title: Presentation of Progressive Familial Intrahepatic Cholestasis Type 3 Mimicking Wilson Disease: Molecular Genetic Diagnosis and Response to Treatment.
abstract: Progressive familial intrahepatic cholestasis type 3 (PFIC3) is an autosomal recessive disorder of cholestasis of hepatocellular origin, typically seen in infancy or childhood caused by a defect in the ABCB4 located on chromosome 7. Here we report on an older patient, aged 15, who presented with biochemical testing that led to an initial consideration of a diagnosis of Wilson disease (WD) resulting in a delayed diagnosis of PFIC3. Diagnosis of PFIC3 was later confirmed by molecular studies that identified novel mutations in the ABCB4 gene. Cholestasis due to PFIC3 can cause elevated hepatic copper and increased urine copper excretion that overlap with current diagnostic criteria for WD. Molecular diagnostics are very useful for establishing the diagnosis of PFIC3. Ursodeoxycholic acid ameliorates cholestasis in PFIC3, and may help mediate a reduction in hepatic copper content in response to treatment.
authors.affiliation: Division of Digestive Diseases and Section of Transplantation and Immunology, Department of Medicine and Surgery, Yale University School of Medicine, New Haven, CT, USA.
authors.forename: Salih
authors.initials: S
authors.lastname: Boga
authors.affiliation: Department of Pathology, Yale University School of Medicine, New Haven, CT, USA.
authors.forename: Dhanpat
authors.initials: D
authors.lastname: Jain
authors.affiliation: Division of Digestive Diseases and Section of Transplantation and Immunology, Department of Medicine and Surgery, Yale University School of Medicine, New Haven, CT, USA.
authors.forename: Michael L
authors.initials: ML
authors.lastname: Schilsky
keywords: Cholestasis; Ursodeoxycholic acid; Wilson disease; progressive familial intrahepatic