Pediatric Nephrology最新文献

{"title":"Expanded CRB2-related disease phenotype: multisystem involvement and post-transplant complications in monozygotic twins.","authors":"Moran Plonsky Toder, Shirley Pollack, Rami Tibi, Irina Libinson-Zebegret, Renata Yakubov, Israel Eisenstein, Mika Shapira Rootman, Daniella Magen","doi":"10.1007/s00467-025-06827-w","DOIUrl":"10.1007/s00467-025-06827-w","url":null,"abstract":"<p><strong>Background: </strong>Congenital nephrotic syndrome (CNS) is a rare disorder caused by mutations in genes essential for podocyte function and glomerular slit diaphragm integrity, including CRB2 (Crumbs Cell Polarity Complex Component 2). CRB2 mutations are linked to focal segmental glomerulosclerosis and ventriculomegaly with cystic kidney disease, but their full phenotypic spectrum remains unclear. We describe the clinical course of monozygotic twins with a homozygous CRB2 mutation, highlighting severe complications following kidney transplantation.</p><p><strong>Methods: </strong>The twins, who were followed and managed throughout their clinical course, were diagnosed with CNS after prenatal suspicion of polycystic kidney disease. Initial exome sequencing was negative, but subsequent whole exome sequencing revealed a homozygous CRB2 variant.</p><p><strong>Results: </strong>Both twins presented with CNS, requiring intensive supportive care. Additional findings included cerebral heterotopia, cardiac involvement, and developmental delay. They both progressed to kidney failure, necessitating hemodialysis in early childhood. Post-transplant, the first twin succumbed to a systemic fungal infection, while the second developed complications linked to immune dysregulation, including post-transplant lymphoproliferative disease (PTLD), immune thrombocytopenic purpura (ITP), multiple viremias, and de novo donor-specific antibodies (DSA).</p><p><strong>Conclusions: </strong>This case expands the phenotypic spectrum of CRB2-related disease, highlights management challenges, and underscores the need for genetic re-analysis in rare diseases. Further research is required to understand CRB2-related mechanisms.</p>","PeriodicalId":19735,"journal":{"name":"Pediatric Nephrology","volume":" ","pages":"3093-3099"},"PeriodicalIF":2.6,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12401768/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144209106","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Assessment and management of magnesium and trace element status in children with CKD stages 2-5, on dialysis and post-transplantation: Clinical practice points from the Pediatric Renal Nutrition Taskforce.","authors":"Jetta Tuokkola, Caroline E Anderson, Sheridan Collins, Pearl Pugh, Molly R Wong Vega, Matthew Harmer, Lyndsay A Harshman, Christina L Nelms, Barry Toole, An Desloovere, Fabio Paglialonga, Nonnie Polderman, José Renken-Terhaerdt, Rukshana Shroff, Evelien Snauwaert, Stella Stabouli, Johan Vande Walle, Bradley A Warady, Vanessa Shaw, Larry A Greenbaum","doi":"10.1007/s00467-025-06759-5","DOIUrl":"10.1007/s00467-025-06759-5","url":null,"abstract":"<p><p>Children and young people with chronic kidney disease (CKD) are at risk for deficiency or excess of magnesium and trace elements. Kidney function, dialysis, medication, and dietary and supplemental intake can affect their biochemical status. There is much uncertainty about the requirements of magnesium and trace elements in CKD, which leads to variation in practice. The Pediatric Renal Nutrition Taskforce is an international team of pediatric kidney dietitians and pediatric nephrologists, formed to develop evidence-based clinical practice points to improve the nutritional care of children with CKD. PICO (patient, intervention, comparator, and outcomes) questions led the literature searches, which were conducted to ascertain current biochemical status, dietary intake, and factors leading to requirements differing from healthy peers, and to guide nutritional care of children with CKD stages 2-5, on dialysis, and post-transplantation. We address the assessment and intervention of magnesium and the trace elements chromium, copper, fluoride, iodine, manganese, selenium, and zinc. We suggest routine biochemical assessment of magnesium. Trace element assessment is based on clinical suspicion of deficiency or excess and their risk factors, including accumulation, losses, medications, nutrient interactions, and comorbidities. In particular, we suggest assessing magnesium, copper, iodine, and zinc when growth is poor, and evaluating magnesium, copper, selenium, and zinc in the presence of proteinuria. A structured approach to magnesium and trace element management, including biochemical, physical, and dietary assessment, is beneficial in the paucity of evidence. Research recommendations are suggested.</p>","PeriodicalId":19735,"journal":{"name":"Pediatric Nephrology","volume":" ","pages":"3301-3323"},"PeriodicalIF":2.6,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12402044/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144086360","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Corticosteroids in pediatric kidney scar prevention after urinary tract infection.","authors":"Nikolaos Gkiourtzis, Panagiota Michou, Despoina Tramma","doi":"10.1007/s00467-025-06830-1","DOIUrl":"10.1007/s00467-025-06830-1","url":null,"abstract":"","PeriodicalId":19735,"journal":{"name":"Pediatric Nephrology","volume":" ","pages":"3325"},"PeriodicalIF":2.6,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144094264","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Performance evaluation of large language models in pediatric nephrology clinical decision support: a comprehensive assessment.","authors":"Olivier Niel, Dishana Dookhun, Ancuta Caliment","doi":"10.1007/s00467-025-06819-w","DOIUrl":"10.1007/s00467-025-06819-w","url":null,"abstract":"<p><strong>Background: </strong>Large language models (LLMs) have emerged as potential tools in health care following advancements in artificial intelligence. Despite promising applications across multiple medical specialties, limited research exists regarding LLM implementation in pediatric nephrology. This study evaluates the performance of contemporary LLMs in supporting clinical decision-making processes for practicing pediatric nephrologists.</p><p><strong>Methods: </strong>Ten comprehensive clinical cases covering various aspects of pediatric nephrology were designed and validated by experts based on international guidelines. Each case comprised questions addressing diagnosis, biological/imaging explorations, treatments, and logic. Ten LLMs were assessed, including generalist models (Claude, ChatGPT, Gemini, DeepSeek, Mistral, Copilot, Perplexity, Phi 4) and a specialized model (Phi 4 Nomic) fine-tuned using retrieval-augmented generation with validated pediatric nephrology materials. Performance was evaluated based on accuracy, personalization, internal contradictions, hallucinations, and potentially dangerous decisions.</p><p><strong>Results: </strong>Overall accuracy ranged from 50.8% (Gemini) to 86.9% (Claude), with a mean of 66.24%. Claude significantly outperformed other models (p = 0.01). Personalization scores varied between 50% (ChatGPT) and 85% (Claude). All models exhibited hallucinations (2-8 occurrences) and potentially life-threatening decisions (0-2 occurrences). Domain-specific fine-tuning improved performance across all clinical criteria without enhancing reasoning capabilities. Performance variability was minimal, with higher performing models demonstrating greater consistency.</p><p><strong>Conclusions: </strong>While certain LLMs demonstrate promising accuracy in pediatric nephrology applications, persistent challenges including hallucinations and potentially dangerous recommendations preclude autonomous clinical implementation. LLMs may currently serve supportive roles in repetitive tasks, but they should be used under strict supervision in clinical practice. Future advancements addressing hallucination mitigation and interpretability are necessary before broader clinical integration.</p>","PeriodicalId":19735,"journal":{"name":"Pediatric Nephrology","volume":" ","pages":"3211-3218"},"PeriodicalIF":2.6,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144216461","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pediatric continuous kidney replacement therapy: The Indonesian experience.","authors":"Henny Adriani Puspitasari, Eka Laksmi Hidayati, Reza Fahlevi, Irene Yuniar, Sudung O Pardede, Ni Nyoman Berlian Aryadevi","doi":"10.1007/s00467-025-06807-0","DOIUrl":"10.1007/s00467-025-06807-0","url":null,"abstract":"<p><strong>Background: </strong>Acute kidney injury (AKI) is a common complication in critically ill children, with continuous kidney replacement therapy (CKRT) as the key treatment, especially for hemodynamically unstable children. Although numerous studies have been conducted on CKRT, data from resource-constrained settings are scarce. Centers with more experience in CKRT tend to have better survival rates. This study aims to describe and analyze the characteristics of critically ill patients who received CKRT and examine the factors influencing CKRT outcomes in resource-limited settings.</p><p><strong>Methods: </strong>A retrospective analysis was conducted on medical records from January 2015 to June 2023. Demographic data; clinical and laboratory profiles; hospitalization duration; use of inotropic support and mechanical ventilation; and the presence of sepsis, AKI, acute lung injury, acute respiratory distress syndrome, and encephalopathy were recorded and compared between survivors and non-survivors.</p><p><strong>Results: </strong>Fifty-six critically ill children underwent CKRT. The median age was 7.4 years, and the median body weight was 22.2 kg. CKRT was mostly indicated in sepsis-associated AKI (41.1%), nonsepsis AKI (23.2%), and acute-on-chronic kidney disease (21.4%). The median CKRT duration was 52.2 h, with median total delivered dose and mean blood flow rate per kilogram of 22.2 and 3.1 mL/kg/min, respectively. The overall survival rate was 25%.</p><p><strong>Conclusions: </strong>Although patient demographics and CKRT prescriptions were like those at other centers, survival was low at our center because of considerable resource limitations. Despite challenges, CKRT remains the preferred treatment for critically ill children.</p>","PeriodicalId":19735,"journal":{"name":"Pediatric Nephrology","volume":" ","pages":"3273-3279"},"PeriodicalIF":2.6,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144128304","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The effect of fecal microbial transplantation in a pediatric patient after 28 episodes of febrile urinary tract infection.","authors":"Barbora Piteková, Ivan Hric, Eva Baranovičová, Jakub Zieg, Paul J Planet, Viktor Bielik","doi":"10.1007/s00467-025-06822-1","DOIUrl":"10.1007/s00467-025-06822-1","url":null,"abstract":"<p><p>Recurrent febrile urinary tract infections (fUTIs) in children can lead to serious complications such as renal scarring and progressive chronic kidney disease (CKD), with growing evidence indicating that gut microbiome dysbiosis may play a key role in their development. Fecal microbial transplantation (FMT) is an established therapeutic approach for restoring gut microbial balance; however, its use in patients with recurrent fUTIs remains limited and underexplored. This case study describes a 10-year-old boy with recurrent fUTIs and CKD secondary to a posterior urethral valve (PUV) anomaly. The patient was administered a total of seven doses of FMT. FMT reduced pathogenic Enterobacteriaceae, increased beneficial short-chain fatty acid (SCFA)-producing genera, and correspondingly raised SCFA levels, indicating restoration of gut microbiota balance. FMT presents an innovative therapeutic option for pediatric patients with recurrent fUTIs, demonstrating outstanding clinical outcomes.</p>","PeriodicalId":19735,"journal":{"name":"Pediatric Nephrology","volume":" ","pages":"3085-3088"},"PeriodicalIF":2.6,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12402004/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144111552","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Intrarenal reflux is linked to subsequent kidney scarring: a retrospective study.","authors":"Jisun Hwang, Su Jin Lee, Ki Soo Pai, Peong Gang Park","doi":"10.1007/s00467-025-06820-3","DOIUrl":"10.1007/s00467-025-06820-3","url":null,"abstract":"<p><strong>Background: </strong>This study investigates whether intrarenal reflux (pyelotubular backflow) is associated with kidney scarring in children with urinary tract infection (UTI).</p><p><strong>Methods: </strong>We retrospectively reviewed 441 children diagnosed with UTI who underwent voiding cystourethrography (VCUG) and a technetium-99 m dimercaptosuccinic acid (DMSA) scan more than 3 months after the UTI. Intrarenal reflux was identified on VCUG. Using multivariable logistic regression, we analyzed the association between intrarenal reflux and kidney scarring on DMSA scans, adjusting for vesicoureteral reflux (VUR) grade and other clinical variables.</p><p><strong>Results: </strong>Out of 874 kidney units, VUR was detected in 255 units (29.1%), with intrarenal reflux present in 35 units (13.7%). Kidney scarring was observed in 12.7% of all kidney units. Intrarenal reflux was significantly associated with an increased risk of kidney scarring (odds ratio 3.35, 95% confidence interval 1.31-8.58) after adjusting for VUR grade. Notably, 92% of photon defects on DMSA scans in units with intrarenal reflux were located at the reflux site.</p><p><strong>Conclusions: </strong>Intrarenal reflux is an independent predictor of kidney scarring beyond conventional VUR grading. Recognizing and reporting intrarenal reflux during VUR assessment may aid in developing tailored management strategies for children with UTI and VUR.</p>","PeriodicalId":19735,"journal":{"name":"Pediatric Nephrology","volume":" ","pages":"3129-3136"},"PeriodicalIF":2.6,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144136158","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Idiopathic fibrillary glomerulonephritis in pediatric patients: addressing treatment challenges in a 12-year-old girl.","authors":"Ester Cholbi Vives, Javier Martín Benlloch, Josselyn Hernández Chinchilla, Vicent Martínez Cózar, Judith Pérez Rojas, Pedro Ortega López","doi":"10.1007/s00467-025-06799-x","DOIUrl":"10.1007/s00467-025-06799-x","url":null,"abstract":"<p><p>A 12-year-old girl presented with proteinuria and peripheral edema. Initial evaluation did not identify a clear underlying etiology. Upon the diagnosis of nephrotic syndrome, corticosteroid therapy was initiated. However, the therapeutic response was suboptimal, with persistent proteinuria, the onset of de novo microhematuria, and progressive kidney dysfunction. A kidney biopsy was performed, which led to the diagnosis of fibrillary glomerulopathy, a rare pediatric condition characterized histologically by the presence of fibrillary deposits and positive immunostaining for DNAJB9. There is no established effective treatment for this condition. In our case, the patient was treated with antiproteinuric and calcineurin inhibitors, resulting in complete resolution of microhematuria, normalization of kidney function, and substantial improvement in proteinuria.</p>","PeriodicalId":19735,"journal":{"name":"Pediatric Nephrology","volume":" ","pages":"3081-3084"},"PeriodicalIF":2.6,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144049452","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Is sclerostin a true mediator of diabetic nephropathy, or just a surrogate of altered bone metabolism?","authors":"Malik Aqeel Ahmad, Muhammad Ibrahim","doi":"10.1007/s00467-025-06870-7","DOIUrl":"10.1007/s00467-025-06870-7","url":null,"abstract":"","PeriodicalId":19735,"journal":{"name":"Pediatric Nephrology","volume":" ","pages":"3327"},"PeriodicalIF":2.6,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144529203","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Acute kidney injury magnitude, mortality, and associated factors among neonates in sub-Saharan Africa: a systematic review and meta-analysis.","authors":"Nigatu Dessalegn, Tamiru Alene, Tamene Fetene Terefe, Amare Kassaw, Yalemtsehay Dagnaw Genie, Haile Workye, Melaku Bimerew","doi":"10.1007/s00467-025-06756-8","DOIUrl":"10.1007/s00467-025-06756-8","url":null,"abstract":"<p><p>Acute kidney injury (AKI) is the most frequent clinical problem that occurs in neonates, and it is associated with different medical problems. Sub-Saharan Africa accounts for a large majority of global neonatal mortality due to infection, prematurity, and birth asphyxia. All these factors are the major risk factors for AKI. AKI is an emerging significant health care concern, influenced by unique regional challenges. Despite its high burden on neonates, there is a lack of compiled evidence in sub-Saharan Africa that shows the burden of AKI among neonates. This systematic review and meta-analysis should provide the pooled prevalence of AKI in sub-Saharan Africa and its significant underlying factors. We searched (Pub-Med/Medline, HINARI, Cochrane Library, PsycINFO, Google Scholar, and online archives) articles with no date restrictions. Our database search included peer-reviewed articles and grey literature. The search terms were restricted to articles published in the English language only. The meta-analysis was conducted using Stata 17, and the estimated pooled prevalence associated with a 95% confidence interval was used to report the finding. I² was used to assess the presence of significant heterogeneity among the included studies. A total of 13 studies with 4640 neonates from nine sub-Saharan African countries that met the inclusion criteria were included. In this review, the estimated pooled prevalence of AKI was 22.14%, and mortality among neonates in the included studies was 32.0%. Factors that were significantly associated with AKI were sepsis (adjusted odds ratio = 3.96; 95% confidence interval 1.34-11.66), asphyxia (adjusted odds ratio = 2.96; 95% confidence interval 1.85-4.64), low fluid intake (adjusted odds ratio = 4.88:95% confidence interval 1.63-14.55), and hypothermia (adjusted odds ratio = 2.71; 95% confidence interval 1.72-4.28). The prevalence of AKI among neonates in sub-Saharan Africa was high, and multiple risk factors affect neonatal AKI occurrence. Identification and early management of those risk factors will help to reduce AKI occurrence in the neonatal period.</p>","PeriodicalId":19735,"journal":{"name":"Pediatric Nephrology","volume":" ","pages":"3067-3076"},"PeriodicalIF":2.6,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144047430","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}