithelial-mesenchymal transition (EMT), angiogenesis, stemness, DNA damage response, acquired therapeutic resistance, immunosuppression, and inflammatory responses. Beyond oncology, AXL also facilitates...

CONCLUSION: Our findings indicate that preventing and mitigating long-COVID remains a public health priority. Examining temporal patterns and risk factors of long-COVID incidence informs our understanding of etiology and can improve prevention and management.

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...

CONCLUSION: COVID-19 infection and vaccination are a potential trigger for onset or relapse of aHUS and TTP, especially in patients who are not on maintenance complement inhibitors or immunosuppression.

CONCLUSION: Globally, leukaemias were the most prevalent and myeloid neoplasms were the least prevalent blood cancer types in children who developed SARS-CoV-2 infection. Children with blood cancer infected with SARS-CoV-2 may experience higher rates of ICU admission and mortality in comparison with the healthy pediatric populations. Mortality in children with blood cancer and infected with SARS-CoV-2 was highest in cases belonging to male gender and Hispanic ethnicity. However, children with...

Background/Objectives: Gestational diabetes mellitus (GDM) can lead to various complications for both the mother and the child. Many factors influence the onset of the disease including GDM in a previous pregnancy, overweight and obesity, as well as the increasing age of women who become pregnant. The aim of this study was to assess the impact of telemedicine during the COVID-19 pandemic on diabetes management and pregnancy outcomes in women with gestational diabetes mellitus (GDM). Methods: A...

CONCLUSIONS: Pediatric patients with rheumatic diseases exhibited a wide range of clinical symptoms after COVID-19 infection. The infection generally did not lead to severe outcomes in this study. COVID-19 vaccination was associated with reduced hospitalization risk and expediting the time to negativity for virus.

CONCLUSIONS: Delirium and subsequent NCD are not more frequent in COVID-19 as compared to SARS-CoV-2 negative patients with acute respiratory tract infections. Consistently, biomarker levels of brain injury indicated no differences between COVID-19 cases and SARS-CoV-2 negative controls. Our data suggest that delirium in COVID-19 does not distinctly trigger substantial and persistent subsequent NCD compared to patients with other acute respiratory tract infections.

CONCLUSIONS: Severe acute COVID-19 in children leads to a higher PPCC prevalence than in mild cases. PPCC prevalence decreases over time. Risk factors at three months include prior medical history, hospital admission, and persistent fatigue one month after a positive test.

CONCLUSION: Patients with cSLE showed robust humoral but compromised cellular immune responses to the COVID-19 mRNA vaccine, associated with lower lymphocyte counts. These findings highlight the need for further research to enhance vaccine efficacy in this vulnerable group.

During the COVID-19 pandemic, Taiwan's pediatric healthcare system faced its most severe shortage of pediatric residents in history. This review investigates the causes, consequences, and potential solutions to this shortage. Between 2020 and 2023, the recruitment rate of pediatric residents dropped by 27.3%, increasing workloads for attending pediatricians and may worsening health outcomes for pediatric patients. Compared to South Korea and Japan, Taiwan has the highest neonatal mortality rates...

The development of the human immune system lasts for several years after birth. The impact of this maturation phase on the quality of adaptive immunity and the acquisition of immunological memory after infection at a young age remains incompletely defined. Here, using an antigen-reactive T cell (ARTE) assay and multidimensional flow cytometry, we profiled circulating severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2)-reactive CD3^(+)CD4^(+)CD154^(+) T cells in children and adults...

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The complement system is a set of over 50 proteins that constitutes an essential part of the innate immune system. Complement system activation involves an organized proteolytic cascade. Overactivation of complement system activation is the main pathogenic mechanism of several diseases and contributes to the manifestations of many other conditions. This review describes the normal complement system and the role for complement dysregulation in critical illnesses, notably sepsis and acute...

CONCLUSIONS: Sufficient attention should still be given to children with immunodeficiency after the COVID-19 pandemic, such as CKD, to avoid infection of deadly. Secondly, the government should vigorously develop Primary medical institutions to ensure efficient treatment of severe patients in tertiary hospitals; Finally, the professional literacy of medical workers in remote diagnosis and treatment should be improved to enhance the country's emergency response capacity for similar major public...

BACKGROUND: Measles is a highly contagious cause of febrile illness typically seen in young children. It is transmitted primarily through respiratory droplets and small-particle aerosols and can remain viable in the air. Despite the availability of an effective vaccine, measles remains a major global issue, particularly in regions with low vaccination rates.

Childhood obesity, with its metabolic complications, is a problem of public health. The International Diabetes Federation (IDF) has recommended glucose levels 1 h post oral glucose load (1h-PG) > 155-209 mg/dL as diagnostic for intermediate hyperglycemia (IH), while >209 mg/dL for type 2 diabetes (T2D). The aim of the study was to assess the occurrence of prediabetes, IH, and T2D in children and adolescents with simple obesity according to the criteria of American Diabetes Association (ADA) and...

We evaluated the effectiveness of COVID-19 vaccines among South Asians living in Ontario, Canada compared to non-South Asians and compared the odds of symptomatic COVID-19 infection and related hospitalizations and deaths among non-vaccinated South Asians and non-South Asians. This was a test negative design study conducted in Ontario, Canada between December 14, 2020 and November 15, 2021. All eligible individuals >18 years with symptoms of COVID-19 were subdivided by ethnicity (South Asian vs...

Background and Objectives: The coronavirus disease of 2019 (COVID-19) pandemic has posed a serious threat to humanity and is considered a global health emergency. Antimalarial drugs (ADs) have been used in the treatment of immuno-inflammatory arthritis (IIA) and coronavirus infection (COVID-19). The aim of this review is to analyze the current knowledge about the immunomodulatory and antiviral mechanisms of action, characteristics of use, and side effects of antimalarial drugs. Material and...

CONCLUSION: Although evidence suggests that persistent autoantibodies can be associated with post-COVID symptoms, the clinical relevance of their presence seems modest at this stage. Current results highlight further research to clarify the role of autoantibodies in the development of post-COVID symptoms, guiding the development of tailored diagnostic and treatment approaches to enhance patient outcomes.

We investigated the risks of post-acute and chronic adverse kidney outcomes of SARS-CoV-2 infection in the pediatric population via a retrospective cohort study using data from the RECOVER program. We included 1,864,637 children and adolescents under 21 from 19 children's hospitals and health institutions in the US with at least six months of follow-up time between March 2020 and May 2023. We divided the patients into three strata: patients with pre-existing chronic kidney disease (CKD),...

CONCLUSION: These results, even if obtained on a small patient's cohort, question whether immunocompromised patients need interventions to improve vaccine SARS-CoV-2 mRNA vaccine response such as additional jab or modulation of immunosuppressive therapy.

CONCLUSIONS: The current study emphasizes the need for healthcare professionals to closely monitor asthma control in asthmatic children to prevent heightened risks of depression and anxiety during the ongoing COVID-19 pandemic.

CONCLUSION: Although the reported data are subjective because they were obtained through a questionnaire and studies with long-term follow-up are needed, our early experience suggests that the vaccine is safe and adolescents and young adults should be encouraged to be vaccinated.

CONCLUSION: A past infection with SARS-CoV-2 may induce anti-RBD-specific memory B cells that can be re-activated by SARS-CoV-2 vaccination, even after rituximab-induced B-cell depletion. This suggests that it is possible to vaccinate earlier than 6 months after rituximab to develop a good antibody response, especially in the case of past SARS-CoV-2 infection.

CONCLUSIONS: Observationally, infectious outcomes of SARS-CoV-2 in fully vaccinated pediatric KTRs are excellent, with a low incidence of infection requiring hospitalization and no associated deaths. Though de novo DSAs were observed, there was minimal graft rejection and graft loss reported in the total cohort.

Our study aimed to assess the severity of severe acute respiratory syndrome coronavirus 2 infection in hospitalized infants under 40 days old, across 21 Belgian hospitals between 2020 and 2022. Of the 365 infants studied, 14.2% needed respiratory support. The median hospital stay was 3 days (interquartile range, 2-4), and there were no deaths. Infection severity was similar during the Omicron and Alpha/Delta periods.

In viral infections, natural killer (NK) cells exhibit anti-viral activity by inducing apoptosis in infected host cells and impeding viral replication through heightened cytokine release. Extracellular vesicles derived from NK cells (NK-EVs) also contain the membrane composition, homing capabilities, and cargo that enable anti-viral activity. These characteristics, and their biocompatibility and low immunogenicity, give NK-EVs the potential to be a viable therapeutic platform. This study...

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BACKGROUND: Regular, detailed reporting on population health by underlying cause of death is fundamental for public health decision making. Cause-specific estimates of mortality and the subsequent effects on life expectancy worldwide are valuable metrics to gauge progress in reducing mortality rates. These estimates are particularly important following large-scale mortality spikes, such as the COVID-19 pandemic. When systematically analysed, mortality rates and life expectancy allow comparisons...

CONCLUSIONS: There was a statistically significant correlation between the total time of room CO2 concentrations ≥1,000 and SARS-CoV-2 cases in an IDD school. Merv-13 filters appear to decrease the incidence of SARS-CoV-2 infection. This research partnership identified areas for improving in-school ventilation.

CONCLUSION: In conclusion, COVID -19 may pose a high risk for exacerbation of pre-existing glomerular disease. It is therefore necessary to closely monitor the kidney function of patients with underlying glomerulonephritis during and after COVID-19 and consider an early biopsy if serum creatinine does not return to baseline levels. In addition, this case report highlights the clinical importance of the co-occurence of IgAN and Alport syndrome.

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COVID-19 is not only associated with substantial acute liver and kidney injuries, but also with an elevated risk of post-acute sequelae involving the kidney and liver system. We aimed to investigate whether COVID-19 exposure increases the long-term risk of kidney and liver disease, and what are the magnitudes of these associations. We searched PubMed, Embase, Web of Science, ClinicalTrials.gov, and the Living Overview of the Evidence COVID-19 Repository for cohort studies estimating the...

CONCLUSIONS: The high seroprevalence of antibodies against SARS-CoV-2 worldwide limits the utility of detecting anti-SARS CoV-2 antibody. The certainty of available evidence supporting the use of serology for diagnosis was graded as very low to low. Future studies should use serologic assays calibrated to a common reference standard.

BACKGROUND: Estimates of demographic metrics are crucial to assess levels and trends of population health outcomes. The profound impact of the COVID-19 pandemic on populations worldwide has underscored the need for timely estimates to understand this unprecedented event within the context of long-term population health trends. The Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) 2021 provides new demographic estimates for 204 countries and territories and 811 additional...

[This corrects the article DOI: 10.3389/fneph.2023.1194989.].

Children who undergo cardiac surgery are prone to postoperative infections for which amoxicillin-clavulanate is a cornerstone antibiotic. Nevertheless, amoxicillin-clavulanate pharmacokinetics have not been studied in infants and children after cardiac surgery so far. Antibiotic exposure might be highly variable in this population due to the impact of growth, maturation and specific pathophysiological and surgery-induced alterations. The objective of this study was to develop evidence-based...

BACKGROUND: Although terminal complement inhibitors transformed the prognosis of atypical haemolytic uraemic syndrome (aHUS) from dismal to favourable, treatment approaches vary due to the intermittent disease nature and high costs. Occasionally, complement inhibition is applied in infectious (i)HUS. We aimed to examine real-world C5 inhibitor use and its impact on patient outcomes.

CONCLUSIONS: In this multicentric cohort of AFD patients, several ECG parameters showed significant changes during follow-up. Only P(end)Q interval showed a significant interaction with treatment status. Moreover, P(end)Q interval, new RBBB and pathologic QTc development were associated with cardiac hypertrophy progression.

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...

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CONCLUSION: This ultrarare presentation highlights the need to consider determining anti-GBM antibodies and/or obtaining a kidney biopsy even in children with less severe presentations of unexplained glomerulonephritis and underlines the clinical treatment dilemma in this disease for children due to the potential long-term sequelae.

CONCLUSIONS: ALG8 and ALG9 are defined as cystic kidney/liver genes but with limited penetrance for lower eGFR.

CONCLUSION: This study outlines a cohort of ADPKD patients with accelerated disease progression, reaching KF before age 40. Hypertension and urological events were highly prevalent at a young age, emphasizing the importance of early and regular blood pressure monitoring.

CONCLUSIONS: We found no association between HCO3^(-) and growth nor evidence of improved growth after treatment of metabolic acidosis. Living donor KTx was positively associated with post-transplant growth, while there was an inverse association with allograft rejection.

Dent disease is a rare X-linked tubulopathy that is characterized by low-molecular-weight (LMW) proteinuria associated with hypercalciuria, which may lead to nephrolithiasis, nephrocalcinosis, and kidney failure between the 3rd and the 5th decades of life in 30-80% of affected males. The disease is most often associated with various manifestations of proximal tubular dysfunction. Affected individuals may present nephrotic range proteinuria which may be misinterpreted and cause diagnostic delay....

Glomerular nephropathy resulting from the genetic defects in COL4A3/4/5 genes including the classical Alport syndrome (AS) is the second commonest hereditary kidney disease characterized by persistent haematuria progressing to the need of kidney replacement therapy, frequently associated with sensorineural deafness, and occasionally with ocular anomalies. Diagnosis and management of COL4A3/4/5 glomerulopathy is a great challenge due to its phenotypic heterogeneity, multiple modes of inheritance,...

CONCLUSIONS: This study presents the initial steps towards developing a matrix tool to enhance paediatric patient engagement in drug development. The multistakeholder approach provided valuable insights into the matrix tool's structure and content. While further validation and refinement are needed, particularly regarding practical implementation and global applicability, this initiative lays the groundwork for more effective and inclusive paediatric drug development processes. Future research...

CONCLUSION: Collaboration between European collaborative national networks and US-network I-ACT for Children has supported site identification of global pediatric clinical trials. This illustrates one method for the importance of early engagement with sponsors and implementation of effective communication systems.

The conventional methods for assessing kidney function, such as glomerular filtration rate and microalbuminuria, provide only partial insight into kidney function. Multi-parametric and multi-nuclear functional resonance magnetic imaging (MRI) techniques are innovative approaches to unraveling kidney physiology. Multi-parametric MRI includes various sequences to evaluate kidney perfusion, tissue oxygenation, and microstructure characterization, including fibrosis-a key pathological event in acute...

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CONCLUSIONS: Treatment efficacy for systolic blood pressure in hypertensive patients with abnormal kidney function diminishes after 2.5 years and for proteinuria in children after 3 years, highlighting the need for dosage recalibration according to guidelines and/or the need for alternative treatments.

While up to 50% of children requiring kidney replacement therapy have congenital anomalies of the kidney and urinary tract (CAKUT), they represent only a fraction of the total patient population with CAKUT. The extreme variability in clinical outcome underlines the fundamental need to devise personalized clinical management strategies for individuals with CAKUT. Better understanding of the pathophysiology of abnormal kidney and urinary tract development provides a framework for precise diagnoses...

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.

Improving health and social equity for persons living with a rare disease (PLWRD) is increasingly recognized as a global policy priority. However, there is currently no international alignment on how to define and describe rare diseases. A global reference is needed to establish a mutual understanding to inform a wide range of stakeholders for actions. A multi-stakeholder, global panel of rare disease experts, came together and developed an Operational Description of Rare Diseases. This...

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CONCLUSIONS: nKPCs emerge as a promising non-invasive source of EVs with potential therapeutic effects on podocytes with genetic dysfunction, through modulation of SUMOylation, an important pathway for the stability of podocyte slit diaphragm proteins. Our findings also suggest the feasibility of developing a non-invasive in vitro model for screening regenerative compounds on patient-derived podocytes.

BACKGROUND: Focal segmental glomerulosclerosis (FSGS) is a histological pattern of glomerular damage that includes idiopathic conditions as well as genetic and non-genetic forms. Among these various etiologies, different phenotypes within the spectrum of congenital anomalies of the kidney and urinary tract (CAKUT) have been associated with FSGS.

CONCLUSIONS: In our pediatric population, the performance of all creatinine-based formulas is inadequate with significant GFR overestimation, mainly in subjects with mGFR > 75 mL/min/1.73 m². Conversely, cystatin C-based or combined formulas have acceptable performance in patients followed in a tertiary pediatric nephrology unit.

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Many genomic, anatomical and functional differences exist between the medullary (MTAL) and the cortical thick ascending limb of the loop of Henle (CTAL), including a higher expression of claudin-10 (CLDN10) in the MTAL than in the CTAL. Therefore, we assessed to what extent the Cldn10 gene expression is a determinant of differential gene expression between MTAL and CTAL. RNAs extracted from CTAL and MTAL microdissected from wild type (WT) and Cldn10 knock out mice (cKO) were analyzed by RNAseq....

CONCLUSION: The influence of growth and development on drug tissue distribution continues to be a knowledge gap, due to the paucity of tissue PK data in children, especially in the younger age categories. Future research in this field should be encouraged as techniques to safely investigate drug tissue disposition in children are available.

The objective of this study is to examine the effect of discontinuing wearing protective garments (absorbent pyjama pants - APP) in children with severe childhood nocturnal enuresis (NE). The study employs a multicenter, parallel, randomized controlled trial. Following a 4-week run-in period, participants were randomly allocated in a 2:1 group allocation to discontinue or continue using APP. The research was conducted across seven European pediatric incontinence centers. The study included...

X-linked hypophosphatemia (XLH) is a rare, multi-systemic, invalidating disease requiring a multi-disciplinary approach. No specific action in XLH, neither for the patients' specific needs nor for the methodology for the evaluation of these were found. Thus, to identify the needs of XLH patients and their caregivers, we organised focus groups in our reference centre with a view to build educational sessions. Focus groups including either XLH children, XLH adults, or caregivers ran in parallel....

CONCLUSION: The perception of LUTS is a result of the intricate interplay between bladder, brain, and kidney function, which may evolve across a lifetime due to the (dys)functionality of these organs.

CONCLUSIONS: During STEC-HUS, GI complications are common, ranging from self-limited elevation of laboratory markers to bowel perforation, a severe complication with a relevant impact on morbidity and mortality. Hepatopancreatic involvement is frequent, but usually short-lasting and self-limiting.

Paediatric clinical trials are critical to ensure that medications prescribed to children are safe and effective. However, evidence-based dosing and labelling of such medications remain limited, and most clinical trials in paediatrics fail. Factors for lack of trial completion include performance at site level (limited patient recruitment, limited site staff experience and lack of infrastructure), the sponsor team (limited paediatric specific expertise in design, uncertainties on robustness of...

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 well...

INTRODUCTION: Atypical hemolytic uremic syndrome (aHUS) is a rare kidney disease caused by dysregulation of the complement alternative pathway. The complement dysregulation specifically leads to damage to the glomerular endothelium. To further understand aHUS pathophysiology, we validated an ex vivo model for measuring complement deposition on both control and patient human glomerular microvascular endothelial cells (GMVECs).

CONCLUSION: The interplay between kidney function, diuresis, and LUTS is crucial in understanding lifelong urinary health. Bridging the gap between pediatric and adult care is essential to address enuresis in adolescents and young adults effectively. For older adults, recognizing the impact of aging on renal function and fluid balance is vital in managing nocturia. This holistic approach provides a foundation for developing innovative interventions and personalized treatments to enhance quality...

CONCLUSION: The FH of XLH patients in France increased significantly over the last decades. Even though men's FHs improved more than women's, men with XLH remain shorter reflecting a more severe disease phenotype. While the results are promising, most patients with XLH remain short leaving room for improvement.

CONCLUSIONS: Overall, we discovered a new mechanism that connects TRPC6 and calpain activity to impaired podocyte autophagy, increased podocyte injury, and development of proteinuria in the context of diabetic kidney disease. Therefore, targeting TRPC6 and/or calpain to restore podocyte autophagy might be a promising therapeutic strategy for diabetic kidney disease.

CONCLUSIONS: ECG is a sensitive tool for early identification and long-term monitoring of cardiac involvement in patients with AFD, providing "instantaneous pictures" along the natural history of AFD. Whether ECG changes may be associated with clinical events remains to be determined.

Despite a large number of people globally being affected by rare kidney diseases, research support and health care policy programs usually focus on the management of the broad spectrum of CKD without particular attention to rare causes that would require a targeted approach for proper cure. Hence, specific curative approaches for rare kidney diseases are scarce, and these diseases are not treated optimally, with implications on the patients' health and quality of life, on the cost for the health...

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Acute kidney injury (AKI) is common after pediatric cardiac surgery (CS). Several urine biomarkers have been validated to detect AKI earlier. The objective of this study was to evaluate urine CHI3L1, NGAL, TIMP-2, IGFBP7, and NephroCheck^(®) as predictors for AKI ≥ 1 in pediatric CS after 48 h and AKI ≥ 2 after 12 h. Pediatric patients (age < 18 year; body weight ≥ 2 kg) requiring CS were prospectively included. Urine CHI3L1, NGAL, TIMP-2, IGFBP7, and NephroCheck^(®) were measured during surgery...

CONCLUSION: Cardiovascular abnormalities are prevalent in patients with ADPKD. Considering the importance of cardiovascular disease for outcomes in CKD, early management and possibly prevention are important goals of any treatment scheme. Consequently, echocardiography should be offered to all patients with ADPKD in routine management.

CONCLUSIONS: Tolvaptan exhibited pharmacodynamic activity in pediatric ADPKD. Aquaretic effects were manageable, with few discontinuations.

Hereditary transthyretin amyloidosis (ATTRv; v for "variant") is the most common form of hereditary amyloidosis, with an autosomal dominant inheritance and a variable penetrance. This disease has a significant variability in clinical presentation and multiorgan involvement. While kidney involvement in early-onset ATTRv has been reported in one-third of patients, in late-onset ATTRv it has generally been considered rare. In the present study, we describe trajectories of kidney function over time...

CONCLUSIONS: Cinacalcet in pediatric HPT can control hypercalcemia and PTH without significant side effects.

CONCLUSIONS: Lumasiran treatment provided sustained reductions in urinary and plasma oxalate through month 12 across all weight subgroups, with an acceptable safety profile, in infants and young children with PH1. A higher resolution version of the Graphical abstract is available as Supplementary information.

Alport syndrome (AS) is the second most common cause of inherited chronic kidney disease. This disorder is caused by genetic variants on COL4A3, COL4A4 and COL4A5 genes. These genes encode the proteins that constitute collagen type IV of the glomerular basement membrane (GBM). The heterodimer COL4A3A4A5 constitutes the majority of the GBM, and it is essential for the normal function of the glomerular filtration barrier (GFB). Alterations in any of collagen type IV constituents cause disruption...

Primary hyperoxaluria (PH) is a rare genetic disease caused by excessive hepatic production and elevated urinary excretion of oxalate that leads to recurrent nephrolithiasis, nephrocalcinosis and, eventually, kidney failure. As glomerular filtration rate declines, oxalate accumulates leading to systemic oxalosis, a debilitating condition with high morbidity and mortality. Although PH is usually diagnosed during infancy, it can present at any age with different phenotypes, ranging from mild...

Accurate diagnosis of primary hyperoxaluria (PH) has important therapeutic consequences. Since biochemical assessment can be unreliable, genetic testing is a crucial diagnostic tool for patients with PH to define the disease type. Patients with PH type 1 (PH1) have a worse prognosis than those with other PH types, despite the same extent of oxalate excretion. The relation between genotype and clinical phenotype in PH1 is extremely heterogeneous with respect to age of first symptoms and...

CONCLUSION: The voiding diary and the questionnaire, as recommended by the ICCS at the screening of treatment-naïve enuretic patients, are considerably inconsistent and have significantly different sensitivities in identifying LUTS and thus differentiating MNE from NMNE. However, the high incidence of LUTS and very low prevalence of MNE suggest that differentiating MNE from NMNE to the maximum might not always correlate with different therapy responses.

CONCLUSION: Long-term lumasiran treatment enabled sustained lowering of UOx levels with acceptable safety and encouraging results on clinical outcomes.