Abstract | BACKGROUND: METHODS: To confirm the diagnosis of BRIC-1 and demonstrate the effect of rifampicin treatment on bile acid metabolism, we analyzed the patient's ATP8B1 gene and bile acids in urine. RESULTS: CONCLUSIONS: 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.
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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 |
Journal | Clinica chimica acta; international journal of clinical chemistry
(Clin Chim Acta)
Vol. 413
Issue 15-16
Pg. 1301-4
(Aug 16 2012)
ISSN: 1873-3492 [Electronic] Netherlands |
PMID | 22525741
(Publication Type: Case Reports, Journal Article)
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Copyright | Copyright © 2012 Elsevier B.V. All rights reserved. |
Chemical References |
- Bile Acids and Salts
- Cholic Acids
- muricholic acid
- Adenosine Triphosphatases
- ATP8B1 protein, human
- Cholic Acid
- Rifampin
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Topics |
- Adenosine Triphosphatases
(genetics)
- Bile Acids and Salts
- Child
- Cholestasis
(drug therapy, genetics)
- Cholestasis, Intrahepatic
(drug therapy, genetics, urine)
- Cholic Acid
(metabolism, urine)
- Cholic Acids
(metabolism, urine)
- Female
- Humans
- Hydroxylation
- Mutation
- Rifampin
(pharmacology, therapeutic use)
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