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Congenital Chloride Diarrhea in 5 Korean Infants

Journal of the Korean Pediatric Society 2000;43(11):1465-1472.
Published online November 15, 2000.
Congenital Chloride Diarrhea in 5 Korean Infants
Dong Hun Rhie1, Sun Hwan Bae1, Ji Eun Choi1, Bo Young Yun1, Dong Woo Son1, Choong Ho Shin1, Kyung Hee Park1, Jae Sung Ko2, Jeong Kee Seo2
1Department of Pediatrics, Eulji Medical College Seoul Hospital, Seoul, Korea
2Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea
선천성 염소성 설사의 임상적 고찰
이동훈1, 배선환1, 최지은1, 윤보영1, 손동우1, 신충호1, 박경희1, 고재성2, 서정기2
1을지의과대학 소아과학교실
2서울대학교 의과대학 소아과학교실
: Congenital chloride diarrhea(CLD) is an autosomal recessive disease characterized by life-long watery diarrhea of prenatal onset with high fecal Cl- concentration. Recent studies have revealed that the protein product of the down-regulated in adenoma(DRA) gene is an intestinal anion transporter molecule and causes CLD when mutated. We investigated the clinical characteristics of CLD in Korean infants in order to increase awareness of this disease, which might be simply overlooked as chronic diarrhea.
: Medical records of 5 infants admitted to the pediatric departments of Eulji Medical Center and Seoul National University Children's Hospital from April 1988 to January 1998 with the diagnosis of CLD were retrospectively reviewed. The criteria for inclusion in the study were based on a typical clinical picture and high fecal Cl-.
: There were 4 boys and 1 girl, 2 of them were siblings with no consanguinity in their parents. Their ages ranged from birth to 14 months. The mean gestational age was 36+5 weeks and the mean birth weight was 2.99kg. In all patients abdominal distension, jaundice and watery diarrhea with a history of maternal polyhydramnios were found, lack of meconium passage was also documented and fecal Cl- levels were greater than 90mmol/L. Three patients who were diagnosed beyond neonatal period had retarded growth and delayed development and presented hypochloremic hypokalemic dehydration. Two of them were in a state of metabolic alkalosis.
: CLD should be considered in infants presenting with intractable watery diarrhea, abdominal distension, prematurity and history of polyhydramnios. Full replacement of the fecal losses of electrolytes and water can correct hypoelectrolytemic dehydration and will abolish[all the secondary] disorders. In this study we can be aware that with early detection and appropriate therapy infants with CLD will achieve adequate growth and development.
Key Words: Congenital chloride diarrhea, Hypochloremic hypokalemic metabolic alkalosis, Failure to thrive

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