Congenital chloride diarrhea in a Turkish boy.
Congenital chloride diarrhea (CCD), first described in 1945, is a rare, autosomal-recessively inherited disease. It is characterized by chronic, watery diarrhea with a high fecal chloride concentration, hyponatremia, hypokalemia, and hypochloremic metabolic alkalosis. In this report, a 7.5-year-old boy with CCD diagnosed by high fecal chloride concentration is presented. Until now CCD had not been reported from Turkey, although consanguineous marriages are common.
Ozen
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Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara.
Tanriöğer
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D002648:Child; D002712:Chlorides / Q000378:metabolism*; D003967:Diarrhea / Q000151:congenital* / Q000175:diagnosis / Q000378:metabolism; D005243:Feces / Q000737:chemistry; D006801:Humans; D008297:Male; D014421:Turkey
D002712:Chlorides