BACKGROUND: Congenital hepatic fibrosis is an uncommon cause of portal hypertension in childhood or the early adolescence, usually presented with hepatomegaly and bleeding from esophageal varices. Despite the hepatomegaly and the fibrotic reconstruction of the liver the liver function tests are usually normal. In most cases it is associated with cystic disease of the kidneys. Congenital hepatic fibrosis is a constant feature of autosomal recessive polycystic kidney disease. CASE: The authors report on the case of a female patient with polycystic kidneys and polycystic liver. The symptoms of portal hypertension presented in the age of 20, on the basis of liver biopsy congenital hepatic fibrosis was diagnosed. AIMS: The authors intended to investigate whether there is genetic alteration as common etiology behind the rare association of congenital hepatic fibrosis confirmed in the adolescence and the polycystic disease of the liver and the kidneys. The clinical manifestation raised the possibility of autosomal recessive polycystic kidney disease. Segregation of microsatellite markers for autosomal recessive polycystic kidney disease gene locus 6p21.1-p12 was examined in the affected family to assess the possible role of theis gene. RESULTS: Four out of the 6 polymorphic microsatellite markers were informative, indicating that the autosomal recessive polycystic kidney disease may be responsible for the development of the rare association of the lesions of the liver and the kidneys in authors' patient.
|Number of pages||4|
|Publication status||Published - nov. 17 2002|
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