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Original 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
- DOI: https://doi.org/10.4132/jptm.2019.05.03
- 6,213 View
- 206 Download
- 6 Web of Science
- 6 Crossref
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Abstract
PDF - 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 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.
Conclusions
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
Citations to this article as recorded by
- Progressive Familial Intrahepatic Cholestasis: A Descriptive Study in a Tertiary Care Center
Fahad I. Alsohaibani, Musthafa C. Peedikayil, Abdulaziz F. Alfadley, Mohamed K. Aboueissa, Faisal A. Abaalkhail, Saleh A. Alqahtani, Dirk Uhlmann
International Journal of Hepatology.2023; 2023: 1. CrossRef - Next-generation sequencing panel test results in pediatric patients with progressive familial intrahepatic cholestasis: a single-center experience
Ali TOPAK
The European Research Journal.2023; 9(6): 1438. CrossRef - 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
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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
- Progressive Familial Intrahepatic Cholestasis: A Descriptive Study in a Tertiary Care Center
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