Pediatric NephrologyPub Date : 2026-12-01Epub Date: 2025-09-22DOI: 10.1007/s00467-025-06973-1
Petr Ananin, Anastasiia Milovanova, Kirill Kulikov, Ekaterina Stolyarevich, Alexey Tsygin
{"title":"Adequacy and safety of pediatric native kidney biopsy using 16- and 18-gauge needles.","authors":"Petr Ananin, Anastasiia Milovanova, Kirill Kulikov, Ekaterina Stolyarevich, Alexey Tsygin","doi":"10.1007/s00467-025-06973-1","DOIUrl":"10.1007/s00467-025-06973-1","url":null,"abstract":"<p><strong>Background: </strong>The native kidney biopsy is an important diagnostic procedure in pediatric nephrology. Recent meta-analyses did not find the size of the needle as a risk factor for bleeding complications, but they were predominantly based on adult studies. There are few papers comparing the safety and core adequacy in pediatric native kidney biopsy.</p><p><strong>Methods: </strong>We present a large single-center retrospective study performed in a tertiary pediatric nephrology center. Data of children who received a real-time ultrasound-guided native kidney biopsy with a 16- or an 18-gauge needle from 2018 to 2024 were analyzed.</p><p><strong>Results: </strong>Overall, 1040 children (644 boys) were included, with a median age of 10.25 (6.6; 14.23) years. One hundred three (9.9%) patients experienced bleeding complications. Perinephric hematoma was reported in 86 (8.3%) cases, gross hematuria in 18 (1.7%), and 3 (0.3%) children required transfusion. Multivariate regression analysis revealed the needle size (OR for 16-gauge 2.06, 95% CI 1.22-3.47, p = 0.007) as a risk factor for complications in the overall cohort and in children under 12 years old. The needle size did not affect complication rates in children aged 12-18 years. Inadequate kidney cores were reported in 37 (4.5%) cases; OR for 18-gauge needles (OR 5.08, 95% CI 1.07-24.21, p = 0.041) was found.</p><p><strong>Conclusions: </strong>Use of a 16-gauge needle reduces the risk of obtaining an inadequate core in comparison with an 18-gauge. An 18G needle has a safety advantage over a 16G needle in children younger than 12 years. A 16G needle is as safe as an 18G needle and should be used for native kidney biopsy in children older than 12 years.</p>","PeriodicalId":19735,"journal":{"name":"Pediatric Nephrology","volume":" ","pages":"151-156"},"PeriodicalIF":2.6,"publicationDate":"2026-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145125714","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}
Pediatric NephrologyPub Date : 2026-12-01Epub Date: 2025-09-28DOI: 10.1007/s00467-025-06976-y
Zoha Mirza, Laiba Fiaz, Muhammad Irfan
{"title":"Letter to the Editor: Long-term kidney outcomes in patients with Kabuki syndrome.","authors":"Zoha Mirza, Laiba Fiaz, Muhammad Irfan","doi":"10.1007/s00467-025-06976-y","DOIUrl":"10.1007/s00467-025-06976-y","url":null,"abstract":"","PeriodicalId":19735,"journal":{"name":"Pediatric Nephrology","volume":" ","pages":"261"},"PeriodicalIF":2.6,"publicationDate":"2026-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145186471","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":"Comparison of different equations for estimating the glomerular filtration rate in pediatric kidney transplant recipients.","authors":"Paphawadee Sukboonthong, Julaporn Pooliam, Maturin Jantongsree, Achra Sumboonnanonda, Anirut Pattaragarn, Suroj Supavekin, Nuntawan Piyaphanee, Kraisoon Lomjansook, Yarnarin Thunsiribuddhichai, Intraparch Tinnabut, Nuttiporn Khueankong, Thanaporn Chaiyapak","doi":"10.1007/s00467-025-06942-8","DOIUrl":"10.1007/s00467-025-06942-8","url":null,"abstract":"<p><strong>Background: </strong>Accurate glomerular filtration rate estimation (eGFR) is essential for managing pediatric kidney transplant recipients. Given the physiology of pediatric patients receiving adult-donor kidneys, identifying the most appropriate plasma creatinine (PCr)-based formula-pediatric or adult-specific-is crucial.</p><p><strong>Methods: </strong>This cross-sectional study included pediatric kidney transplant recipients (age 1-18 years) who received adult-donor kidneys. We compared agreement thresholds of various pediatric and adult PCr-based GFR equations with CKiD 2012 combined PCr‒cystatin C (PCr-CystC) equation via intraclass correlation coefficients (ICCs), concordance correlation coefficients (CCCs), total deviation index (TDI), P30 performance metric (P30), Bland-Altman plots, and receiver-operating characteristic (ROC) analysis. Correlation between CKiD under 25 (U25) PCr-CystC and reference CKiD 2012 equation was also evaluated.</p><p><strong>Results: </strong>One hundred twenty samples were collected from 23 recipients (mean age = 14.2 ± 3.4 years) and donors (mean age = 31.7 ± 10.0 years). Schwartz-Lyon equation demonstrated the highest performance with the reference (ICC = 0.913, CCC = 0.911, TDI = 14.0 mL/min/1.73 m<sup>2</sup>, P30 = 99.2%). U25 (ICC = 0.922, CCC = 0.882, P30 = 93.3%), full age spectrum (FAS)-height (ICC = 0.897, CCC = 0.877, P30 = 96.7%), and Bedside Schwartz equations (ICC = 0.850, CCC = 0.819, P30 = 89.2%) showed comparable performance. Bland-Altman plots revealed proportional bias (p < 0.05), leading to ROC analysis, which identified eGFR < 70 mL/min/1.73 m<sup>2</sup> for Schwartz-Lyon, U25, and FAS-height, and < 60 mL/min/1.73 m<sup>2</sup> for Bedside Schwartz as optimal agreement thresholds, beyond which each equation showed increased bias. Subgroup analyses also showed better performance in patients aged 10-18 years. Additionally, U25 PCr-CystC equation showed excellent agreement with the reference (ICC = 0.993, CCC = 0.990, P30 = 100%).</p><p><strong>Conclusions: </strong>Schwartz-Lyon equation demonstrated the highest performance among PCr-based equations with the reference in pediatric kidney transplant recipients, particularly when eGFR was < 70 mL/min/1.73 m<sup>2</sup> and in patients aged 10-18 years. U25 PCr-CystC equation showed best overall agreement with the reference and should be preferred where CystC measurement is feasible.</p>","PeriodicalId":19735,"journal":{"name":"Pediatric Nephrology","volume":" ","pages":"203-216"},"PeriodicalIF":2.6,"publicationDate":"2026-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12686102/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145125474","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}
Pediatric NephrologyPub Date : 2026-12-01Epub Date: 2025-09-24DOI: 10.1007/s00467-025-06962-4
Lucinda J Weaver, Samuel J Gentle, Arie Nakhmani, Fazlur Rahman, Namasivayam Ambalavanan, Vivek V Shukla, Christine Stoops, David Askenazi, Colm P Travers
{"title":"Early fluid status and severe intraventricular hemorrhage or death in extremely preterm infants.","authors":"Lucinda J Weaver, Samuel J Gentle, Arie Nakhmani, Fazlur Rahman, Namasivayam Ambalavanan, Vivek V Shukla, Christine Stoops, David Askenazi, Colm P Travers","doi":"10.1007/s00467-025-06962-4","DOIUrl":"10.1007/s00467-025-06962-4","url":null,"abstract":"<p><strong>Background: </strong>Measures of early postnatal fluid balance may be associated with severe intraventricular hemorrhage (sIVH) and/or death in extremely preterm infants in the first postnatal week.</p><p><strong>Methods: </strong>A single-center, retrospective cohort study including actively treated inborn infants weighing ≥ 400 g and 22-27 weeks' gestation from 2014-2021. Longitudinal mixed effect models compared daily fluid balance covariates including serum sodium, percent weight change, total fluid intake, urine output, and fluid balance (daily weight - birth weight /birth weight × 100) among infants with and without sIVH or death, during the first seven postnatal days. Multiple regression and machine learning models were developed to predict sIVH and/or death. Variables that were incorporated into the models included measures of fluid balance, gestational age, birth weight, antenatal corticosteroids, multiples, and sex.</p><p><strong>Results: </strong>We included 932 infants with mean ± SD gestational age of 25w2d ± 11d and birth weight of 746 ± 212 g of whom 195 (20.9%) had sIVH and/or death. Lower percentage weight change (p < 0.001), higher total fluid intake (p = 0.007), higher sodium (p = 0.007), and positive early fluid balance (p < 0.001) were associated with sIVH and/or death even after adjustment for baseline characteristics. The area under the receiver-operating curve (AUC) for regression models predicting sIVH and/or death incorporating baseline characteristics improved after adding fluid balance measures from 0.75 to 0.80, while the AUC for machine learning models improved from 0.72 to 0.84.</p><p><strong>Conclusions: </strong>In extremely preterm infants, early fluid status measures were associated with risk of sIVH and/or death. The addition of fluid status measures improves the performance of models predicting sIVH and/or death.</p>","PeriodicalId":19735,"journal":{"name":"Pediatric Nephrology","volume":" ","pages":"239-247"},"PeriodicalIF":2.6,"publicationDate":"2026-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12685979/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145131615","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}
Pediatric NephrologyPub Date : 2026-06-01Epub Date: 2025-09-25DOI: 10.1007/s00467-025-06956-2
Chiara Casuscelli, Elisa Longhitano, Giovanni Conti, Veronica Maressa, Silvia Di Carlo, Claudia Spinella, Luigi Peritore, Vincenzo Calabrese, Domenico Santoro
{"title":"New prognostic markers for IgA nephropathy in children.","authors":"Chiara Casuscelli, Elisa Longhitano, Giovanni Conti, Veronica Maressa, Silvia Di Carlo, Claudia Spinella, Luigi Peritore, Vincenzo Calabrese, Domenico Santoro","doi":"10.1007/s00467-025-06956-2","DOIUrl":"10.1007/s00467-025-06956-2","url":null,"abstract":"<p><p>IgA nephropathy (IgAN) is the most common glomerulonephritis worldwide, with significant implications for adults and children. The disease progresses variably, from asymptomatic hematuria to severe glomerulonephritis, and around 10-20% of children diagnosed in childhood develop stage 5 chronic kidney disease (CKD 5) within 20 years. Identifying reliable prognostic markers is crucial for early intervention and long-term management. The International IgAN Prediction Tool combines clinical, laboratory, and histological data and has been adapted for pediatric use. It is highly accurate in predicting CKD 5. Markers such as the Oxford MEST-C score, proteinuria, eGFR, and blood pressure assist in risk stratification. Emerging biomarkers, including the IgA/C3 ratio, galactose-deficient IgA1, soluble CD89, and urinary cytokines like IL-6 and TGF-β1, show potential for predicting disease progression. Although promising, further research is needed to validate these biomarkers in pediatric populations and refine predictive tools for IgAN progression. These advances will guide targeted therapies and improve long-term renal outcomes in children.</p>","PeriodicalId":19735,"journal":{"name":"Pediatric Nephrology","volume":" ","pages":"1583-1588"},"PeriodicalIF":2.6,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145138291","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}
Pediatric NephrologyPub Date : 2026-06-01Epub Date: 2025-12-09DOI: 10.1007/s00467-025-07079-4
Rupesh Raina, Keval Yerigeri, Kush Doshi, Amanda Osagie-Ogbeide, Imad Haq, Sydney Smith, Priyanka Khandelwal, Christoph Licht, Carla Nester, Olivia Boyer
{"title":"Incidence and severity of extrarenal manifestations and outcomes in pediatric hemolytic uremic syndrome: a retrospective cohort study.","authors":"Rupesh Raina, Keval Yerigeri, Kush Doshi, Amanda Osagie-Ogbeide, Imad Haq, Sydney Smith, Priyanka Khandelwal, Christoph Licht, Carla Nester, Olivia Boyer","doi":"10.1007/s00467-025-07079-4","DOIUrl":"10.1007/s00467-025-07079-4","url":null,"abstract":"<p><strong>Background: </strong>Pediatric hemolytic uremic syndrome (HUS) is characterized by acute kidney injury (AKI), thrombocytopenia, and microangiopathic hemolytic anemia. While kidney involvement is well recognized, extrarenal manifestations of HUS remain poorly characterized.</p><p><strong>Methods: </strong>We conducted a retrospective cohort study using TriNetX, a global electronic health record database, to examine the incidence of extrarenal complications and clinical outcomes in children (< 18 years) with HUS. Patients were identified via ICD-10-CM codes from 2000 to 2024. Primary outcomes included the 1-year cumulative incidence of extrarenal manifestations, mortality, and kidney disease progression.</p><p><strong>Results: </strong>A total of 2362 pediatric patients with HUS were included (mean age 4.04 ± 3.65 years; 47.8% male). At 1 year, hypertensive disease was the most prevalent extrarenal manifestation (24.9%), followed by respiratory, gastrointestinal, neurologic, and cardiovascular complications. Patients with \"other\" HUS (ICD-10 D59.39) experienced higher rates of extrarenal disease compared to infection-associated or hereditary HUS. Mortality was 2.2% at 1 year, with most deaths occurring within 3 months of diagnosis. AKI occurred in 34.0%, chronic kidney disease (CKD) in 14.6%, and kidney failure in 4.0% of patients. One-year hospitalization, ICU admission, and mechanical ventilation rates were 34.8%, 6.7%, and 5.8%, respectively. After the publication of the 2015 treatment guidelines for HUS, eculizumab use rose significantly; 12.7% of patients received plasmapheresis.</p><p><strong>Conclusions: </strong>In our cohort, pediatric HUS was associated with significant short- and medium-term extrarenal morbidity. These findings highlight the need for vigilant long-term follow-up and refined treatment strategies targeting extrarenal disease burden in pediatric HUS.</p>","PeriodicalId":19735,"journal":{"name":"Pediatric Nephrology","volume":" ","pages":"1693-1704"},"PeriodicalIF":2.6,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145708882","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}
Pediatric NephrologyPub Date : 2026-06-01Epub Date: 2026-01-13DOI: 10.1007/s00467-025-07120-6
Deirdre O'Sullivan, Nabil Melhem, Manish D Sinha
{"title":"N-terminal pro B-type natriuretic peptide levels in a paediatric haemodialysis cohort.","authors":"Deirdre O'Sullivan, Nabil Melhem, Manish D Sinha","doi":"10.1007/s00467-025-07120-6","DOIUrl":"10.1007/s00467-025-07120-6","url":null,"abstract":"<p><strong>Background: </strong>Accurate volume assessment is essential in the management of children on dialysis as excess volume is a key cause of arterial hypertension and is associated with the development of hypertension-mediated organ injury. Our objective was to describe NT-proBNP concentrations in a cohort of children receiving in-centre chronic intermittent haemodialysis with preserved systolic cardiac function and to evaluate relevant associations.</p><p><strong>Methods: </strong>This was a retrospective study including prevalent children aged < 18 years who were established on IHD and had preserved systolic cardiac function.</p><p><strong>Results: </strong>There were 24 children, mean age 10.3 ± 5.8 years, of whom 8 had urine output < 150 mL/day, median dialysis vintage 130.3 ± 364.8 days. There were 161 post-IHD NT-proBNP measurements performed, of which 130 measurements (80.7%) were abnormal when defined as a concentration above 598 ng/L; median (IQR) 2046 (794, 5275) ng/L [Log 3.34 ± 0.58 ng/L]. Children with urine output > 150 mL/day had a mean ± SD, log NT-proBNP of 3.25 ± 0.51 ng/L and those with < 150 mL/day 3.43 ± 0.65 ng/L (P = 0.047). Following multivariable regression analysis, log NT-proBNP positively associated with systolic blood pressure z-score (SBP<sub>z-POST</sub>) (β = 0.15, P < 0.01) and non-White ethnicity (β = 0.10, P = 0.02) and negatively with UO > 150 mL/day (β = -0.28, P < 0.01) and haemoglobin concentrations (β = -0.01, P = 0.01). There was no significant association between log NT-proBNP with primary kidney disease, sex or interdialytic weight gain.</p><p><strong>Conclusions: </strong>We observed most post-haemodialysis NT-proBNP measurements to be abnormal despite preserved systolic cardiac function in children established on IHD. The utility of a single measurement remains limited and serial measurements and improved understanding of reasons for variation in intra-patient measurements may be more useful when used alongside standard clinical parameters in this population.</p>","PeriodicalId":19735,"journal":{"name":"Pediatric Nephrology","volume":" ","pages":"1797-1802"},"PeriodicalIF":2.6,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145966787","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}
Pediatric NephrologyPub Date : 2026-06-01Epub Date: 2026-01-10DOI: 10.1007/s00467-025-07113-5
Samara M Mendez Nunez, Samantha Brokenshire, Poyyapakkam Srivaths, Joseph Angelo, Shweta Shah, Mini Michael
{"title":"Evaluation of ravulizumab trough levels in pediatric complement-mediated hemolytic uremic syndrome in remission.","authors":"Samara M Mendez Nunez, Samantha Brokenshire, Poyyapakkam Srivaths, Joseph Angelo, Shweta Shah, Mini Michael","doi":"10.1007/s00467-025-07113-5","DOIUrl":"10.1007/s00467-025-07113-5","url":null,"abstract":"<p><strong>Background: </strong>Ravulizumab drug monitoring has not been explored for maintenance therapy in patients with complement-mediated (atypical) hemolytic uremic syndrome (aHUS). Phase III trials suggest the standard dosing regimen provides troughs about threefold higher than needed to suppress complement activity. We describe the use of ravulizumab in pediatric patients with aHUS in remission, exploring potential modified dosing strategies based on serum drug levels and complement markers.</p><p><strong>Methods: </strong>This single-center, retrospective cohort study included pediatric patients with aHUS in remission receiving outpatient ravulizumab infusions between June 30, 2023, and March 31, 2024, with at least one ravulizumab trough. Patients received a standard (SR) or a modified (MR) regimen, determined by the nephrologist. The primary outcome was to describe troughs and corresponding AH50 for patients on at least two equal doses. Secondary outcomes included comparison of troughs by regimen, intra-patient variability, possible adverse drug events (pADE), and drug costs.</p><p><strong>Results: </strong>Nine patients were included. The mean ravulizumab trough level was 399.1 (± 107.3) mcg/mL. All patients exceeded the goal of 175 mcg/mL and achieved AH50 < 10%. Four patients (44%) received ravulizumab according to a MR. No difference was observed in ravulizumab trough levels between SR and MR groups (P = 0.67). Patients with multiple troughs showed low intra-patient variability (CV < 25%). pADE rates were similar across regimens, and MR was associated with lower drug costs.</p><p><strong>Conclusions: </strong>Individualized maintenance regimens of ravulizumab based on trough and complement monitoring appear safe and effective while reducing drug costs. Further study is needed to define the optimal ravulizumab maintenance dosing strategy.</p>","PeriodicalId":19735,"journal":{"name":"Pediatric Nephrology","volume":" ","pages":"1753-1760"},"PeriodicalIF":2.6,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145944703","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}
Pediatric NephrologyPub Date : 2026-06-01Epub Date: 2026-01-23DOI: 10.1007/s00467-026-07151-7
Bshara Mansour, Katharina Lemberg, Ronen Schneider, Ken Saida, Izzeldin Elmubarak, Seyoung Yu, Kirollos Yousef, Camille Nicolas Frank, Korbinian M Riedhammer, Muhammad Yasir Zahoor, Caroline M Kolvenbach, Lea M Merz, Nils D Mertens, Aaron Bao, Daanya Salmanullah, Gina Kalkar, Selina Hölzel, Elena Zion, Daniel Marchuk, Kraisoon Lomjansook, Alina Braun, Gijs A C Franken, Loai A Eid, Hazem Subhi H Awad, Muna Al Saffar, Neveen A Soliman, Marwa M Nabhan, Jameela A Kari, Sherif El Desoky, Mohamed A Shalaby, Said Ooda, Hanan M Fathy, Shrikant Mane, Shirlee Shril, Michael J G Somers, Florian Buerger, Friedhelm Hildebrandt
{"title":"Identification of monogenic variants in steroid-resistant and steroid-sensitive nephrotic syndrome.","authors":"Bshara Mansour, Katharina Lemberg, Ronen Schneider, Ken Saida, Izzeldin Elmubarak, Seyoung Yu, Kirollos Yousef, Camille Nicolas Frank, Korbinian M Riedhammer, Muhammad Yasir Zahoor, Caroline M Kolvenbach, Lea M Merz, Nils D Mertens, Aaron Bao, Daanya Salmanullah, Gina Kalkar, Selina Hölzel, Elena Zion, Daniel Marchuk, Kraisoon Lomjansook, Alina Braun, Gijs A C Franken, Loai A Eid, Hazem Subhi H Awad, Muna Al Saffar, Neveen A Soliman, Marwa M Nabhan, Jameela A Kari, Sherif El Desoky, Mohamed A Shalaby, Said Ooda, Hanan M Fathy, Shrikant Mane, Shirlee Shril, Michael J G Somers, Florian Buerger, Friedhelm Hildebrandt","doi":"10.1007/s00467-026-07151-7","DOIUrl":"10.1007/s00467-026-07151-7","url":null,"abstract":"<p><strong>Background: </strong>Steroid-resistant nephrotic syndrome (SRNS) constitutes the second most common cause of chronic kidney disease (CKD) in children. A monogenic cause can be identified in approximately 25% of SRNS cases. In contrast, steroid-sensitive or steroid-dependent nephrotic syndrome (SSNS/SDNS) is typically attributed to multifactorial or immunological causes and rarely linked to monogenic etiology.</p><p><strong>Methods: </strong>We performed exome sequencing (ES) in 237 families, including 183 with SRNS and 54 with SSNS/SDNS.</p><p><strong>Results: </strong>A (likely) pathogenic variant in a known SRNS gene was identified in 29/183 individuals with SRNS (15.8%). Additionally, 6/183 (3.3%) individuals with SRNS carried pathogenic variants in phenocopy genes-genes associated with diseases that clinically mimic SRNS. The diagnostic yield was significantly higher in individuals with ≥ 50 Mb homozygosity-by-descent (HBD) (44.7% vs. 8.5%) and in those with SRNS disease onset before 1 year of age (41.9%). In individuals with SSNS/SDNS, we found a likely causative variant in only 1 of 54 probands.</p><p><strong>Conclusions: </strong>A genetic cause was established in 19.1% of SRNS patients (15.8% in known SRNS genes and 3.3% in phenocopy genes), but only 1.9% of non-steroid-resistant cases.</p>","PeriodicalId":19735,"journal":{"name":"Pediatric Nephrology","volume":" ","pages":"1663-1675"},"PeriodicalIF":2.6,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146030563","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}