Title |
Intractable itch relieved by 4-phenylbutyrate therapy in patients with progressive familial intrahepatic cholestasis type 1
|
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Published in |
Orphanet Journal of Rare Diseases, July 2014
|
DOI | 10.1186/1750-1172-9-89 |
Pubmed ID | |
Authors |
Yasuhiro Hasegawa, Hisamitsu Hayashi, Sotaro Naoi, Hiroki Kondou, Kazuhiko Bessho, Koji Igarashi, Kentaro Hanada, Kie Nakao, Takeshi Kimura, Akiko Konishi, Hironori Nagasaka, Yoko Miyoshi, Keiichi Ozono, Hiroyuki Kusuhara |
Abstract |
Progressive familial intrahepatic cholestasis type 1 (PFIC1), an inherited liver disease caused by mutations in ATP8B1, progresses to severe cholestasis with a sustained intractable itch. Currently, no effective therapy has been established for PFIC1. Decreased function of the bile salt export pump (BSEP) in hepatocytes is suggested to be responsible for the severe cholestasis observed in PFIC1. We found a previously unidentified pharmacological effect of 4-phenylbutyrate (4PB) that increases the expression and function of BSEP. Here, we tested 4PB therapy in three patients with PFIC1. |
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