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Article

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

BMC pediatrics - 4 May 2024

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

Abstract excerpt

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,...

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Identifiers

PMID: 38704545
DOI: 10.1186/s12887-024-04788-x
PMCID: PMC11069184

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