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BMC Pediatrics

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Open Access 01-12-2024 | Diarrhea | Case Report

Congenital chloride diarrhoea in a Chinese infant with a compound heterozygous SLC26A3 mutation

Authors: Qian Li, Jing Wang, Ruixian Zang, Lichun Yu, Zhenle Yang, Shuzhen Sun

Published in: BMC Pediatrics | Issue 1/2024

Abstract

Introduction

Congenital chloride diarrhoea (CCD) is an autosomal recessive condition that causes secretory diarrhoea and potentially deadly electrolyte imbalances in infants because of solute carrier family 26 member 3 (SLC26A3) gene mutations.

Case presentation

A 7-month-old Chinese infant with a history of maternal polyhydramnios presented with frequent watery diarrhoea, severe dehydration, hypokalaemia, hyponatraemia, failure to thrive, metabolic alkalosis, hyperreninaemia, and hyperaldosteronaemia. Genetic testing revealed a compound heterozygous SLC26A3 gene mutation in this patient (c.269_270dup and c.2006 C > A). Therapy was administered in the form of oral sodium and potassium chloride supplements, which decreased stool frequency.

Conclusions

CCD should be considered when an infant presents with prolonged diarrhoea during infancy, particularly in the context of maternal polyhydramnios and dilated foetal bowel loops.

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Title: Congenital chloride diarrhoea in a Chinese infant with a compound heterozygous SLC26A3 mutation
Authors: Qian Li
Jing Wang
Ruixian Zang
Lichun Yu
Zhenle Yang
Shuzhen Sun
Publication date: 01-12-2024
Publisher: BioMed Central
Keywords: Diarrhea
Diarrhea
Metabolic Alkalosis
Published in: BMC Pediatrics / Issue 1/2024
Electronic ISSN: 1471-2431
DOI: https://doi.org/10.1186/s12887-024-04788-x

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Congenital chloride diarrhoea in a Chinese infant with a compound heterozygous SLC26A3 mutation

Abstract

Introduction

Case presentation

Conclusions

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Introduction

Case presentation

Conclusions

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