Progress in the treatment of progressive familial intrahepatic cholestasis

VernacularTitle:进行性家族性肝内胆汁淤积症的治疗进展
Author: Teng LIU ¹ ; Jianshe WANG
Author Information

1. 复旦大学附属儿科医院感染传染科，上海　201102
Keywords: Jaundice; Progressive familial intrahepatic cholestasis; Gene; Therapeutic
From: Chinese Journal of Hepatology 2024;32(9):772-776
CountryChina
Language:Chinese
Abstract: Progressive familial intrahepatic cholestasis (PFIC) is an important cause of liver-related death or transplantation in children. The PFIC spectrum is expanding, twelve types of PFIC are currently included in the Online Mendelian Inheritance in Man (OMIM) database. With the increase of PFIC types and the inconsistence of certain types in numbering, the current numbering classification of PFIC is confusing, so the experts in the field recommend using the corresponding mutant gene/ protein defect to name different type of PFIC except for PFIC type 1-3. The clarification of the genotype-phenotype relationship and/or the establishment of phenotypic predictors significantly improved the management of patients with PFIC. Odevixibat and maralixibat, inhibitors of the apical sodium ion-dependent bile acid transporter on the intestinal epithelial cells, were approved in European Union and the United States for the treatment of PFIC pruritus in 2021, expanding the treatment options for PFIC. Additionally, personalized treatments for specific mutations and novel gene therapy is promising.