Autor(es): Oliveira, HM ; Pereira, C ; Santos Silva, E ; Pinto-Basto, J ; Miranda, H
Data: 2016
Identificador Persistente: http://hdl.handle.net/10216/114691
Origem: Repositório Aberto da Universidade do Porto
Assunto(s): Cholestasis; Gamma-glutamyl transferase; MDR3; Progressive familial intrahepatic cholestasis
Background: There are three types of progressive familial intrahepatic cholestasis (PFIC). Type 3 is characterized by elevated gamma-glutamyl transferase (γ-GT) and it can be diagnosed in adolescence/adulthood. The genetic defect of PFIC 3 appears to explain the pathogenesis of intrahepatic cholestasis of pregnancy (ICP). Aims: Draw attention to this rare disease, especially in adulthood, and clarify the association between ICP and PFIC 3. Results: We describe a series of cases from a Portuguese northern family with two brothers presenting chronic cholestasis since adolescence. Brother 1: since 15-years-old with pruritus and elevated γ-GT ∼6x. Brother 2: pre-term, due to severe maternal pruritus and jaundice, since 13-years-old with pruritus, jaundice and ∼8x γ-GT elevation. Common causes of cholestasis were excluded and liver histologies were nonspecific. Research for mutation on ABCB4 gene showed mutations in both alleles. Conclusion: Disease and mechanisms that determine cholestasis are complex and their understanding may provide new therapeutics.
