A Case of Congenital Chloridorrhea

Seo, Jung Lae; Jung, Woo Chul; Kim, Kyung Taek; Kim, Young Suk; Lee, Sung Won; Cho, Yong; Ro, Eu Sun; Lee, Hong Jin

Abstract

Congenital chloridorrhea is a rare autosomal recessive disease and results from impairment of active transport of chloride in the ileum and colon. Absence of the Cl-/HCO3-, exchange pump causes polyhydramnios, distended bowel loop and absence of meconium before birth. Prenatal ultrasound examination shows a great number of circular anechoic area in the fetal abdomen, as well as polyhydramnios. Massive watery diarrhea is apparent from the first days of life. This fluid loss, with its attendant impairment of electrolyte homeostasis, is life threatening. Exact replacement of water, NaCl and KCl can prevent the growth and psychomotor retardation and the development of progressive renal damage. We experienced one case of congenital chloridorrhea and present it with brief review of literatures.