Molecular diagnosis of hereditary canalicular cholestasis and familial hyperbilirubinemias

Molecular and differential diagnosis of hereditary canalicular cholestasis and predominantly conjugated jaundice, both characterised by autosomal recessive pattern of inheritance and low prevalence, is described. Classification of the disorders is presented in the introduction. Detailed description of clinical, laboratory and histology findings and typical results of mutation analysis follows. Published and yet unpublished results obtained in the Laboratory of Experimental Hepatology, IKEM, since 2002, are presented at the end.