Case series of progressive familial intrahepatic cholestasis type 3: Characterization of variants in ABCB4 in China.

ABSTRACT:

Objective

To improve the accuracy of the diagnosis of familial progressive intrahepatic cholestasis type 3 (PFIC3, https://www.omim.org/entry/602347).

Materials and methods

Between September 2019 and March 2021, we recruited four patients with PFIC3 from two liver centers in East China. Molecular genetic findings of ATP-binding cassette subfamily B member 4 [ATP binding cassette transporter A4 (ABCB4), https://www.omim.org/entry/171060] were prospectively examined, and clinical records, laboratory readouts, and macroscopic and microscopic appearances of the liver were analyzed.

Results

Four patients experienced cholestasis, mild jaundice, and elevated levels of serum direct bilirubin, γ-glutamyltransferase, or total bile acids. All patients had moderate-to-seve

SUBMITTER: Cheng J 

PROVIDER: S-EPMC9774490 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature