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Congenital hyperinsulinism: From bench to bedside
http://hdl.handle.net/10129/2221
http://hdl.handle.net/10129/22211d8ebe35-0b02-4c20-a418-1c075fffd5af
| 名前 / ファイル | ライセンス | アクション |
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HirosakiMedJ_59_S82.pdf (713.9 kB)
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| Item type | 学術雑誌論文 / Journal Article(1) | |||||||||||
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| 公開日 | 2009-09-18 | |||||||||||
| タイトル | ||||||||||||
| タイトル | Congenital hyperinsulinism: From bench to bedside | |||||||||||
| 言語 | ||||||||||||
| 言語 | eng | |||||||||||
| 資源タイプ | ||||||||||||
| 資源タイプ識別子 | http://purl.org/coar/resource_type/c_6501 | |||||||||||
| 資源タイプ | journal article | |||||||||||
| 著者 |
Cosgrove, Karen E.
× Cosgrove, Karen E.
× Shepherd, Ruth M.
× Dunne, Mark J.
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| 著者所属 | ||||||||||||
| 値 | Faculty of Life Sciences, University of Manchester | |||||||||||
| 著者所属 | ||||||||||||
| 値 | Faculty of Life Sciences, University of Manchester | |||||||||||
| 著者所属 | ||||||||||||
| 値 | Faculty of Life Sciences, University of Manchester | |||||||||||
| 抄録 | ||||||||||||
| 内容記述タイプ | Abstract | |||||||||||
| 内容記述 | Congenital Hyperinsulinism in Infancy （HI） is a potentially-lethal condition of neonates and during early childhood. For many years the pathophysiology of this disorder was unknown. Recent advances in genetics, histopathology and molecule physiology have now revealed the causes of HI in a large cohort of patients. From defects in ion channel subunit genes to lesions in the control of pancreatic B-cell metabolism and anaplerosis, the causes of HI are both varied and numerous. However, in all cases they appear to share a common target protein - the ATPsensitive K-channel. The function of these channels is not only critical to the control of healthy normal insulin-secreting cell function, but “activating” defects in these channels lead to permanent neonatal diabetes and type 2 diabetes. HI can therefore arise through “channelopathies” of K-ATP channels: HI-KATP through gene defects in ABCC8 and KCNJ11 （Ch11.p15）; or as a result of “metabolopathies” through defects in the genes encoding glucokinase HI-GK （GCK, Ch.7p15-p13）, glutamate dehydrogenase HI-GDH （GLUD1, Ch.10q23.3） and Short-chain L-3-hydroxyacyl-CoA dehydrogenase HI-SCHAD（ HADHSC, Ch.4q22-q26）. Advances in the integration of genetic medicine and cell biology have provided key insights into the causes of HI, and this has been of key importance to the defi nition of pathogenesis. However, medical therapy for HI remains largely unchanged due to the availability of limited agents that are selective and specifi c for the termination of insulin release from β-cells. CHI can be a devastating disease, and in this review focuses upon the relationship between the basis of HI and current / future therapies, including stem cells. |
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| 引用 | ||||||||||||
| 内容記述タイプ | Other | |||||||||||
| 内容記述 | 弘前医学. 59(Suppl.), 2007, p.S82-S88 | |||||||||||
| 書誌情報 |
弘前医学 巻 59, 号 Supplement, p. S82-S88, 発行日 2007-11-29 |
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| ISSN | ||||||||||||
| 収録物識別子タイプ | ISSN | |||||||||||
| 収録物識別子 | 0439-1721 | |||||||||||
| 書誌レコードID | ||||||||||||
| 収録物識別子タイプ | NCID | |||||||||||
| 収録物識別子 | AN00211444 | |||||||||||
| フォーマット | ||||||||||||
| 内容記述タイプ | Other | |||||||||||
| 内容記述 | application/pdf | |||||||||||
| 著者版フラグ | ||||||||||||
| 出版タイプ | VoR | |||||||||||
| 出版タイプResource | http://purl.org/coar/version/c_970fb48d4fbd8a85 | |||||||||||
| 日本十進分類法 | ||||||||||||
| 主題Scheme | NDC | |||||||||||
| 主題 | 491.4 | |||||||||||
| NIIサブジェクト | ||||||||||||
| 主題Scheme | Other | |||||||||||
| 主題 | 基礎医学 | |||||||||||
| 出版者 | ||||||||||||
| 出版者 | 弘前大学大学院医学研究科・弘前医学会 | |||||||||||
| 資源タイプ | ||||||||||||
| 値 | Article | |||||||||||
