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Revista chilena de pediatría

versión impresa ISSN 0370-4106


GODOY P, MARCELA  y  SORIANO B, HUMBERTO. Familial Cholestasis: A Comon Cause of Conjugated Hyperbilurubinemia. Rev. chil. pediatr. [online]. 2009, vol.80, n.4, pp.367-376. ISSN 0370-4106.

Cholestasis is defined as a disorder affecting the production of bile resulting in the retention of its components in the liver and blood. In children, this disorder is almost always due to genetic alterations. Functionally, cholestasis may be the result of hepatic failure to secrete bile due to decrease in transport, synthesis or biliary obstruction. Extrahepatic cholestasis may be caused by biliary atresia and other obstructions of the bile ducts. Intrahepatic cholestasis may be the result of several disorders including progressive familial intrahepatic cholestasis (PFIC) types 1, 2 and 3, an autosomal recessive disease due to mutations in the genes ATP8B1, ABCBll and ABCB4 respectively. Pathophysiology and clinical presentation of this disease are now well understood. Clinically, these patients may present with jaundice, itching, anorexia, and generally unwell. Laboratory tests may disclose conjugated bilirubin over lmg/dl or larger than 20% of total bilirubin. Ursodeoxycholic acid, cholestiramine and biliary diversion may help in some of these conditions. Ongoing research into the mechanisms of genetic cholestasis could be key to therapy.

Palabras clave : Cholestasis; progressive familial intrahepatic cholestasis; genetic cholestasis syndromes; hepatobiliary transport.

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