ReviewWorld journal of pediatrics : WJP2019
Distal renal tubular acidosis: genetic causes and management.
Review in World journal of pediatrics : WJP, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 35 citations in OpenAlex.
- Tislelizumab-induced distal renal tubular acidosis presenting with life-threatening hypokalemia: a case report.Frontiers in immunology · 2026Article
- Inherited Type-1 renal tubular acidosis with short stature: a rare case report from Nepal.Annals of medicine and surgery (2012) · 2025Article
- A gain-of-function mutation in ATP6V0A4 drives primary distal renal tubular alkalosis with enhanced V-ATPase activity.The Journal of clinical investigation · 2025Article
- UtilizingJournal of developmental biology · 2025Review
- Neonatal Onset Distal Renal Tubular Acidosis: Description of Two Novel Variants on theJournal of pediatric genetics · 2024Article
- Renal calcification in children with renal tubular acidosis: What a paediatrician should know.World journal of clinical pediatrics · 2023Review
- Research progress on renal calculus associate with inborn error of metabolism.Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences · 2023Review
- Novel Variant of theBiomedicines · 2023Article
- Whole-exome sequencing and variant spectrum in children with suspected inherited renal tubular disorder: the East India Tubulopathy Gene Study.Pediatric nephrology (Berlin, Germany) · 2022Article
- Molecular Aspects of Distal Kidney Tubular Acidosis in Children, Its Long-Term Outcome, and Relationship with Hyperammonemia.Turkish archives of pediatrics · 2022Article
- Custom Next-Generation Sequencing Identifies Novel Mutations Expanding the Molecular and clinical spectrum of isolated Hearing Impairment or along with defects of the retina, the thyroid, and the kidneys.Molecular genetics & genomic medicine · 2022Article
- Screening for an Underlying Tubulopathy in Children With Growth Failure, Simply Maths?Frontiers in pediatrics · 2022Article
- Hypokalemic paralysis and discolored teeth in a 12-year-old girl: Answers.Pediatric nephrology (Berlin, Germany) · 2021Article
- Molecular aspects and long-term outcome of patients with primary distal renal tubular acidosis.Pediatric nephrology (Berlin, Germany) · 2021Article
- The Ncoa7 locus regulates V-ATPase formation and function, neurodevelopment and behaviour.Cellular and molecular life sciences : CMLS · 2021Article
- Bartter's syndrome: clinical findings, genetic causes and therapeutic approach.World journal of pediatrics : WJP · 2021Review
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundDistal renal tubular acidosis (dRTA) is a kidney tubulopathy that causes a state of normal anion gap metabolic acidosis due to impairment of urine acidification. This review aims to summarize the etiology, pathophysiology, clinical findings, diagnosis and therapeutic approach of dRTA, with emphasis on genetic causes of dRTA. DATA SOURCES: Literature reviews and original research articles from databases, including PubMed and Google Scholar. Manual searching was performed to identify additional studies about dRTA.
resultsdRTA is characterized as the dysfunction of the distal urinary acidification, leading to metabolic acidosis. In pediatric patients, the most frequent etiology of dRTA is the genetic alteration of genes responsible for the codification of distal tubule channels, whereas, in adult patients, dRTA is more commonly secondary to autoimmune diseases, use of medications and uropathies. Patients with dRTA exhibit failure to thrive and important laboratory alterations, which are used to define the diagnosis. The oral alkali and potassium supplementation can correct the biochemical defects, improve clinical manifestations and avoid nephrolithiasis and nephrocalcinosis.
conclusionsdRTA is a multifactorial disease leading to several clinical manifestations. Clinical and laboratory alterations can be corrected by alkali replacement therapy.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.