Congenital chloride diarrhoea in a Chinese infant with a compound heterozygous SLC26A3 mutation.
And hyponatraemia
Child
Congenital chloride diarrhoea
Hypochloraemia
Hypokalaemia
Metabolic alkalosis
Solute carrier family 26 member 3
Journal
BMC pediatrics
ISSN: 1471-2431
Titre abrégé: BMC Pediatr
Pays: England
ID NLM: 100967804
Informations de publication
Date de publication:
04 May 2024
04 May 2024
Historique:
received:
23
10
2023
accepted:
24
04
2024
medline:
5
5
2024
pubmed:
5
5
2024
entrez:
4
5
2024
Statut:
epublish
Résumé
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. 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. 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.
Identifiants
pubmed: 38704545
doi: 10.1186/s12887-024-04788-x
pii: 10.1186/s12887-024-04788-x
doi:
Substances chimiques
SLC26A3 protein, human
0
Sulfate Transporters
0
Chloride-Bicarbonate Antiporters
0
Potassium Chloride
660YQ98I10
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
305Informations de copyright
© 2024. The Author(s).
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