Congenital Chloride Diarrhea in Dizygotic Twins / 대한소아소화기영양학회지
Pediatric Gastroenterology, Hepatology & Nutrition
; : 195-199, 2013.
Article
em En
| WPRIM
| ID: wpr-103572
Biblioteca responsável:
WPRO
ABSTRACT
Congenital chloride diarrhea (CLD) is a rare inherited autosomal recessive disorder. Mutations of the solute carrier family 26 member 3 gene cause profuse, chloride ion rich diarrhea, which results in hypochloremia, hyponatremia and metabolic alkalosis with dehydration. If a fetal ultrasound shows bowel dilatation suggestive of bowel obstruction, or if a neonate shows persistent diarrhea and metabolic alkalosis, CLD should be considered in the differential diagnosis. The severity of CLD varies, but early detection and early therapy can prevent complications including growth failure. We report a case of dizygotic twins affected by CLD who had been born to non-consanguineous parents. Both of them showed growth failure, but one of the twins experienced worse clinical course. He showed developmental delay, along with dehydration and severe electrolyte imbalance. He was diagnosed with CLD first at 6-month age, and then the other one was also diagnosed with CLD.
Palavras-chave
Texto completo:
1
Índice:
WPRIM
Assunto principal:
Pais
/
Gêmeos Dizigóticos
/
Poli-Hidrâmnios
/
Desidratação
/
Diagnóstico Diferencial
/
Diarreia
/
Dilatação
/
Alcalose
/
Prevenção Secundária
/
Hiponatremia
Tipo de estudo:
Diagnostic_studies
/
Screening_studies
Limite:
Humans
/
Newborn
Idioma:
En
Revista:
Pediatric Gastroenterology, Hepatology & Nutrition
Ano de publicação:
2013
Tipo de documento:
Article