A rare case of autosomal recessive ATP6V0A4 variant of distal renal tubular acidosis in a young female with recurrent nephrolithiasis

A rare case of autosomal recessive ATP6V0A4 variant of distal renal tubular acidosis in a young female with recurrent nephrolithiasis

Homozygous autosomal recessive distal renal tubular acidosis (dRTA) is a rare entity. The intercalated cells in the collecting ducts are defective in apical proton secretion or basolateral bicarbonate reabsorption, due to mutations in genes encoding for proteins in a4 and B1 subunits of the V-ATPase...

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Bibliographic Details
Main Authors: Priya Haridas Anupama, Georgi Abraham, Lakshmi Shanmugasundaram, Sneha Haridas Anupama
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2019-01-01
Series:Saudi Journal of Kidney Diseases and Transplantation
Online Access:http://www.sjkdt.org/article.asp?issn=1319-2442;year=2019;volume=30;issue=6;spage=1442;epage=1446;aulast=Anupama

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http://www.sjkdt.org/article.asp?issn=1319-2442;year=2019;volume=30;issue=6;spage=1442;epage=1446;aulast=Anupama

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