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Article

Distal renal tubular acidosis with nerve deafness secondary to ATP6B1 gene mutation.

Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia - 1 Jan 2015

Naveen Parvathina Sriram, Srikanth Lokanatha, Venkatesh Katari, Sarma Potukuchi Venkata Gurunadha Krishna, Sridhar Naga, Krishnakishore Chennu, Sandeep Yanala, Manjusha Yadla, Sivakumar Vishnubhotla

Abstract excerpt

Autosomal recessive distal renal tubular acidosis (dRTA) is associated with mutation in the ATP6B1 gene encoding the B1 subunit of H + -ATPase, one of the key membrane transporters for net acid excretion of α-intercalated cells of medullary collecting ducts. Sensori-neural deafness frequently accompanies this type of dRTA. We herewith describe a patient who had distinct features of dRTA with bilateral...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 25579729
DOI: 10.4103/1319-2442.148757

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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