Congenital Chloride Diarrhea in Dizygotic Twins
서경아, 이나미, 윤신원, 채수안, 임인석, 최응상, 유병훈, 김광준,
소속 상세정보
서경아 ( Seo Kyung-Ah )
Chung-Ang University College of Medicine Department of Pediatrics
이나미 ( Lee Na-Mi )
Chung-Ang University College of Medicine Department of Pediatrics
윤신원 ( Yun Sin-Weon )
Chung-Ang University College of Medicine Department of Pediatrics
채수안 ( Chae Soo-Ahn )
Chung-Ang University College of Medicine Department of Pediatrics
임인석 ( Lim In-Seok )
Chung-Ang University College of Medicine Department of Pediatrics
최응상 ( Choi Eung-Sang )
Chung-Ang University College of Medicine Department of Pediatrics
유병훈 ( Yoo Byoung-Hoon )
Chung-Ang University College of Medicine Department of Pediatrics
김광준 ( Kim Gwang-Jun )
Chung-Ang University College of Medicine Department of Obstetrics and Gynecology
KMID : 0816120130160030195
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.
키워드
Congenital chloride diarrhea;Polyhydramnios;Dizygotic twins;Alkalosis;Hyponatremia
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