Novel ABCB4 mutations in an infertile female with progressive familial intrahepatic cholestasis type 3: A case report.

ABSTRACT:

Background

Mutations that occur in the ABCB4 gene, which encodes multidrug-resistant protein 3, underlie the occurrence of progressive familial intrahepatic cholestasis type 3 (PFIC3). Clinical signs of intrahepatic cholestasis due to gene mutations typically first appear during infancy or childhood. Reports of PFIC3 occurring in adults are rare.

Case summary

This is a case study of a 32-year-old infertile female Chinese patient with a 15-year history of recurrent abnormal liver function. Her primary clinical signs were elevated levels of alkaline phosphatase and γ-glutamyl transpeptidase. Other possible reasons for liver dysfunction were eliminated in this patient, resulting in a diagnosis of PFIC3. The diagnosis was confirmed using gene detection and histological an

SUBMITTER: Liu TF 

PROVIDER: S-EPMC8891790 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature