Pediatric Nephrology最新文献

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Spectrum of kidney disease in pediatric sarcoidosis. 小儿结节病肾病谱。
IF 2.5 3区 医学
Pediatric Nephrology Pub Date : 2026-12-01 Epub Date: 2025-09-09 DOI: 10.1007/s00467-025-06939-3
Tanvi Bindal, Srinivasavaradan Govindarajan, Adarsh Barwad, Priyanka Naranje, Nishikant Avinash Damle, Pankaj Hari, Aditi Sinha, Arvind Bagga
{"title":"Spectrum of kidney disease in pediatric sarcoidosis.","authors":"Tanvi Bindal, Srinivasavaradan Govindarajan, Adarsh Barwad, Priyanka Naranje, Nishikant Avinash Damle, Pankaj Hari, Aditi Sinha, Arvind Bagga","doi":"10.1007/s00467-025-06939-3","DOIUrl":"10.1007/s00467-025-06939-3","url":null,"abstract":"<p><strong>Background: </strong>Kidney involvement in pediatric sarcoidosis is rare and often underrecognized, leading to diagnostic delays and treatment challenges. We report six patients with renal sarcoidosis to highlight their diverse presentations and outcomes and challenges in management.</p><p><strong>Methods: </strong>Medical records of patients diagnosed with renal sarcoidosis during 2020-24 were reviewed. Sarcoidosis was diagnosed based on clinical and histological features and exclusion of alternative causes and managed according to unit protocols. Information on clinical features, laboratory and radiologic findings, histopathology, treatment, and follow-up were compiled.</p><p><strong>Results: </strong>We present six patients with sarcoidosis, presenting with kidney involvement at the age of 1.5-14 years, and followed up for 7-138 months. All patients had acute kidney injury (AKI) of whom two required hemodialysis. Proteinuria was present in all patients, while four patients had microscopic hematuria or leukocyturia. Hypercalcemia with hypercalciuria, distal renal tubular acidosis, and nephrocalcinosis were seen in five, two, and one case, respectively. Granulomatous interstitial nephritis was confirmed histologically in all cases. While initial therapy with corticosteroids led to clinical remission in all cases, five patients had nine relapses, necessitating second-line immunosuppression with mycophenolate mofetil, azathioprine, or methotrexate; one patient received antitumor necrosis factor therapy. Median eGFR at last follow up was 59.7 (range 12.7-132) ml/min/1.73 m<sup>2</sup>; three progressed to chronic kidney disease (CKD) stages G3-G5.</p><p><strong>Conclusions: </strong>Kidney involvement in pediatric sarcoidosis manifests in diverse forms, ranging from isolated biochemical abnormalities to severe AKI. While prompt immunosuppression might preserve kidney function, patients require close monitoring for relapses, and progression to CKD.</p>","PeriodicalId":19735,"journal":{"name":"Pediatric Nephrology","volume":" ","pages":"125-134"},"PeriodicalIF":2.5,"publicationDate":"2026-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145030299","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}
引用次数: 0
Phosphate homeostasis and endocrine regulators. 磷酸盐稳态与内分泌调节。
IF 2.5 3区 医学
Pediatric Nephrology Pub Date : 2026-12-01 Epub Date: 2026-06-20 DOI: 10.1007/s00467-026-07399-z
Clemens Bergwitz
{"title":"Phosphate homeostasis and endocrine regulators.","authors":"Clemens Bergwitz","doi":"10.1007/s00467-026-07399-z","DOIUrl":"10.1007/s00467-026-07399-z","url":null,"abstract":"<p><p>Phosphate homeostasis is essential for skeletal integrity, cellular metabolism, and endocrine regulation. In humans, circulating phosphate is typically maintained between 2.5 and 4.5 mg/dL by coordinated processes that balance gastrointestinal uptake from the diet, storage in cells and bone matrix, and renal reclamation that regulates excretion. Dietary phosphate enters primarily through the small intestine via a low‑affinity paracellular diffusion and a high‑affinity, sodium‑coupled transcellular route mediated by transporters such as NPT2b, PIT1, and PIT2. After absorption, phosphate is incorporated into hydroxyapatite within the skeleton and continuously shuttled between extra‑ and intracellular compartments mediated by transporters such as PIT1, PIT2, and XPR1 as metabolic demands change. At the kidney, proximal tubular transporters-especially NPT2a and NPT2c-set the tone for systemic phosphate balance. Endocrine regulators, including parathyroid hormone (PTH), fibroblast growth factor 23 (FGF23), and 1,25‑dihydroxyvitamin D (calcitriol), adjust intestinal uptake, skeletal turnover, and renal handling to avert hyper‑ or hypophosphatemia. Beyond these hormones, phosphate appears to signal directly to cells, engaging pathways such as ERK1/2 and thereby modulating secretion of PTH and FGF23. Perturbations in these circuits manifest as rickets, osteomalacia, and vascular calcification. Understanding the interplay between transport systems, hormonal control, and cellular phosphate sensing is crucial for preventing and treating phosphate‑related disease.</p>","PeriodicalId":19735,"journal":{"name":"Pediatric Nephrology","volume":" ","pages":"4325-4334"},"PeriodicalIF":2.5,"publicationDate":"2026-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148295964","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}
引用次数: 0
A novel marker of electrical instability in children with hypertension: cardiac electrophysiological balance index. 一种新的高血压儿童电不稳定指标:心脏电生理平衡指数。
IF 2.5 3区 医学
Pediatric Nephrology Pub Date : 2026-12-01 Epub Date: 2025-09-11 DOI: 10.1007/s00467-025-06934-8
Seyma Kayali, Emine Gulsah Ozdemir, Yucel Hanilce
{"title":"A novel marker of electrical instability in children with hypertension: cardiac electrophysiological balance index.","authors":"Seyma Kayali, Emine Gulsah Ozdemir, Yucel Hanilce","doi":"10.1007/s00467-025-06934-8","DOIUrl":"10.1007/s00467-025-06934-8","url":null,"abstract":"<p><strong>Background: </strong>Pediatric hypertension is a growing health concern, with prolonged exposure to high blood pressure potentially causing electrical instability and increasing arrhythmia risk. The index of cardiac electrophysiological balance (iCEB), calculated as QT interval divided by QRS duration, is a potential non-invasive marker for arrhythmogenesis. This study aimed to evaluate iCEB and corrected iCEB (iCEBc) in hypertensive children and investigate their relationship with arrhythmic risk.</p><p><strong>Methods: </strong>This cross-sectional study included 81 children with primary hypertension and 36 age- and sex-matched healthy controls. Office blood pressure, 24-h ambulatory blood pressure monitoring (ABPM), standard echocardiography, and 12-lead electrocardiograms (ECGs) were obtained. QT, QTc, Tp-e, Tp-e/QT, Tp-e/QTc, iCEB, and iCEBc were calculated. Echocardiographic measurements and laboratory parameters were also evaluated.</p><p><strong>Results: </strong>The mean age of the hypertensive group was 13.8 ± 3 years, with 60.5% males. Most (64.2%) demonstrated a non-dipping BP pattern. Echocardiography showed preserved ejection fraction (72.7 ± 5.4%) and shortening fraction (42 ± 5.1%), with left ventricular hypertrophy (LVH) observed in 8.6% of cases. ECG analysis revealed significantly prolonged QTc interval (416.8 ± 30.2 ms vs. 401.8 ± 23.4 ms; p = 0.008), iCEB (3.92 vs. 3.44; p = 0.02), and iCEBc (4.58 vs. 4.09; p = 0.001) values in hypertensive patients compared to controls. No significant differences were observed in Tp-e, Tp-e/QT, or Tp-e/QTc.</p><p><strong>Conclusion: </strong>Children with hypertension exhibit subclinical alterations in cardiac electrophysiology, including significantly elevated iCEB and iCEBc values, which may indicate electrical instability and a higher arrhythmia risk. These indices may serve as practical, non-invasive tools for early detection of subclinical electrophysiological changes in pediatric hypertension.</p>","PeriodicalId":19735,"journal":{"name":"Pediatric Nephrology","volume":" ","pages":"167-175"},"PeriodicalIF":2.5,"publicationDate":"2026-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145033877","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}
引用次数: 0
Ratings of parenting stress in mild to moderate chronic kidney disease in children: a pilot investigation. 轻度至中度慢性肾病患儿的父母压力评分:一项试点调查。
IF 2.5 3区 医学
Pediatric Nephrology Pub Date : 2026-12-01 Epub Date: 2025-09-02 DOI: 10.1007/s00467-025-06936-6
Peter J Duquette, Crista W Donewar, Stephen R Hooper
{"title":"Ratings of parenting stress in mild to moderate chronic kidney disease in children: a pilot investigation.","authors":"Peter J Duquette, Crista W Donewar, Stephen R Hooper","doi":"10.1007/s00467-025-06936-6","DOIUrl":"10.1007/s00467-025-06936-6","url":null,"abstract":"<p><strong>Background: </strong>Parental stress in pediatric chronic illness is well known; however, there is a dearth of literature describing parental stress in pediatric chronic kidney disease (CKD). This pilot study evaluated parenting stress in mild to moderate pediatric CKD relative to caregivers of healthy, typically developing children.</p><p><strong>Methods: </strong>The study included 38 children, ages 6 to 12 years, and their parents (CKD Group = 10, Typical Group = 28). Pediatric CKD participants had mild to moderate kidney dysfunction for at least 3 months. Parents completed the Parenting Stress Index (PSI-3) as a measure of their current stress.</p><p><strong>Results: </strong>Serial linear regressions revealed no significant group differences on the Child, Parent, Total Stress, or Life Stress domains; however, exploratory analyses revealed significant parental stress on the subscales of Mood and Acceptability, as well as concerns about their own Competence and Health. Compared to the control group, parents of patients with CKD also reported significantly high levels of stress on Adaptability (50% versus 21.4%), Mood (60% versus 25%), and Acceptability (50% versus 10.7%).</p><p><strong>Conclusions: </strong>While overall levels of parenting stress were not unduly elevated in group comparisons, increased stress levels with respect to their child's mood, acceptability, and their own personal health were noted. The proportion of CKD parent ratings reaching significantly high stress levels also was uniformly high, particularly in Adaptability, Mood, Acceptability, (parental) Competence, and Total Stress. These pilot results should guide future studies exploring parent/family factors and potential interventions for reducing parenting stress and related burdens in the clinical care of children with CKD.</p>","PeriodicalId":19735,"journal":{"name":"Pediatric Nephrology","volume":" ","pages":"185-192"},"PeriodicalIF":2.5,"publicationDate":"2026-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144964144","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}
引用次数: 0
APRIL: spring forward also for IgA vasculitis nephritis in children. 四月:春天也为IgA血管炎肾炎的儿童。
IF 2.5 3区 医学
Pediatric Nephrology Pub Date : 2026-12-01 Epub Date: 2025-06-11 DOI: 10.1007/s00467-025-06839-6
Licia Peruzzi
{"title":"APRIL: spring forward also for IgA vasculitis nephritis in children.","authors":"Licia Peruzzi","doi":"10.1007/s00467-025-06839-6","DOIUrl":"10.1007/s00467-025-06839-6","url":null,"abstract":"","PeriodicalId":19735,"journal":{"name":"Pediatric Nephrology","volume":" ","pages":"1-9"},"PeriodicalIF":2.5,"publicationDate":"2026-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144266897","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}
引用次数: 0
Ultra-rare severe kidney dysplasia mimicking salt-wasting tubulopathy associated with TFCP2L1 gene variants. 与TFCP2L1基因变异相关的超罕见严重肾发育不良模拟盐损耗小管病。
IF 2.5 3区 医学
Pediatric Nephrology Pub Date : 2026-12-01 Epub Date: 2025-06-26 DOI: 10.1007/s00467-025-06804-3
Manuel Vaqueiro Graña, Leire Madariaga, Sara Gómez-Conde, Ainhoa Iceta Lizarraga, Josune Hualde Olascoaga, Gema Ariceta
{"title":"Ultra-rare severe kidney dysplasia mimicking salt-wasting tubulopathy associated with TFCP2L1 gene variants.","authors":"Manuel Vaqueiro Graña, Leire Madariaga, Sara Gómez-Conde, Ainhoa Iceta Lizarraga, Josune Hualde Olascoaga, Gema Ariceta","doi":"10.1007/s00467-025-06804-3","DOIUrl":"10.1007/s00467-025-06804-3","url":null,"abstract":"<p><p>Rare monogenic diseases are increasingly identified in children with chronic kidney disease. We describe a consanguineous preterm male infant with a clinical picture of advanced kidney dysfunction and severe renal salt-wasting, highly suggestive of prenatal onset Bartter syndrome. Patient's follow-up was characterized by severe polyuria; episodes of hyponatremia, hypokalemia, and hypochloremia; and metabolic alkalosis and hyperuricemia. We found a homozygous pathogenic variant in the TFCP2L1 gene, a transcription factor required for normal kidney development, that regulates acid-base and salt-water homeostasis. To our knowledge, there is only one published case of a child with TFCP2L1 gene pathogenic variants with a similar phenotype. This report adds evidence to TFCP2L1 as a cause of monogenic kidney disorders. Rare kidney dysplasias may manifest as phenocopies of primary tubulopathies. Genetic diagnosis plays a major role and should be carefully considered in patients with refractory course to standard treatment to facilitate management and family counselling.</p>","PeriodicalId":19735,"journal":{"name":"Pediatric Nephrology","volume":" ","pages":"73-76"},"PeriodicalIF":2.5,"publicationDate":"2026-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12686043/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144497613","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}
引用次数: 0
Clinical complications and anthropometric indicators of chronic kidney disease in a global context: scoping review. 慢性肾脏疾病在全球范围内的临床并发症和人体测量指标:范围审查。
IF 2.5 3区 医学
Pediatric Nephrology Pub Date : 2026-12-01 Epub Date: 2026-06-05 DOI: 10.1007/s00467-026-07381-9
Virginia Maria Muniz, Leticia de Paiva Souza Klippel, Karla Laurindo Ferreira Freitas, Karen Dos Santos Barbosa, Manoela Cassa Libardi, Olivia Maria de Paula Alves Bezerra, Alexandre Cardoso da Cunha, Alice Pignaton Naseri, Antonio Lima Netto, Haysla Xavier Martins Mendonça, Luciane Bresciani Salaroli
{"title":"Clinical complications and anthropometric indicators of chronic kidney disease in a global context: scoping review.","authors":"Virginia Maria Muniz, Leticia de Paiva Souza Klippel, Karla Laurindo Ferreira Freitas, Karen Dos Santos Barbosa, Manoela Cassa Libardi, Olivia Maria de Paula Alves Bezerra, Alexandre Cardoso da Cunha, Alice Pignaton Naseri, Antonio Lima Netto, Haysla Xavier Martins Mendonça, Luciane Bresciani Salaroli","doi":"10.1007/s00467-026-07381-9","DOIUrl":"10.1007/s00467-026-07381-9","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Background: &lt;/strong&gt;Pediatric chronic kidney disease (CKD) is a serious public health problem and represents a considerable burden on health systems, particularly in low- and middle-income countries (LMICs). Despite well-documented global disparities in CKD management, the extent of these differences across continents remains insufficiently explored, particularly in pediatric populations.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Objective: &lt;/strong&gt;To explore the body of recent evidence on clinical complications and anthropometric indicators of CKD in childhood and to identify gaps in knowledge that can guide the development of future studies of CKD in childhood, in the global context.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Data sources: &lt;/strong&gt;Studies were searched in following electronic databases: PubMed/Medline, Embase, Web of Science, and Google Scholar.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Study eligibility criteria: &lt;/strong&gt;Inclusion criteria consisted of observational quantitative articles (cohort, cross-sectional, case-control studies) in English that evaluated CKD in children. We excluded studies without reported data findings, case studies with fewer than 50 individuals and conducted with the same cohort.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Participants and interventions: &lt;/strong&gt;Children and adolescents aged 0 to 18 years old with CKD.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Study appraisal and synthesis methods: &lt;/strong&gt;This research did not aim to evaluate the quality of individual studies, since the main objective of a scoping review is to map the evidence and identify strengths and weaknesses. We conducted a scoping review structured using the methodology developed by Arksey and O'Malley expanded by Levac et al. to map the existing literature. The Preferred Reporting Items for Systematic Reviews and Meta-Analyses for Scoping Reviews (PRISMA-ScR) extension were adopted to increase methodological rigor. Two coders reviewed articles for descriptive information to create summary tables comparing variables of interest.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;Fifteen studies met inclusion criteria for this scoping review. Baseline clinical characteristics of individuals were analysed, with 889 from LMICs and 2564 from high-income countries (HICs). Inequality in access to treatment for pediatric patients with CKD between HICs and LMICs was evident.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Limitations: &lt;/strong&gt;Scoping reviews typically have limitations due to their broad research focus and lack of in-depth analysis of a specific problem; therefore, a meta-analysis is not possible. We limited the included studies to those published in English to avoid translation/interpretation errors. Finally, information biases may be present since the data were mostly extracted from observational studies based on secondary information sources.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusions and implications of key findings: &lt;/strong&gt;Future studies should:1) Focus on standardizing variable definitions and measurement to reduce heterogeneity in the presentation of results; 2) Explore barriers and facilitators to a","PeriodicalId":19735,"journal":{"name":"Pediatric Nephrology","volume":" ","pages":"4393-4404"},"PeriodicalIF":2.5,"publicationDate":"2026-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13672459/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148164038","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}
引用次数: 0
Impact of post-filter ionized calcium target range on circuit survival and citrate-related complications in pediatric continuous kidney replacement therapy. 儿童持续肾替代治疗中滤后离子钙靶范围对循环生存和柠檬酸盐相关并发症的影响。
IF 2.5 3区 医学
Pediatric Nephrology Pub Date : 2026-12-01 Epub Date: 2026-07-08 DOI: 10.1007/s00467-026-07440-1
Muhterem Duyu, Ayşe Aşık
{"title":"Impact of post-filter ionized calcium target range on circuit survival and citrate-related complications in pediatric continuous kidney replacement therapy.","authors":"Muhterem Duyu, Ayşe Aşık","doi":"10.1007/s00467-026-07440-1","DOIUrl":"10.1007/s00467-026-07440-1","url":null,"abstract":"<p><strong>Background: </strong>Regional citrate anticoagulation (RCA) is the preferred strategy for continuous kidney replacement therapy in children; however, the optimal post-filter ionized calcium target remains uncertain. Lower targets may increase anticoagulation but raise citrate exposure and metabolic complications. We aimed to compare anticoagulation efficacy and metabolic safety between a low-target (0.25-0.35 mmol/L) and a high-target (0.30-0.40 mmol/L) post-filter ionized calcium protocol in critically ill children.</p><p><strong>Methods: </strong>This retrospective cohort study included critically ill children receiving continuous veno-venous hemodiafiltration with citrate as the pre-filter anticoagulation solution at a tertiary pediatric intensive care unit over a 4-year period. A total of 87 patients (42 low-target, 45 high-target) and 154 circuits (71 versus 83) were analyzed. The primary outcome was circuit survival (CS). Secondary outcomes included citrate dose, citrate load, and RCA-related complications. Continuous variables were analyzed using the Mann-Whitney U test, and CS was assessed with Cox regression. Linear mixed models evaluated citrate changes, and generalized estimating equations analyzed metabolic outcomes.</p><p><strong>Results: </strong>Median CS was comparable between groups (49 versus 48 h, p = 0.76) as was the survival of clotted circuits (41 versus 40 h, p = 0.70) and circuit clotting rates were similar (21.1% versus 24.1%, p = 0.70). The low-target group had higher median citrate dose (2.9 versus 2.6 mmol/L, p < 0.001), citrate load (0.76 versus 0.72 mmol/kg/h, p = 0.03), and more frequent hypocalcemia (17.5% versus 12.9%, p = 0.01), metabolic alkalosis (31.9% versus 22.8%, p < 0.001), and citrate accumulation (24.5% versus 15.4%, p < 0.001). Linear mixed models showed a persistently higher citrate dose and citrate load in the low-target group (all p < 0.001). Generalized estimating equations demonstrated increased odds of hypocalcemia (odds ratio 1.47, p = 0.01) and citrate accumulation (odds ratio 1.93, p < 0.001) in the low-target group.</p><p><strong>Conclusions: </strong>Raising the target of post-filter ionized calcium from 0.25-0.35 to 0.30-0.40 mmol/L reduced citrate exposure and metabolic complications without compromising CS.</p><p><strong>Trial registration: </strong>Retrospectively registered.</p>","PeriodicalId":19735,"journal":{"name":"Pediatric Nephrology","volume":" ","pages":"4547-4559"},"PeriodicalIF":2.5,"publicationDate":"2026-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13672384/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148405419","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}
引用次数: 0
Atypical renal phenotype with tubular proteinuria and hypercalciuria in siblings with nail-patella syndrome: evidence for a dual genetic diagnosis. 不典型肾表型伴管状蛋白尿和高钙尿症的兄弟姐妹与指甲-髌骨综合征:双基因诊断的证据。
IF 2.5 3区 医学
Pediatric Nephrology Pub Date : 2026-12-01 Epub Date: 2026-07-03 DOI: 10.1007/s00467-026-07446-9
Geneviève Benoit, Philippe M Campeau, Mélissa Fiscaletti, Valancy Miranda, Camille Laroche, Alexandra Cambier
{"title":"Atypical renal phenotype with tubular proteinuria and hypercalciuria in siblings with nail-patella syndrome: evidence for a dual genetic diagnosis.","authors":"Geneviève Benoit, Philippe M Campeau, Mélissa Fiscaletti, Valancy Miranda, Camille Laroche, Alexandra Cambier","doi":"10.1007/s00467-026-07446-9","DOIUrl":"10.1007/s00467-026-07446-9","url":null,"abstract":"<p><p>Nail-patella syndrome (NPS) is an autosomal dominant disorder caused by LMX1B mutations and typically associated with glomerular proteinuria. We report three brothers carrying a maternally inherited heterozygous LMX1B mutation (NM_001174147.2: c.309C > G (p.Cys103Trp)), all presenting with classical skeletal features of NPS. Two siblings developed early-onset proteinuria predominantly composed of low-molecular-weight proteins, hypercalciuria, and ophthalmologic abnormalities including cataracts and glaucoma; one also exhibited nephrocalcinosis. Further genetic analysis identified a hemizygous OCRL pathogenic mutation (NM_000276.4: c.2209G > A (p.Glu737Lys)) in the two affected brothers but not in the third sibling, who had no renal involvement. This intrafamilial discordance supports a dual genetic diagnosis. Our findings emphasize the importance of reconsidering the initial diagnosis when clinical features are atypical and highlight the value of comprehensive genetic testing in patients with unusual renal presentations.</p>","PeriodicalId":19735,"journal":{"name":"Pediatric Nephrology","volume":" ","pages":"4413-4415"},"PeriodicalIF":2.5,"publicationDate":"2026-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148376398","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}
引用次数: 0
Can clinician preferences alone guide implementable CDS tool design to measure pediatric CKD risk after preterm birth? 临床医生的偏好是否可以单独指导可实施的CDS工具设计,以测量早产后儿童CKD的风险?
IF 2.5 3区 医学
Pediatric Nephrology Pub Date : 2026-12-01 Epub Date: 2026-07-18 DOI: 10.1007/s00467-026-07483-4
Xiang Lin, Yanling Huang, Shuting Liu, Caixia Qiu
{"title":"Can clinician preferences alone guide implementable CDS tool design to measure pediatric CKD risk after preterm birth?","authors":"Xiang Lin, Yanling Huang, Shuting Liu, Caixia Qiu","doi":"10.1007/s00467-026-07483-4","DOIUrl":"10.1007/s00467-026-07483-4","url":null,"abstract":"","PeriodicalId":19735,"journal":{"name":"Pediatric Nephrology","volume":" ","pages":"4731"},"PeriodicalIF":2.5,"publicationDate":"2026-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148497807","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}
引用次数: 0
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