Familial distal renal tubular acidosis

Lihong Zhang; Bei Xu; Ya Niu; Yajuan Wang; Hui Tang

doi:10.1177/03000605211000533

Familial distal renal tubular acidosis

J Int Med Res. 2021 Mar;49(3):3000605211000533. doi: 10.1177/03000605211000533.

Authors

Lihong Zhang¹, Bei Xu¹, Ya Niu¹, Yajuan Wang¹, Hui Tang¹

Affiliation

¹ Department of Pediatrics, Baoding No. 1 Central Hospital, Baoding 071000, China.

Abstract

We report the case of a family in which two sisters have distal renal tubular acidosis (dRTA). Familial dRTA is a rare disorder, with both autosomal dominant and recessive transmission. This is a report of familial dRTA from China.

Keywords: China; Distal renal tubular acidosis; autosomal dominant and recessive transmission; case report; children; rare disease.

MeSH terms

Acidosis, Renal Tubular* / diagnosis
Acidosis, Renal Tubular* / genetics
China
Humans
Mutation