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KMID : 0816120130160030195
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Korean Journal of Pediatric Gastroenterolology and Nutrition
2013 Volume.16 No. 3 p.195 ~ p.199
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Congenital Chloride Diarrhea in Dizygotic Twins
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Seo Kyung-Ah
Lee Na-Mi
Yun Sin-Weon
Chae Soo-Ahn
Lim In-Seok
Choi Eung-Sang
Yoo Byoung-Hoon
Kim Gwang-Jun
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Abstract
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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.
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KEYWORD
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Congenital chloride diarrhea, Polyhydramnios, Dizygotic twins, Alkalosis, Hyponatremia
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