| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 8314974 | Clinica Chimica Acta | 2012 | 4 Pages |
Abstract
We diagnosed a jaundiced pediatric patient with BRIC-1 caused by 2 novel mutations (1226delA/2210delA) in the ATP8B1 gene. Rifampicin was effective in treating cholestasis. Results of urinary bile acid analyses during rifampicin treatment in this patient, suggested that rifampicin might stimulate 1β-, 2β-, and 4β-hydroxylation of bile acids in addition to 6α-hydroxylation.
Keywords
RFPCDCACYP3A4BSEPMRPATP8B1ALTHCAUGTTBACyPBRICUDCAGGTGC–MSuridine diphosphate glucuronosyltransferaseγ-glutamyltransferaseASTAspartate aminotransferaseAlanine aminotransferaseChenodeoxycholic acidhyocholic acidCholic acidtotal bile acidsUrsodeoxycholic acidRifampicinCytochrome P450gas chromatography–mass spectrometrypolymerase chain reactionPCRmultidrug-resistance proteinBile salt export pumpcreatinineBenign recurrent intrahepatic cholestasis
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Authors
Tatsuki Mizuochi, Akihiko Kimura, Atsushi Tanaka, Akina Muto, Hiroshi Nittono, Yoshitaka Seki, Tomoyuki Takahashi, Takao Kurosawa, Masayoshi Kage, Hajime Takikawa, Toyojiro Matsuishi,