Abstract

CIOCCA, Mirta  and  ALVAREZ, Fernando. Genetic cholestasis. Arch. argent. pediatr. [online]. 2009, vol.107, n.4, pp.340-346. ISSN 0325-0075.

During the last 11 years, advances in molecular genetics have changed our approach to children with intrahepatic cholestasis. Progress in identification of mutated genes now allows genetic diagnosis for several forms of cholestasis previously grouped into PFIC (progressive familial intrahepatic cholestasis). Three distinct forms: PFIC1, PFIC2, and PFIC3 are the result of mutations in the ATP8B1, ABCB11, and ABCB4 genes. The diagnosis is supported on clinical, biochemical and histological features. The therapeutic goals in theses diseases are alleviate symptoms and improve quality of life. Inborn errors of bile acid synthesis represent a subset of familial intrahepatic cholestasis. Replacement therapy with ursodeoxycholic acid and cholic acid avoids progression of the liver injury.

Keywords : Cholestasis; Genetics; Inborn errors; Children.

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