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 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.