Colestase intra-hepática familiar progressiva: relato de dois casos

The progressive familial intrahepatic cholestasis (PFIC) is a heterogeneous group of rare diseases, autosomal recessive, presenting with hepatocellular cholestasis due to a defect in the bile secretion, usually manifested in the childhood. Its common clinical features are: jaundice in infancy, hepatomegaly, splenomegaly, severe intractable pruritus and growth retardation. The epidemiology of these diseases is unknown, but it is estimated that the incidence is 1/50 thousand to 1/100 thousand births. They affect both genders and have been reported in different geographical regions. We describe two cases of siblings, children of consanguineous parents with PFIC type 1. This case report seeks to expand the medical knowledge of these rare genetic manifestations and assist in the early diagnosis of patients with this disease.