Article
Gradual improvement of liver function after administration of ursodeoxycholic acid in an infant with a novel ABCB11 gene mutation with phenotypic continuum between BRIC2 and PFIC2.
European journal of gastroenterology & hepatology - 1 Nov 2007
Takahashi Atsushi, Hasegawa Makoto, Sumazaki Ryo, Suzuki Makoto, Toki Fumiaki, Suehiro Taketoshi, Onigata Kazumichi, Tomomasa Takeshi, Suzuki Tomoko, Matsui Akira, Morikawa Akihiro, Kuwano Hiroyuki
Abstract excerpt
OBJECT: The authors report the case of a boy with PFIC type 2 or BRIC type 2 who suffered from liver dysfunction at 2 months after birth. METHODS AND RESULTS: A liver biopsy specimen revealed mild liver cirrhosis, and the findings resembled those observed in Byler disease. Genetic examination revealed a normal familial intrahepatic cholestasis-1 gene, but a heterozygous mutation for the ABCB11, C1620A (F540L),...
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