2012 Fiscal Year Final Research Report
Establishment of genetic diagnosis and medical treatment in patients with inborn errors of bile acid metabolism: Aiming to prevent liver transplantation
| Project/Area Number |
22791008
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Single-year Grants |
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| Research Field |
Pediatrics
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| Research Institution | Kurume University |
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Principal Investigator |
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| Project Period (FY) |
2010 – 2012
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| Keywords | 遺伝学 / 酵素 / 内科 / 移植・再生医療 |
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| Research Abstract |
Inborn errors of bile acid metabolism (IEBAM) have symptoms of cholestasis in children and the prognosis is poor due to cirrhosis unless diagnosis is made and treatment is initiated at an early stage of cholestasis. It is important to diagnose and treat patients with IEBAM at an early stage of cholestasis because we can treat them with medical therapy if early. We diagnose patients with IEBAM by bile acid analysis using Gas Chromatography - Mass Spectrometry and genetic analysis using direct sequence. We diagnosed and have been treating 6 patients with IEBAM during this study period. We have been studying clinical course, liver function test, and bile acid analysis in all of them. Our study demonstrates that the early diagnosis and treatment in patients with IEBAS are useful because all of them have had good clinical course. We can treat the patients with IEBAS with oral chenodeoxycholic acid if we diagnose them at an early stage. It is necessary that pediatrician know IEBAM becuse IEBAM are very rare disease and the diagnosis need special examinations such as bile acid analysis and genetic analysis. Distinctive findings of IEBAM are normal serum concentration of γ-GTP and total bile acid; however children present with cholestasis. We presented this study at the meeting and congress associated with pediatric liver disease. Moreover, we reported this study as the articles in Japanese and English, and investigated the pathophysiology and treatment of IEBAM. Currently, we are writing a paper summarizing the study of IEBAM over the past few years.
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[Journal Article] Two neonatal cholestasis patients with mutations in the SRD5B1 (AKR1D1) gene: diagnosis and bile acid profiles during chenodeoxycholic acid treatment.2013
Author(s)
Seki Y, Mizuochi T, Kimura A, Takahashi T, Ohtake A, Hayashi S, Morimura T, Ohno Y, Hoshina T, Ihara K, Takei H, Nittono H, Kurosawa T, Homma K, Hasegawa T, Matsuishi T.
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Journal Title
J Inherit Metab Dis.
Volume: 36(3)
Pages: 565-73
DOI
Peer Reviewed
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[Journal Article] Oxysterol changes along with cholesterol and vitamin D changes in adult phenylketonuric patients diagnosed by newborn mass-screening.2013
Author(s)
Nagasaka H, Okano Y, Kimura A, Mizuochi T, Sanayama Y, Takatani T, Nakagawa S, Hasegawa E, Hirano K, Mochizuki H, Ohura T, Ishige-Wada M, Usui H, Yorifuji T, Tsukahara H, Hirayama S, Ohtake A, Yamato S, Miida T.
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Journal Title
Clin Chim Acta.
Volume: 416
Pages: 54-9
Peer Reviewed
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[Journal Article] Detection of Δ4-3-oxo-steroid 5β-reductase deficiency by LC-ESI-MS/MS measurement of urinary bile acids.2012
Author(s)
Muto A, Takei H, Unno A, Murai T, Kurosawa T, Ogawa S, Iida T, Ikegawa S, Mori J, Ohtake A, Hoshina T, Mizuochi T, Kimura A, Hofmann AF, Hagey LR, Nittono H.
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Journal Title
J Chromatogr B Analyt Technol Biomed Life Sci.
Volume: 900
Pages: 24-31
DOI
Peer Reviewed
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[Journal Article] Characterization of urinary bile acids in a pediatric BRIC-1 patient: effect of rifampicin treatment.2012
Author(s)
Mizuochi T, Kimura A, Tanaka A, Muto A, Nittono H, Seki Y, Takahashi T, Kurosawa T, Kage M, Takikawa H, Matsuishi T.
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Journal Title
Clin Chim Acta.
Volume: 413(15-16)
Pages: 1301-4
DOI
Peer Reviewed
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[Journal Article] Successful heterozygous living donor liver transplantation for an oxysterol 7α-hydroxylase deficiency in a Japanese patient.2011
Author(s)
Mizuochi T, Kimura A, Suzuki M, Ueki I, Takei H, Nittono H, Kakiuchi T, Shigeta T, Sakamoto S, Fukuda A, Nakazawa A, Shimizu T, Kurosawa T, Kasahara M.
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Journal Title
Liver Transpl
Volume: 17(9)
Pages: 1059-65
DOI
Peer Reviewed
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[Journal Article] Molecular genetic and bile acid profiles in two Japanese patients with 3beta-hydroxy-DELTA5-C27-steroid dehydrogenase/isomerase deficiency.2010
Author(s)
Mizuochi T, Kimura A, Ueki I, Takahashi T, Hashimoto T, Takao A, Seki Y, Takei H, Nittono H, Kurosawa T, Matsuishi T.
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Journal Title
Pediatr Res.
Volume: 68(3)
Pages: 258-63
DOI
Peer Reviewed
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