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Distal renal tubular acidosis. Clinical manifestations in patients with different underlying gene mutations.

Pediatric nephrology (Berlin, Germany) - 1 Sept 2018

Alonso-Varela Marta, Gil-Peña Helena, Coto Eliecer, Gómez Juan, Rodríguez Julián, Rodríguez-Rubio Enrique, Santos Fernando

Abstract excerpt

BACKGROUND: To evaluate whether there are differences in the phenotype of primary distal renal tubular acidosis (dRTA) patients according to the causal defective gene. METHODS: Twenty-seven non-oriental patients with genetically confirmed dRTA were grouped according to the identified underlying mutations in either ATP6V1B1 (n = 10), ATP6V0A4 (n = 12), or SLC4A1 (n = 5) gene. Demographic features, growth...

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PMID: 29725771
DOI: 10.1007/s00467-018-3965-8

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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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