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Author(s): Oliveira, HM
Pereira, C
Santos Silva, E
Pinto-Basto, J
Miranda, H
Title: Elevation of gamma-glutamyl transferase in adult: Should we think about progressive familiar intrahepatic cholestasis?
Issue Date: 2016
Abstract: 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.
Subject: Cholestasis
Gamma-glutamyl transferase
Progressive familial intrahepatic cholestasis
Source: Dig Liver Dis, vol. 48(2), p. 203-205
Document Type: Artigo em Revista Científica Internacional
Rights: openAccess
Appears in Collections:ISPUP - Artigo em Revista Científica Internacional

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