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Half a century tales of familial hypercholesterolemia (FH) in Japan
https://doi.org/10.24517/00014408
https://doi.org/10.24517/00014408d5a1a148-4fca-43f5-83dd-c40fee28f0be
| 名前 / ファイル | ライセンス | アクション |
|---|---|---|
ME-PR-MABUCHI-H-189.pdf (2.8 MB)
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| Item type | 学術雑誌論文 / Journal Article(1) | |||||||
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| 公開日 | 2018-05-10 | |||||||
| タイトル | ||||||||
| タイトル | Half a century tales of familial hypercholesterolemia (FH) in Japan | |||||||
| 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 | |||||||
| ID登録 | ||||||||
| ID登録 | 10.24517/00014408 | |||||||
| ID登録タイプ | JaLC | |||||||
| 著者 |
Mabuchi, Hiroshi
× Mabuchi, Hiroshi |
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| 著者別表示 |
馬渕, 宏
× 馬渕, 宏
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| 書誌情報 |
Journal of Atherosclerosis and Thrombosis 巻 24, 号 3, p. 189-207, 発行日 2017-01-01 |
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| ISSN | ||||||||
| 収録物識別子タイプ | ISSN | |||||||
| 収録物識別子 | 1340-3478 | |||||||
| NCID | ||||||||
| 収録物識別子タイプ | NCID | |||||||
| 収録物識別子 | AA11018976 | |||||||
| DOI | ||||||||
| 関連タイプ | isIdenticalTo | |||||||
| 識別子タイプ | DOI | |||||||
| 関連識別子 | 10.5551/jat.RV16008 | |||||||
| 出版者 | ||||||||
| 出版者 | Japan Atherosclerosis Society = 日本動脈硬化学会 | |||||||
| 抄録 | ||||||||
| 内容記述タイプ | Abstract | |||||||
| 内容記述 | Familial hypercholesterolemia (FH) is a disease characterized by a triad: elevated low-density lipoprotein (LDL) cholesterol, tendon xanthomas, and premature coronary heart disease. Thus, it can be considered as a model disease for hypercholesterolemia and atherosclerotic cardiovascular disease (ASCVD). For the diagnosis of hetero-FH, the detection of Achilles tendon xanthomas by palpation or on X-ray is an indispensable diagnostic skill in clinical lipidology. To prevent the under-diagnosis and under-treatment of FH, the diagnostic criteria should be more convenient and user-friendly. For a patient with cutaneous or tendon xanthomas, the probability of FH is very high; however, an absence of xanthoma does not rule out FH. Brown and Goldstein elucidated the pathogenesis of FH by their work on LDL-receptor (LDL-R), for which they were awarded the Nobel Prize in 1985. In the 1950s, FH patients were divided into heterozygous (hetero-) and homozygous (homo-) FH, and diagnosing homo- and hetero-FH based on the phenotypic features of ASCVD or xanthomas frequently became difficult without the DNA analysis of FH genes. It is estimated that heterozygous mutations in the LDL-R or the proprotein convertase subtilisin/kexin type 9 (PCSK9) gene will be found at a combined frequency of 0.005, which corresponds to 1/199 people in the general population in Japan. | |||||||
| 内容記述 | ||||||||
| 内容記述タイプ | Other | |||||||
| 内容記述 | 出版者照会後に全文公開 | |||||||
| 権利 | ||||||||
| 権利情報 | Copyright © Japan Atherosclerosis Society / CC-BY NC SA | |||||||
| 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 | |||||||
| 関連URI | ||||||||
| 識別子タイプ | URI | |||||||
| 関連識別子 | https://www.jstage.jst.go.jp/browse/jat | |||||||
| 関連URI | ||||||||
| 識別子タイプ | URI | |||||||
| 関連識別子 | http://www.j-athero.org/ | |||||||
