Congenital chloride diarrhea in a child.
Congenital chloride diarrhea (CLD) is a rare autosomal recessive disease characterized by persistent, lifelong, watery diarrhea with high fecal chloride concentration. It results from a defect of the bicarbonate/chloride exchange system in the distal ileum and colon. Polyhydramnios, premature birth, ileus without meconium passage, hypochloremia, and hyponatremia are typical features of CLD in the neonate, followed by chronic metabolic alkalosis, hypokalemia, hypochloremia, retarded growth, and renal impairment in older children and adults if the disease is not adequately treated. The diagnosis of CLD is highly dependent on the alertness of physicians. Prompt recognition and adequate replacement of fecal loss of chloride, sodium, potassium, and water are mandatory for satisfactory disease outcome. We report a case of CLD complicated with recurrent episodes of ileus, metabolic alkalosis, and hypokalemia causing frequent hospitalization in a 4-year-old boy. Normalized electrolytes and gasometric parameters, decreased abdominal circumference, and growth catch-up were achieved after education of the parents about daily care, and provision of adequate fluid and electrolyte supplementation.
Li
Wen-Chieh
WC
Department of Pediatrics, Chang Gung Memory Hospital, Kaohsiung, Taiwan.
Shih
Hsiang-Hung
HH
Wu
Kun-Lin
KL
Chou
Chien-Chen
CC
D002675:Child, Preschool; D002712:Chlorides / Q000378:metabolism*; D003937:Diagnosis, Differential; D003967:Diarrhea / Q000151:congenital* / Q000175:diagnosis / Q000378:metabolism; D005243:Feces / Q000737:chemistry; D006801:Humans; D008297:Male
D002712:Chlorides