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01 January 1998

Congenital chloride diarrhea - case from Poznań (Western Poland)

Krzysztof Borski, Danuta Kostrzewa-Szymic, Jarosław Walkowiak, Marian Krawczyński

Med Sci Monit 1998; 4(1): CS165-168 :: ID: 502852

Abstract

Congenital chloride diarrhea (CCD) is a rare autosomal recessive disease characterized by persistent watery diarrhea with high faecal Cl- concentration. It results from a defect in the HCO3/Cl- exchange in the distal ileum and colon. This defect leads to impaired Cl- and Na+ absorption. Hydramnios, premature birth, no passage of meconium and distended intestine are typical features of CCD in the neonate, and severe metabolic alkalosis, hypochloraemia, hypokalaemia and retarded growth and development are common symptoms. Plasma renin and aldosterone concentration could be highly elevated and renal abnormalities could develop.The treatment of CCD is based on full oral replacement of faecal losses of Cl-, Na+, K+, and water. A girl one and a half year old with CCD has been treated in our clinic with good follow up: normal electrolytes and gasometric parameters, normal renal function and good growth and psychomotor development are reported.

Keywords: in-born error of metabolism, Congenital chloride diarrhea

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