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Article

Molecular aspects and long-term outcome of patients with primary distal renal tubular acidosis.

Pediatric nephrology (Berlin, Germany) - 1 Oct 2021

Gómez-Conde Sara, García-Castaño Alejandro, Aguirre Mireia, Herrero María, Gondra Leire, García-Pérez Nélida, García-Ledesma Paula, Martín-Penagos Luis, Dall'Anese Cecilia, Ariceta Gema, Castaño Luis, Madariaga Leire

Abstract excerpt

BACKGROUND: Primary distal renal tubular acidosis (dRTA) is a rare genetic disorder caused by impaired distal mechanisms of urinary acidification. Most cases are secondary to pathogenic variants in ATP6V0A4, ATP6V1B1, and SLC4A1 genes, which encode transporters regulating acid-base balance in the collecting duct. METHODS: Retrospective study of molecular and clinical data from diagnosis and long-term follow-up...

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Share to Acidosis, Renal Tubular
Share to Anion Exchange Protein 1, Erythrocyte

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hearing Loss, Sensorineural

Share to Mutation

Share to Renal Insufficiency, Chronic

Share to Vacuolar Proton-Translocating ATPases

Source

Identifiers

PMID: 33881640
DOI: 10.1007/s00467-021-05066-z

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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