ArticlePediatric nephrology (Berlin, Germany)2017
Clinical and molecular aspects of distal renal tubular acidosis in children.
Article in Pediatric nephrology (Berlin, Germany), 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 58 papers, 1 of them a synthesis that pooled it.
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Who cites it
58 citing papers in PubMed, 1 synthesis or guideline pooled it, 102 citations in OpenAlex.
- Hyperammonemia associated with distal renal tubular acidosis or urinary tract infection: a systematic review.Pediatric nephrology (Berlin, Germany) · 2018Pooled it
- Clinical and genetic spectrum of distal renal tubular acidosis in children: findings from Indian tubular disorders registry.Pediatric nephrology (Berlin, Germany) · 2026Article
- Whole exome sequencing identifies three novel variants and establishes the molecular diagnosis of ATP6V0A4-related distal renal tubular acidosis in a lebanese infant.Molecular biology reports · 2026Article
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- Failure to thrive in children with tubulopathies.Pediatric nephrology (Berlin, Germany) · 2026Review
- scDifformer: diffusion-based post-training for virtual cell modeling across large-scale single-cell data.Nucleic acids research · 2026Article
- Molecular genetics and long-term outcomes of primary distal renal tubular acidosis in Asia.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2026Observational
- ATP6V1B1-Associated Inherited Distal Renal Tubular Acidosis in Children: Insights from a Literature Review.Children (Basel, Switzerland) · 2026Review
- Identification of novel pathogenic mutations inRenal failure · 2025Article
- Etiology and outcomes of primary renal tubular acidosis.Pediatric nephrology (Berlin, Germany) · 2025Article
- Genetic background of neonatal hypokalemia.Pediatric nephrology (Berlin, Germany) · 2025Review
- A case report and literature review of primary distal renal tubular acidosis resulting from a mutation inFrontiers in pediatrics · 2025Article
- Distal renal tubular acidosis as a rare complication of vesicoureteral reflux in children: a case report and literature review.CEN case reports · 2024Review
- Neonatal Onset Distal Renal Tubular Acidosis: Description of Two Novel Variants on theJournal of pediatric genetics · 2024Article
- Investigation of renal tubular function with newly diagnosed type 1 diabetes mellitus during diabetic ketoacidosis.Diabetology & metabolic syndrome · 2024Article
- Insight into prevalence, etiology, and modalities of pediatric chronic dialysis: a comprehensive nationwide analysis.Pediatric nephrology (Berlin, Germany) · 2024Article
- Monogenic features of urolithiasis: A comprehensive review.Asian journal of urology · 2024Review
- Renal calcification in children with renal tubular acidosis: What a paediatrician should know.World journal of clinical pediatrics · 2023Review
- Clinical significance of hypouricemia in children and adolescents.Pediatric nephrology (Berlin, Germany) · 2023Article
- The pathophysiology of distal renal tubular acidosis.Nature reviews. Nephrology · 2023Review
Corrections and comments
- Commented on by
- Erratum issued
Authors and funding
8 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundDistal renal tubular acidosis (dRTA) is characterized by hyperchloraemic metabolic acidosis, hypokalaemia, hypercalciuria and nephrocalcinosis. It is due to reduced urinary acidification by the α-intercalated cells in the collecting duct and can be caused by mutations in genes that encode subunits of the vacuolar H
methodsThis study is an analysis of clinical data from a long-term follow-up of 24 children with dRTA in a single centre, including a genetic analysis.
resultsOf the 24 children included in the study, genetic diagnosis was confirmed in 19 patients, with six children having mutations in ATP6V1B1, ten in ATP6V0A4 and three in SLC4A1; molecular diagnosis was not available for five children. Five novel mutations were detected (2 in ATP6V1B1 and 3 in ATP6V0A4). Two-thirds of patients presented with features of proximal tubular dysfunction leading to an erroneous diagnosis of renal Fanconi syndrome. The proximal tubulopathy disappeared after resolution of acidosis, indicating the importance of following proximal tubular function to establish the correct diagnosis. Growth retardation with a height below -2 standard deviation score was found in ten patients at presentation, but persisted in only three of these children once established on alkali treatment. Sensorineural hearing loss was found in five of the six patients with an ATP6V1B1 mutation. Only one patient with an ATP6V0A4 mutation had sensorineural hearing loss during childhood. Nine children developed medullary cysts, but without apparent clinical consequences. Cyst development in this cohort was not correlated with age at therapy onset, molecular diagnosis, growth parameters or renal function.
conclusionIn general, the prognosis of dRTA is good in children treated with alkali.
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