Hiroki Kondou, Satoshi Nakano, Tadahaya Mizuno, Kazuhiko Bessho, Yasuhiro Hasegawa, Atsuko Nakazawa, Ken Tanikawa, Yoshihiro Azuma, Tatsuya Okamoto, Ayano Inui, Kazuo Imagawa, Mureo Kasahara, Yoh Zen, Mitsuyoshi Suzuki, Hisamitsu Hayashi
BACKGROUND: Progressive familial intrahepatic cholestasis type 2 (PFIC2) is an ultra-rare disease caused by mutations in the ABCB11 gene. This study aimed to understand the course of PFIC2 during the native liver period. METHODS: From November 2014 to October 2015, a survey to identify PFIC2 patients was conducted in 207 hospitals registered with the Japanese Society of Pediatric Gastroenterology, Hepatology, and Nutrition. Investigators retrospectively collected clinical data at each facility in November 2018 using pre-specified forms...
February 10, 2024: Orphanet Journal of Rare Diseases