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The spectrum of Progressive Familial Intrahepatic Cholestasis diseases: Update on pathophysiology and emerging treatments
Eur J Med Genet. 2021 Aug 31;104317. doi: 10.1016/j.ejmg.2021.104317.Online ahead of print.
Antonia Felzen1, Henkjan J Verkade2
1Pediatric Gastroenterology and Hepatology, University Medical Center Groningen, University of Groningen, the Netherlands.
2Pediatric Gastroenterology and Hepatology, University Medical Center Groningen, University of Groningen, the Netherlands. Electronic address: firstname.lastname@example.org.
The Progressive Familial Intrahepatic Cholestasis (PFIC) disease spectrum encompasses a variety of genetic diseases that affect the bile production and the secretion of bile acids. Typically, the first presentation of these diseases is in early childhood, frequently followed by a severe course necessitating liver transplantation before adulthood. Except for transplantation, treatment modalities have been rather limited and frequently only aim at the symptoms of cholestasis, such as cholestatic pruritus. In recent years, progress has been made in understanding the pathophysiology of these diseases and new treatment modalities have been emerging. Herewith we summarize the latest developments in the field and formulate the current key questions and opportunities for further progress.