[Congenital chloride diarrhea].
Congenital chloride diarrhea (CCD) is a rare hereditary disease, with a prenatal onset, secondary to a deficit in the intestinal chloride transport. In the present study, we describe the clinical characteristics of three patients with congenital watery diarrhea, two of them females, aged between 9 and 14 months at the first visit. All patients presented perinatal antecedents of polyhydramnios and prematurity, watery stools since birth and growth failure. Metabolic alkalosis, hypokalemia and hypochloremia were found. Stool ionogram with elevated doses of chloride, exceeding both sodium and potassium, confirmed the diagnosis of CCD. Substitute treatment with sodium and potassium chloride was started with good results. CCD should be considered as a differential diagnosis to congenital watery diarrhea, since early diagnosis and appropriate treatment are mandatory for the normal development of the child, avoiding severe complications such as neurological sequelae and even death.
Contreras
Mónica
M
Servicio de Gastroenterología, Hospital de Pediatría J.P. Garrahan. contreras118@hotmail.com
Rocca
Ana
A
Benedetti
Laura
L
Kakisu
Hisae
H
Delgado
Sabrina
S
Ruiz
José Antonio
JA
D002712:Chlorides / Q000378:metabolism*; D003968:Diarrhea, Infantile / Q000151:congenital* / Q000175:diagnosis / Q000188:drug therapy; D005243:Feces / Q000737:chemistry; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D011189:Potassium Chloride / Q000008:administration & dosage; D012965:Sodium Chloride / Q000008:administration & dosage
D002712:Chlorides; D012965:Sodium Chloride; D011189:Potassium Chloride