Mutations and clinical characteristics of dRTA caused by SLC4A1 mutations: Analysis based on published patients.

ABSTRACT:

Background and aims

The genetic and clinical characteristics of patients with distal renal tubular acidosis (dRTA) caused by SLC4A1 mutations have not been systematically recorded before. Here, we summarized the SLC4A1 mutations and clinical characteristics associated with dRTA.

Methods

Database was searched, and the mutations and clinical manifestations of patients were summarized from the relevant articles.

Results

Fifty-three eligible articles involving 169 patients were included and 41 mutations were identified totally. Fifteen mutations involving 100 patients were autosomal dominant inheritance, 21 mutations involving 61 patients were autosomal recessive inheritance. Nephrocalcinosis or kidney stones were found in 72.27%, impairment in renal functio

SUBMITTER: Yang M 

PROVIDER: S-EPMC9910804 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature