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[Clinical characteristics and genetic analysis of three children with Congenital chlorine diarrhea]

Hui Yin1, Xiaobo Chen, Fuying Song

  • 1Department of Endocrinology, the Affiliated Children's Hospital of Capital Pediatric Institute, Beijing 100020, China. xiaobochen6362@163.com.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics
|January 29, 2023
PubMed

Insights

Congenital chlorine diarrhea (CCD) in three children was linked to SLC26A3 gene variants. This study expands the known spectrum of genetic mutations causing this rare diarrheal disorder.

Area of Science:

  • Genetics
  • Pediatrics
  • Gastroenterology

Context:

  • Congenital chlorine diarrhea (CCD) is a rare inherited disorder affecting intestinal ion transport.
  • Accurate diagnosis relies on identifying specific genetic mutations.

Purpose:

  • To investigate the clinical features and genetic underpinnings of CCD in three pediatric patients.
  • To expand the known spectrum of SLC26A3 gene variants associated with CCD.

Summary:

  • Three children diagnosed with CCD presented with recurrent diarrhea, hypochloremia, hypokalemia, and metabolic alkalosis.
  • Genetic analysis identified various SLC26A3 gene variants, including homozygous and compound heterozygous mutations, confirmed by Sanger sequencing.
  • All identified variants were inherited from the patients' parents.

Impact:

  • This research contributes to a deeper understanding of the genetic basis of Congenital chlorine diarrhea.
  • The findings enrich the mutational spectrum of the SLC26A3 gene, aiding in future genetic diagnostics and counseling for CCD.
Abstract

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