ReviewFrontiers in pediatrics2023
Mutations and clinical characteristics of dRTA caused by
Review in Frontiers in pediatrics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed.
- Transient Primary Renal Tubular Acidosis During Pregnancy: A Case Report.Kidney medicine · 2026Article
- Article
- Sjögren's Disease-Associated Renal Tubular Acidosis: An Integrated Immuno-Tubular Model of Tubular Dysfunction.International journal of medical sciences · 2026Review
- Hereditary distal renal tubular acidosis with chronic granulomatous disease: a rare coincidence.CEN case reports · 2025Article
- Hereditary kidney disease with auditory abnormalities: analysis of mutations and clinical phenotypes.BMC medical genomics · 2025Review
- Qingqi Guxue Decoction induces S cell cycle arrest to inhibit replication of severe fever with thrombocytopenia syndrome virus.Virologica Sinica · 2025Article
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Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background and Aims: The genetic and clinical characteristics of patients with distal renal tubular acidosis (dRTA) caused by Methods: Database was searched, and the mutations and clinical manifestations of patients were summarized from the relevant articles. Results: Fifty-three eligible articles involving 169 patients were included and 41 mutations were identified totally. Fifteen mutations involving 100 patients were autosomal dominant inheritance, 21 mutations involving 61 patients were autosomal recessive inheritance. Nephrocalcinosis or kidney stones were found in 72.27%, impairment in renal function in 14.29%, developmental disorders in 61.16%, hematological abnormalities in 33.88%, and muscle weakness in 13.45% of patients. The age of onset was younger ( Conclusions: The children present with metabolic acidosis with high urinary pH, accompanying hypokalemia, hyperchloremia, nephrocalcinosis, growth retardation and hematological abnormalities should be suspected as dRTA and suggested a genetic testing. The patients with recessive dRTA are generally more severely affected than that with dominant
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