RESUMOA colestase intra-hepática familiar progressiva (PFIC) é um grupo heterogêneo de doenças raras, de herança autossômica recessiva, que se apresenta com colestase hepatocelular devido a um defeito na secreção biliar, geralmente manifestada na infância. Suas características clínicas comuns são: icterícia na primeira infância, hepatosesplenomegalia, prurido intratável grave e retardo de crescimento. Não se conhece bem a epidemiologia dessas doenças, mas estima-se que a incidência seja de 1:50 mil a 1:100 mil nascimentos. A PFIC acomete igualmente ambos os sexos e tem sido relatada em diversas regiões geográficas. Descrevemos dois casos de irmãos, filhos de pais consanguíneos com a PFIC tipo 1. O presente relato busca ampliar o conhecimento médico dessas manifestações genéticas raras e auxiliar no diagnóstico precoce dos pacientes com a enfermidade. Palavras-chave: colestase intra-hepática; lactente; hereditariedade; icterícia neonatal; prurido. ABSTRACTThe 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.
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