Please use this identifier to cite or link to this item:
https://hdl.handle.net/10216/114691
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 MDR3 Progressive familial intrahepatic cholestasis |
URI: | http://hdl.handle.net/10216/114691 |
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 |
Files in This Item:
File | Description | Size | Format | |
---|---|---|---|---|
OliveiraHMPereiraC2015.pdf | 554.82 kB | Adobe PDF | View/Open |
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.