Congenital Chloride Diarrhea in 5 Korean Infants

ABSTRACT

PURPOSE: 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 mutatec4 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. METHODS: Medical records of 5 infants admitted to the pediatric departments of Eulji Medical Center and Seoul National 1Jniversity 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 RESULTS: There were 4 boys and 1 girl, 2 of them were siblings with no consanguinity in their parents. Their ages ranged from birth to l4 months. The mean gestational age was 36 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 hypokalernic dehydration. Two of thern were in a state of metabolic alkalosis. CONCLUSION: 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 ancl water can correct hypoelectrolyternic dehydration and will abolish[all the secondary] disorders. In this study we can be aware that with early detection and appropriate therapy infants with CLI) will achieve adequate growth and development.