Pediatric Nephrology最新文献

{"title":"Association of COVID-19 vaccination with relapsed nephrotic syndrome and new onset nephrotic syndrome in children.","authors":"Dayna Mazza, Elizabeth Ward, Spandana Makeneni, Jarcy Zee, Benjamin Laskin, Michelle Denburg","doi":"10.1007/s00467-025-06778-2","DOIUrl":"10.1007/s00467-025-06778-2","url":null,"abstract":"<p><strong>Background: </strong>Several case reports describe new onset or relapsed nephrotic syndrome (NS) after COVID-19 mRNA vaccination. However, there have been no systematic studies in children.</p><p><strong>Methods: </strong>In this single-center, retrospective cohort study, we used our electronic health record registry to identify patients with NS who received ≥ 1 dose of COVID-19 vaccine from 12/2020 to 12/2022. For each patient, we determined number of relapses in the 180 days pre- and 60 days post-vaccination. Conditional logistic regression was used to assess risk of relapse after vaccination. Linear regression was used to estimate the mean difference between individual-level post- and pre-vaccine relapse rates.</p><p><strong>Results: </strong>Ninety-five patients with relapsing NS were included (median age 12 years, 43% female). Their clinical phenotype was as follows: 33% infrequent relapsing, 52% frequently relapsing (FR)/steroid-dependent (SD)/secondarily steroid responsive (SSR), and 16% steroid-resistant. Twenty-five patients (26%) relapsed in the pre-vaccine period, 17 (18%) had ≥ 1 relapse post-vaccination, and 78 (82%) had no relapse documented after COVID-19 vaccination. There was no significant difference in the risk of relapse after versus before vaccination (odds ratio 0.43, p = 0.08), and no significant difference in relapse rates after versus before vaccination (mean difference 0.08 per 100 patient-days, p = 0.39), overall or by phenotype. Of post-vaccine relapses, 94% occurred among the FR/SD/SSR group. Five patients met criteria for new onset NS presenting ≤ 60 days after receipt of the COVID-19 vaccine.</p><p><strong>Conclusions: </strong>In a systematic pre/post comparison of individual-level relapse frequency, we found no significant difference in risk or rates of relapse after COVID-19 vaccination in children with NS.</p>","PeriodicalId":19735,"journal":{"name":"Pediatric Nephrology","volume":" ","pages":"2855-2862"},"PeriodicalIF":2.6,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144030751","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 acute kidney injury is associated with impairment in nicotinamide adenine dinucleotide (NAD+) metabolism.","authors":"Amanda J Clark, Brenda Mendoza Flores, Marie Christelle Saade, Kyle Q Vu, Isaac J Pence, Anders Berg, Samir M Parikh","doi":"10.1007/s00467-025-06791-5","DOIUrl":"10.1007/s00467-025-06791-5","url":null,"abstract":"<p><strong>Background: </strong>Acute kidney injury (AKI) is highly prevalent among hospitalized children, but there is no treatment. Impaired de novo nicotinamide adenine dinucleotide (NAD+) biosynthesis measured via elevation of the urine quinolinic acid-to-tryptophan ratio (uQ:T) is a feature of AKI that has been described in preclinical models and humans with AKI. Small prospective trials to restore NAD+ abundance with NAD+ precursor supplementation have shown promise in the prevention and treatment of AKI. It is not known whether pediatric patients also develop suppression of NAD+ biosynthesis during AKI, but such information will be critical before children can be included in NAD+ -based clinical trials to treat or prevent AKI.</p><p><strong>Methods: </strong>An observational cross-sectional study was performed on convenience urine samples from children hospitalized in a tertiary care children's hospital. Samples were split into five groups: outpatient controls, floor controls, ICU controls, floor AKI, and ICU AKI. Clinical data were collected from the medical record, and metabolites were measured using targeted mass spectrometry. Patients with AKI were compared to their respective controls. A multivariate linear regression was used to assess whether demographic variables were independently associated with uQ:T, and odds of AKI were assessed in serial uQ:T tertiles using multivariate logistic regression models that adjusted for patient variables.</p><p><strong>Results: </strong>Sixty-nine control patients (39 outpatient, 10 floor, and 20 ICU controls) and 22 AKI patients (12 floor and 10 ICU) were enrolled. uQ:T was elevated in patients with AKI compared to their respective controls. No demographic variables were independently associated with uQ:T, and when adjusting for patient demographic and clinical variables, the odds of AKI increased serially with uQ:T tertile.</p><p><strong>Conclusions: </strong>Elevated uQ:T is a feature of pediatric AKI. The present results warrant further exploration in observational and potentially interventional studies with NAD+ precursor therapies.</p>","PeriodicalId":19735,"journal":{"name":"Pediatric Nephrology","volume":" ","pages":"2967-2972"},"PeriodicalIF":2.6,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144037646","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":"Response to \"Improving early detection of kidney dysfunction in preterm very low birth weight infants: the need for a multi-factorial research approach and ongoing monitoring\".","authors":"Hung-Yang Chang","doi":"10.1007/s00467-025-06850-x","DOIUrl":"10.1007/s00467-025-06850-x","url":null,"abstract":"","PeriodicalId":19735,"journal":{"name":"Pediatric Nephrology","volume":" ","pages":"3007"},"PeriodicalIF":2.6,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144266899","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":"Past and future in vitro and in vivo approaches toward circulating factors and biomarkers in idiopathic nephrotic syndrome.","authors":"Mara S Guaragna, Fernanda M S Casimiro, Patrícia Varela, Luciana de S Feltran, Andreia Watanabe, Precil D M M Neves, João B Pesquero, Vera M S Belangero, Paulo C K Nogueira, Luiz F Onuchic","doi":"10.1007/s00467-024-06643-8","DOIUrl":"10.1007/s00467-024-06643-8","url":null,"abstract":"<p><p>Predicting the risks of progression to chronic kidney disease (CKD) stage 5 in idiopathic nephrotic syndrome (NS) and recurrence of the disease (rNS) following kidney transplantation (KT) is a key assessment to provide essential management information. NS has been categorized etiologically as genetic and immune-based. A genetic cause can be identified in ~ 30% of children with steroid-resistant NS (SRNS), a finding associated with a very low risk of rNS following KT. In immune-based NS, clinical overlap is observed among steroid-sensitive NS, secondary-resistant NS, and SRNS not associated with disease-causing genetic variants (non-monogenic SRNS). While ~ 50% of SRNS patients with no identified monogenic disease respond to intensified immunosuppressive treatments, the ones that do not respond to this therapy have a high risk of progression to CKD stage 5 and post-KT rNS. Secondary-resistant patients who progress to CKD stage 5 display the highest risk of post-KT rNS. The proposed shared underlying mechanism of the immune-based NS associated with post-KT rNS is based on a systemic circulating factor (CF) that affects glomerular permeability by inducing foot process effacement and focal segmental glomerulosclerosis. However, identifying patients without a detected genetic form who will recur post-KT is a major challenge. Extensive efforts, therefore, have been made to identify CFs and biomarkers potentially capable of predicting the risk of progression to CKD stage 5 and post-KT rNS. This review discusses the in vitro and in vivo approaches employed to date to identify and characterize potential CFs and CF-induced biomarkers of recurrent NS and offers an assessment of their potential to improve outcomes of KT in this patient population.</p>","PeriodicalId":19735,"journal":{"name":"Pediatric Nephrology","volume":" ","pages":"2741-2757"},"PeriodicalIF":2.6,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143066975","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 Ca²⁺-actin-cytoskeleton axis in podocytes is an important, non-immunologic target of immunosuppressive therapy in proteinuric kidney diseases.","authors":"Agnes Hackl, Lutz T Weber","doi":"10.1007/s00467-025-06670-z","DOIUrl":"10.1007/s00467-025-06670-z","url":null,"abstract":"<p><p>The integrity of the filtration barrier of the kidney relies on the proper composition of podocyte interdigitating foot processes. Their architecture is supported by a complex actin-cytoskeleton. Following podocyte stress or injury, podocytes encounter structural changes, including rearrangement of the actin network and subsequent effacement of the foot processes. Immunosuppressive drugs, which are currently used as treatment in proteinuric kidney diseases, have been shown to exert not only immune-mediated effects. This review will focus on the direct effects of glucocorticoids, cyclosporine A, tacrolimus, mycophenolate mofetil, and rituximab on podocytes by regulation of Ca²⁺ ion channels and consecutive downstream signaling which prevent cytoskeletal rearrangements and ultimately proteinuria. In addition, the efficacy of these drugs in genetic nephrotic syndrome will be discussed.</p>","PeriodicalId":19735,"journal":{"name":"Pediatric Nephrology","volume":" ","pages":"2729-2739"},"PeriodicalIF":2.6,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143040654","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":"Silent lupus nephritis: a pediatric center experience of baseline kidney biopsies and review of the published evidence.","authors":"Asa Laestadius, Silviu Grisaru, Marinka Twilt, Thomas Renson, Tiffany Shao, Hallgrimur Benediktsson, Nadia Luca, Heinrike Schmeling, Susanne M Benseler, Lorraine A Hamiwka","doi":"10.1007/s00467-025-06737-x","DOIUrl":"10.1007/s00467-025-06737-x","url":null,"abstract":"<p><strong>Background: </strong>Silent lupus nephritis (sLN) describes the histopathological presence of nephritis in systemic lupus erythematosus (SLE) without evident clinical or biochemical kidney manifestations. Kidney biopsy practises in suspected sLN vary widely among centers. We report three cases of sLN from our center and review existing literature on sLN prevalence and the role of baseline kidney biopsies.</p><p><strong>Methods: </strong>Characteristics of three patients with childhood-onset (cSLE) sLN from our center, including clinical and laboratory features as well as kidney biopsy findings, are reported. A systematic literature review was performed to evaluate the prevalence of proliferative LN among patients with sLN. Relevant studies were identified using a predefined search strategy on Ovid, MEDLINE, EMBASE, CINAHL Plus, Scopus, and Web of Science. Publications meeting inclusion criteria and reporting baseline kidney biopsy results with histopathological classification were included.</p><p><strong>Results: </strong>Three cSLE patients with sLN from our center who underwent baseline kidney biopsies revealing class III LN in two and class II LN in one. The systematic review identified 4153 potential articles, of which 37 studies met inclusion criteria describing 639 patients with sLN; patients were aged 2-70 years. Among them, 30% had proliferative LN (class III, class IV) or class V, while 70% had class I or II LN.</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":19735,"journal":{"name":"Pediatric Nephrology","volume":" ","pages":"2837-2844"},"PeriodicalIF":2.6,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143701120","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":"Hyperglycemia and kidney outcomes in critically ill children and young adults on continuous kidney replacement therapy.","authors":"Shrea Goswami, Katja M Gist, Petter Bjornstad, Eileen Ciccia, Akash Deep, Ben Gelbart, Shina Menon, Eleonora Marinari, Nicholas J Ollberding, Dua Qutob, JangDong Seo, Danielle E Soranno, Brynna Van Wyk, Michelle C Starr","doi":"10.1007/s00467-025-06777-3","DOIUrl":"10.1007/s00467-025-06777-3","url":null,"abstract":"<p><strong>Background: </strong>There are limited studies evaluating hyperglycemia in children treated with continuous kidney replacement therapy (CKRT). We evaluated the association of hyperglycemia with kidney outcomes in critically ill children treated with CKRT for acute kidney injury (AKI) or fluid overload.</p><p><strong>Methods: </strong>Secondary analysis of the multicenter retrospective observational Worldwide Exploration of Renal Replacement Outcomes Collaborative in Kidney Disease (WE-ROCK) study (34 centers, 9 countries). Primary exposure was hyperglycemia on days 0-7 of CKRT (average serum glucose of ≥ 150 mg/dL). Average serum glucose < 150 mg/dL was defined as euglycemic. We stratified the hyperglycemic group with cut-offs ≥ 180 mg/dL, ≥ 200 mg/dL, or ≥ 250 mg/dL. The primary outcome was MAKE-90 (death by 90 days or persistent kidney dysfunction [> 125% baseline serum creatinine, or dialysis dependence]).</p><p><strong>Results: </strong>Of 985 participants, 48% (473) had average serum glucose > 150 mg/dL during days 0-7 of CKRT. There were higher rates of death in the hyperglycemic group (44% vs. 32%, p < 0.001) and longer length of stay among survivors (42 vs. 38 days, p = 0.017) compared to the euglycemic group. Those with average glucose ≥ 150 mg/dL had higher unadjusted odds of MAKE-90 (OR: 1.36, 95% CI 1.02-1.81); this finding did not remain after multivariate adjustment. Those with average glucose ≥ 180 mg/dL had higher adjusted odds of MAKE-90 (aOR: 1.44, 95% CI 1.02-2.04). In adjusted analysis, each 10 mg/dL increase in glucose was associated with 3% increased odds of MAKE-90.</p><p><strong>Conclusions: </strong>Hyperglycemia is associated with worse kidney outcomes among young persons on CKRT for AKI or fluid overload. Further studies are needed to evaluate the causality and determine appropriate glucose ranges in this high-risk population.</p>","PeriodicalId":19735,"journal":{"name":"Pediatric Nephrology","volume":" ","pages":"2957-2966"},"PeriodicalIF":2.6,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143973071","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 GFR estimation equations using creatinine, cystatin C, and their combination in pediatric hematology-oncology: no single equation is superior across subgroups.","authors":"Katelyn J Phillips, Yilun Sun, Li Tang, Andrew Pappas, Shane J Cross, Jennifer L Pauley, John McCormick, Alejandro R Molinelli, John J Bissler, Anthony M Christensen, Clinton F Stewart","doi":"10.1007/s00467-025-06765-7","DOIUrl":"10.1007/s00467-025-06765-7","url":null,"abstract":"<p><strong>Background: </strong>Accurate assessment of renal function is essential in treating pediatric patients dosed with nephrotoxic chemotherapy. The validity of the bedside Schwartz, 5-covariate St. Jude (5SJ), CKiD-CysC-U25, combined Cr-CysC-based CysPed, and the serum creatinine-BUN-cystatin C-based CKiD (CKiD Cr-CysC) equations were evaluated in pediatric hematology and oncology patients.</p><p><strong>Methods: </strong>A retrospective analysis was conducted comparing estimated glomerular filtration rate (eGFR) to measured GFR (mGFR) obtained from technetium- 99 m diethylenetriaminepentaacetic acid (^{99 m}Tc-DTPA) clearance between January 2016 and May 2022. The influence of corticosteroid use and inflammation in our patient population was evaluated for effect on serum cystatin C (CysC) concentrations and mGFR.</p><p><strong>Results: </strong>All equations agreed within 2 SD of the mean difference with mGFR, but the 5SJ equation had the smallest bias followed closely by the CysPed equation. Overall accuracy (P30) was assessed, and the 5SJ, CKiD Cr-CysC, CysPed, and CKiD-Cys-U25 exhibited comparable performance. In our patient population, we did not observe an effect of corticosteroids (cumulative dosage of > 0.5 mg/kg within the past 14 days) or the presence of inflammation (CRP > 1.2 mg/L) on cystatin C concentrations or mGFR.</p><p><strong>Conclusions: </strong>In our pediatric hematology and oncology patient population, no one estimating equation demonstrated superior accuracy and bias overall and in all subgroups. Neither corticosteroid use nor elevated CRP influenced serum CysC concentrations or eGFR.</p>","PeriodicalId":19735,"journal":{"name":"Pediatric Nephrology","volume":" ","pages":"2907-2917"},"PeriodicalIF":2.6,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144036424","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":"Urinary NGAL and renalase as non-invasive biomarkers for detection of deterioration of kidney function and kidney scarring in children with neurogenic bladder.","authors":"Anjali Srivastava, Sachit Anand, Himalaya Kumar, Jitendra Kumar Meena, Ajay Verma, Kalpana Luthra, Pankaj Hari","doi":"10.1007/s00467-025-06808-z","DOIUrl":"10.1007/s00467-025-06808-z","url":null,"abstract":"<p><strong>Background: </strong>Urinary biomarkers such as neutrophil gelatinase-associated lipocalin (NGAL) and renalase hold promise for assessing kidney health, yet their role in the pediatric neurogenic bladder (NB) remains unclear. This study evaluates their clinical utility in detecting kidney dysfunction and their association with disease severity.</p><p><strong>Methods: </strong>A cross-sectional study included 44 patients with NB and 45 age- and gender-matched healthy children (reference group). Urinary NGAL and renalase levels were measured using ELISA. Patients with NB were categorized based on glomerular filtration rate (GFR) and kidney scarring. Biomarker levels were compared using the Mann-Whitney U test, and their correlations with functional parameters (DTPA, DMSA) were assessed using Spearman's correlation.</p><p><strong>Results: </strong>Urinary NGAL and renalase levels were significantly higher in patients with NB than in the reference group (NGAL: 31.86 vs. 23.40 pg/mg creatinine, p = 0.0345; renalase: 2.75 vs. 1.76 ng/mg creatinine, p = 0.0493). Patients with NB with GFR < 60 mL/min/1.73 m² or kidney scarring had elevated NGAL (46.90 vs. 26.76 pg/mg creatinine, p = 0.0406) and renalase (3.76 vs. 1.82 ng/mg creatinine, p = 0.0050). Both biomarkers correlated inversely with GFR (NGAL: r = -0.3344, p = 0.0326; renalase: r = -0.4054, p = 0.0085) and increased with kidney scarring, suggesting their potential role in assessing kidney injury severity.</p><p><strong>Conclusions: </strong>Urinary NGAL and renalase are elevated in pediatric patients with NB, particularly in those with kidney dysfunction, and correlate with GFR and kidney scarring. These findings highlight their potential as non-invasive markers for early detection and monitoring of kidney impairment in NB. Future longitudinal studies are warranted to validate their diagnostic and prognostic utility.</p>","PeriodicalId":19735,"journal":{"name":"Pediatric Nephrology","volume":" ","pages":"2871-2877"},"PeriodicalIF":2.6,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144079198","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":"Genome sequencing identifies RMND1 as a strong candidate gene for severe prenatal kidney failure mimicking renal tubular dysgenesis associated with hyporeninism.","authors":"Luisa Marsili, Matthieu Mantecon, Christelle Arrondel, Giulia Barcia, Zahra Assouline, Olivier Gribouval, Diana Wellesley, Victoria Harrison, Pierre Marijon, Cindy Colson, Morgane Stichelbout, Marie-Claire Gubler, Corinne Antignac, Agnes Rotig, Laurence Heidet","doi":"10.1007/s00467-025-06787-1","DOIUrl":"10.1007/s00467-025-06787-1","url":null,"abstract":"<p><strong>Background: </strong>Renal tubular dysgenesis (RTD) is a severe kidney disease characterized by poor development of proximal tubules and persistent fetal anuria leading to oligohydramnios. It can be acquired during fetal life or inherited as an autosomal recessive disease associated with bi-allelic pathogenic variants in one of the genes encoding the renin-angiotensin system (RAS) components, AGT, REN, ACE, or AGTR1. Few cases of RTD remain unsolved despite the lack of fetal cause and comprehensive screening of RAS genes.</p><p><strong>Methods: </strong>We investigated a case of unsolved RTD with low renin expression by whole genome sequencing, and then screened a series of unsolved RTD by sequencing of a targeted gene panel of genes coding mitochondrial proteins. Oxidative phosphorylation complexes were studied by SDS-PAGE and immunoblotting.</p><p><strong>Results: </strong>We identified a rare homozygous variant in RMND1, a gene known to be responsible for an autosomal recessive mitochondrial disease, in a case presenting with RTD-like phenotype with low renin expression but without identified RAS disease-causing variant. We demonstrate a severe reduction of combined oxidative phosphorylation complexes I and IV subunits in this case. Next, we identified another RMND1 homozygous variant in another unsolved RTD case belonging to a consanguineous family with recurrent fetal demise.</p><p><strong>Conclusions: </strong>Our study shows that biallelic RMND1 pathogenic variants likely cause severe prenatal kidney disease presenting with RTD-like phenotype, and prompts to screen RMND1 in unelucidated severe fetal nephropathies to provide diagnosis and, ultimately, genetic counselling. In addition, these data confirm a still poorly understood link between RMND1-associated mitochondrial dysfunction and renin expression.</p>","PeriodicalId":19735,"journal":{"name":"Pediatric Nephrology","volume":" ","pages":"2823-2828"},"PeriodicalIF":2.6,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144026642","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}