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

Distal renal tubular acidosis (dRTA) with sensorineural deafness is a rare entity inherited in an autosomal recessive manner caused by mutations in the <i>ATP6V1B1</i> 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 <i>ATP6V1B1</i> 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.