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Kyung Mo Kim 1 Article
Progressive Familial Intrahepatic Cholestasis in Korea: A Clinicopathological Study of Five Patients
Hyo Jeong Kang, Soon Auck Hong, Seak Hee Oh, Kyung Mo Kim, Han-Wook Yoo, Gu-Hwan Kim, Eunsil Yu
J Pathol Transl Med. 2019;53(4):253-260.   Published online May 16, 2019
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AbstractAbstract PDF
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.
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.
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 hepatocytes were observed in three and three patients with PFIC2, respectively, but not in the patient with PFIC1. Immunostaining showed total loss of bile salt export pump in two patients with PFIC2 and focal loss in two. Lobular and portal based fibrosis were more advanced in PFIC2 than in PFIC1. ATP8B1 and ABCB11 mutations were identified in one PFIC1 and two PFIC2 patients, respectively. One PFIC1 and three PFIC2 patients underwent liver transplantation (LT). At age 7 months, one PFIC2 patient was diagnosed with concurrent hepatocellular carcinoma and infantile hemangioma in an explanted liver. The patient with PFIC1 developed steatohepatitis after LT. One patient showed recurrence of PFIC2 after 10 years and underwent LT.
PFIC is not rare in patients with neonatal cholestasis of unknown origin. Proper clinicopathologic correlation and genetic testing can enable early detection and management.


Citations to this article as recorded by  
  • Progressive Familial Intrahepatic Cholestasis: A Study in Children From a Liver Transplant Center in India
    Sagar Mehta, Karunesh Kumar, Ravi Bhardwaj, Smita Malhotra, Neerav Goyal, Anupam Sibal
    Journal of Clinical and Experimental Hepatology.2022; 12(2): 454.     CrossRef
  • Liver transplantation in pediatric patients with progressive familial intrahepatic cholestasis: Single center experience of seven cases
    Jung-Man Namgoong, Shin Hwang, Hyunhee Kwon, Suhyeon Ha, Kyung Mo Kim, Seak Hee Oh, Seung-Mo Hong
    Annals of Hepato-Biliary-Pancreatic Surgery.2022; 26(1): 69.     CrossRef
  • Liver Transplantation for Pediatric Hepatocellular Carcinoma: A Systematic Review
    Christos D. Kakos, Ioannis A. Ziogas, Charikleia D. Demiri, Stepan M. Esagian, Konstantinos P. Economopoulos, Dimitrios Moris, Georgios Tsoulfas, Sophoclis P. Alexopoulos
    Cancers.2022; 14(5): 1294.     CrossRef
  • Morphology of transplanted liver in recurrent progressive familial intrahepatic cholestasis type 2
    I. M. Iljinsky, N. P. Mozheiko, O. M. Tsirulnikova
    Russian Journal of Transplantology and Artificial Organs.2021; 22(4): 192.     CrossRef

JPTM : Journal of Pathology and Translational Medicine