ATP6V1B1-Associated Inherited Distal Renal Tubular Acidosis in Children: Insights from a Literature Review

TL;DR

This paper reviews inherited distal renal tubular acidosis in children, focusing on ATP6V1B1 gene mutations and their impact on kidney and hearing health.

Contribution

The paper provides updated insights into ATP6V1B1-associated dRTA, emphasizing genotype-phenotype correlations and management in children.

Findings

ATP6V1B1 mutations are linked to early-onset dRTA and sensorineural hearing loss in children.

Early diagnosis and multidisciplinary care improve outcomes in ATP6V1B1-associated dRTA.

Autosomal recessive inheritance patterns are increasingly recognized in this condition.

Abstract

Inherited distal renal tubular acidosis (dRTA) is a rare but clinically significant disorder of renal acid–base regulation that frequently presents in infancy or early childhood. Among the genetic causes of autosomal recessive dRTA, mutations in the ATP6V1B1 gene are particularly important due to their association with early-onset disease and sensorineural hearing loss. Failure to recognize and treat this condition promptly can result in growth retardation, bone disease, nephrocalcinosis, chronic kidney disease, and permanent auditory impairment. This article presents a comprehensive review of the pediatric literature concerning dRTA. We focus on the pathophysiology, pediatric presentation, renal and audiological outcomes, genetic architecture, and management implications of ATP6V1B1-associated dRTA in children. We highlight evolving genotype–phenotype correlations, the emerging recognition of autosomal recessive disease mechanisms, and the importance of early diagnosis and long-term multidisciplinary follow-up.

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