[Clinical features of hereditary distal renal tubular acidosis and SLC4A1 gene mutation].

ABSTRACT:

Objective

To study the clinical features of two families with distal renal tubular acidosis (dRTA) and mutations in the pathogenic gene SLC4A1.

Methods

Family investigation, medical history collection, and measurement of biochemical parameters were performed to analyze the clinical phenotype and genetic characteristics of dRTA. Direct sequencing was used to detect SLC4A1 gene mutations.

Results

Three patients in these two families (two of them were mother and son) were diagnosed with dRTA with typical clinical features, including short stature, metabolic acidosis, alkaline urine, hypokalemia, and nephrocalcinosis. SLC4A1 gene analysis showed that all the three patients had a pathogenic missense mutation R589H (c.1766G>A). The child in family 1 had a de novo mutation o

SUBMITTER: DU J 

PROVIDER: S-EPMC7389662 | biostudies-literature | 2017 Apr

REPOSITORIES: biostudies-literature