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Article

Molecular genetics and long-term outcomes of primary distal renal tubular acidosis in Asia.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 30 Apr 2026

Thakare Sayali, Lila Anurag, Keskar Vaibhav, Geetha Thenral, Kumar Bs Kruteesh, Rao Nikhil, Joga Ashwini, Shirke Prateek, Sardar Abhimanyu, Bothara Rita, Kadu Prajakta, Thakur Geetanjali, Modi Tulsi, Bose Sreyashi, Bajpai Divya, More Tejashree, Kedar Prabhakar, Deshmukh Bhagyshree, Pai Nanda, Jadhav Pratap, Bandgar Tushar, Hase Niwrutti, Jamale Tukaram

Abstract excerpt

BACKGROUND AND HYPOTHESIS: Primary distal renal tubular acidosis (dRTA) is a rare inherited renal tubular disorder having a significant impact on growth and kidney function. Data on molecular genetics and long-term outcomes of primary dRTA, especially for newer genotypes, are limited. METHODS: 63 probands with a clinical diagnosis of dRTA underwent molecular genetic testing, specifically including SLC4A1,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41134021
DOI: 10.1093/ndt/gfaf222
PMCID: PMC13232045

Genes

SLC4A1
ATP6V1B1
FOXI1
ATP6V0A4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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