# Distal Renal Tubular Acidosis With Sensorineural Deafness in a Saudi Female: A Case Report of an ATP6V1B1 Mutation in a Consanguineous Family

## TL;DR

A Saudi girl with kidney acidification issues and hearing loss had a rare genetic mutation in ATP6V1B1, highlighting the importance of genetic testing in consanguineous families.

## Contribution

Reports a novel ATP6V1B1 mutation (c.1037C>G; p.P346R) in a consanguineous family with dRTA and sensorineural deafness.

## Key findings

- An 11-year-old Saudi girl was diagnosed with dRTA and sensorineural hearing loss due to a homozygous ATP6V1B1 mutation.
- Parents were heterozygous carriers, indicating autosomal recessive inheritance.
- The case emphasizes the need for early genetic diagnosis and multidisciplinary care in such conditions.

## Abstract

Distal renal tubular acidosis (dRTA) with sensorineural deafness is a rare entity inherited in an autosomal recessive manner caused by mutations in the ATP6V1B1 gene leading to defective acidification function in the distal nephron, cochlea, and endolymphatic sac. We report the case of an 11-year-old Saudi girl with dRTA and congenital sensorineural hearing loss. Genetic testing revealed a homozygous mutation in the ATP6V1B1 gene (c.1037C>G; p.P346R). Both parents were heterozygous carriers. This case highlights the clinical and genetic features of dRTA in a consanguineous family and underscores the importance of early genetic diagnosis and multidisciplinary management.