A New Mutation Causing Progressive Familiar Intrahepatic Cholestasis Type 3 in Association with Autoimmune Hepatitis
  • Hugo M Oliveira
    Liver and Pancreatic Transplantation Unit, Centro Hospitalar do Porto – Hospital de Santo António, Porto
  • Claudia Pereira
    Liver and Pancreatic Transplantation Unit, Centro Hospitalar do Porto – Hospital de Santo António, Porto
  • Ermelinda Santos-Silva
    Division of Pediatric Gastroenterology, Department of Child and Adolescent, Centro Hospitalar do Porto, Porto
  • Jorge Pinto-Basto
    CGC Genetics, Centro Genética Clinica, Porto
  • José R Vizcaíno
    Pathology Unit, Centro Hospitalar do Porto – Hospital de Santo António, Porto
  • Helena Pessegueiro-Miranda
    Liver and Pancreatic Transplantation Unit, Centro Hospitalar do Porto – Hospital de Santo António, Porto

Keywords

ABCB4, autoimmune hepatitis, primary sclerosing cholangitis, progressive familial intrahepatic cholestasis

Abstract

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 ?-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.

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    Published: 2017-03-27
    Issue: Vol. 4 No. 2 (view)

    How to cite:
    1.
    Oliveira HM, Pereira C, Santos-Silva E, Pinto-Basto J, Vizcaíno JR, Pessegueiro-Miranda H. A New Mutation Causing Progressive Familiar Intrahepatic Cholestasis Type 3 in Association with Autoimmune Hepatitis. EJCRIM 2017;4 doi:10.12890/2016_000537.