Progressive Familial Intrahepatic Cholestasis in Korea: A Clinicopathological Study of Five Patients.

ABSTRACT:

Background

Progressive familial intrahepatic cholestasis (PFIC) is a heterogeneous group of autosomal recessive liver diseases that present as neonatal cholestasis. Little is known of this disease in Korea.

Methods

The records of five patients histologically diagnosed with PFIC, one with PFIC1 and four with PFIC2, by liver biopsy or transplant were reviewed, and ATP8B1 and ABCB11 mutation status was analyzed by direct DNA sequencing. Clinicopathological characteristics were correlated with genetic mutations.

Results

The first symptom in all patients was jaundice. Histologically, lobular cholestasis with bile plugs was the main finding in all patients, whereas diffuse or periportal cholestasis was identified only in patients with PFIC2. Giant cells and ballooning of he

SUBMITTER: Kang HJ 

PROVIDER: S-EPMC6639708 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature