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

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

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...

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Bibliographic Details
Main Authors: Qian Li, Jing Wang, Ruixian Zang, Lichun Yu, Zhenle Yang, Shuzhen Sun
Format: Article
Language:English
Published: BMC 2024-05-01
Series:BMC Pediatrics
Subjects:
Congenital chloride diarrhoea
Solute carrier family 26 member 3
Child
Metabolic alkalosis
Hypochloraemia
Hypokalaemia
Online Access:https://doi.org/10.1186/s12887-024-04788-x

Internet

https://doi.org/10.1186/s12887-024-04788-x

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