Pediatric Gastroenterology, Hepatology & Nutrition

The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition (대한소아소화기영양학회)
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Congenital Chloride Diarrhea in Dizygotic Twins

  • Seo, Kyung Ah (Department of Pediatrics, College of Medicine, Chung-Ang University) ;
  • Lee, Na Mi (Department of Pediatrics, College of Medicine, Chung-Ang University) ;
  • Kim, Gwang Jun (Department of Obstetrics and Gynecology, College of Medicine, Chung-Ang University) ;
  • Yun, Sin Weon (Department of Pediatrics, College of Medicine, Chung-Ang University) ;
  • Chae, Soo Ahn (Department of Pediatrics, College of Medicine, Chung-Ang University) ;
  • Lim, In Seok (Department of Pediatrics, College of Medicine, Chung-Ang University) ;
  • Choi, Eung Sang (Department of Pediatrics, College of Medicine, Chung-Ang University) ;
  • Yoo, Byoung Hoon (Department of Pediatrics, College of Medicine, Chung-Ang University)
  • Received : 2013.07.26
  • Accepted : 2013.08.23
  • Published : 2013.09.30
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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.

Keywords

References

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