A New Mutation Causing Progressive Familiar Intrahepatic Cholestasis Type 3 in Association with Autoimmune Hepatitis

Oliveira, Hugo M. and Pereira, Cláudia and Santos-Silva, Ermelinda and Pinto-Basto, Jorge and Vizcaíno, José R. and Pessegueiro-Miranda, Helena (2017) A New Mutation Causing Progressive Familiar Intrahepatic Cholestasis Type 3 in Association with Autoimmune Hepatitis. European Journal of Case Reports in Internal Medicine, 4 (2). ISSN 2284-2594

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Background: Some patients exhibit features of both autoimmune hepatitis (AIH) and primary sclerosing cholangitis (PSC). Similarly, patients with progressive familial intrahepatic cholestasis type 3 (PFIC3) may share histological features with PSC. Case report: We report the case of a 22-year-old man who, since he was 5 years of age, has presented with pruritus, an approximately ninefold elevation of aminotransferases, and γ-glutamyl transferase levels ~10 times the upper limit. Initially he was diagnosed with an overlap syndrome of small duct PSC plus AIH. However, fluctuations in liver enzymes were observed over the following years. Analysis of the ABCB4 gene indicated the diagnosis of PFIC3, revealing a mutation not previously reported. Conclusion: With this case report we aim to describe a new mutation, raise awareness of this rare pathology and highlight the importance of genetic testing of the ABCB4 gene in patients with autoimmune liver disease (mainly small duct PSC) with incomplete response to immunosuppressive treatment

Item Type: Article
Uncontrolled Keywords: ABCB4; autoimmune hepatitis; primary sclerosing cholangitis; progressive familial intrahepatic cholestasis
Subjects: 600 Tecnologia - Scienze applicate > 610 Medicina e salute (Classificare qui la tecnologia dei servizi medici) > 616 Malattie (classificare qui la Clinica medica, la medicina basata sull'evidenza, la Medicina interna, la Medicina sperimentale)
Depositing User: Michela Donatelli
Date Deposited: 08 May 2017 13:12
Last Modified: 06 Jul 2017 08:08
URI: http://eprints.bice.rm.cnr.it/id/eprint/16171

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