SLC10A2 deficiency-induced congenital chronic bile acid diarrhea and stunting.

ABSTRACT:

Background

Diarrhea is a common occurrence in children below the age of 5 years. In chronic cases, it induces malnutrition that severely stunts growth. Bile acid diarrhea (BAD), caused by malabsorption of bile acid (BA), is a rare form of chronic diarrhea seldom observed in pediatric patients. Here, we present a clinical report on a novel case of chronic BAD, with severe stunting in an infant, induced by a homozygous mutation of SLC10A2.

Methods

We performed DNA extraction, whole-exome sequencing analysis, and mutation analysis of SLC10A2 to obtain genetic data on the patient. We subsequently analyzed the patient's clinical and genetic data.

Results

The patient's clinical manifestations were chronic diarrhea with increased BAs in the feces and extreme stunting, which

SUBMITTER: Qie D 

PROVIDER: S-EPMC8404231 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature