Work

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

Year: 2025

Type: article

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.

Source: Cureus

DOI: 10.7759/cureus.98596

Authors: Abeer Alrasheed, Nouf Alyabis, Soud A Alrasheed, Reem Alrasheed

Institutions: Alfaisal University, King Abdulaziz Medical City

Language: English

Topic: Renal function and acid-base balance

Subfield: Nephrology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W7109550721