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Plasma globotriaosylsphingosine level as a primary screening target for Fabry disease in patients with left ventricular hypertrophy
http://hdl.handle.net/10271/00004220
http://hdl.handle.net/10271/0000422045b92280-2f9d-4646-bb86-dfad7934e387
| 名前 / ファイル | ライセンス | アクション |
|---|---|---|
論文本文 (508.1 kB)
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| Item type | 学位論文 / Thesis or Dissertation(1) | |||||||
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| 公開日 | 2022-12-01 | |||||||
| タイトル | ||||||||
| タイトル | Plasma globotriaosylsphingosine level as a primary screening target for Fabry disease in patients with left ventricular hypertrophy | |||||||
| 言語 | en | |||||||
| 言語 | ||||||||
| 言語 | eng | |||||||
| キーワード | ||||||||
| 主題 | α-galactosidase A | |||||||
| キーワード | ||||||||
| 主題 | Fabry disease | |||||||
| キーワード | ||||||||
| 主題 | Left ventricular hypertrophy | |||||||
| キーワード | ||||||||
| 主題 | Lyso-Gb3 | |||||||
| キーワード | ||||||||
| 主題 | Primary screening | |||||||
| 資源タイプ | ||||||||
| 資源タイプ識別子 | http://purl.org/coar/resource_type/c_db06 | |||||||
| 資源タイプ | doctoral thesis | |||||||
| アクセス権 | ||||||||
| アクセス権 | open access | |||||||
| アクセス権URI | http://purl.org/coar/access_right/c_abf2 | |||||||
| その他のタイトル | ||||||||
| その他のタイトル | 左室肥大患者におけるPlasma globotriaosylsphingosineを使ったファブリー病の一次スクリーニング | |||||||
| 著者 |
山下, 哲史
× 山下, 哲史
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| 書誌情報 |
en : Circulation Journal 巻 83, 号 9, p. 1901-1907, 発行日 2019-08-23 |
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| 出版者 | ||||||||
| 出版者 | 日本循環器学会 | |||||||
| 言語 | ja | |||||||
| 出版者 | ||||||||
| 出版者 | The Japanese Circulation Society | |||||||
| 言語 | en | |||||||
| 権利 | ||||||||
| 言語 | en | |||||||
| 権利情報 | Copyright 2019 THE JAPANESE CIRCULATION SOCIETY | |||||||
| 権利 | ||||||||
| 言語 | en | |||||||
| 権利情報 | This article is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives (CC BY-NC-ND) License (https://creativecommons.org/licenses/by-nc-nd/4.0/). | |||||||
| 抄録 | ||||||||
| 内容記述タイプ | Abstract | |||||||
| 内容記述 | Background: Although previous studies have suggested a certain prevalence of Fabry disease (FD) in left ventricular hypertrophy (LVH) patients, the screening of FD is difficult because of its wide-ranging clinical phenotypes. We aimed to clarify the utility of combined measurement of plasma globotriaosylsphingosine (lyso-Gb3) concentration and α-galactosidase A activity (α-GAL) as a primary screening of FD in unexplained LVH patients. Methods and Results: Between 2014 and 2016, both lyso-Gb3 and α-GAL were measured in 277 consecutive patients (male 215, female 62, age 25?79 years) with left ventricular wall thickness >12 mm on echocardiogram: 5 patients (1.8%) screened positive (2 (0.7%) showed high lyso-Gb3 and 4 (1.4%) had low α-GAL levels). Finally, 2 patients (0.7%) were diagnosed with clinically significant FD. In 1 case, a female heterozygote with normal α-GAL levels had genetic variants of unknown significance and was diagnosed as FD by endomyocardial biopsy. The other case was a male chronic renal failure patient requiring hemodialysis, and he had a p.R112H mutation. In both cases there were high lyso-Gb3 levels. Conclusions: The serum lyso-Gb3 level can be relevant for clinically significant FD, and combined measurement of lyso-Gb3 and α-GAL can provide better screening of FD in unexplained LVH patients. |
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| 言語 | en | |||||||
| 学位名 | ||||||||
| 学位名 | 博士（医学） | |||||||
| 学位の区分 | ||||||||
| 内容記述 | doctoral | |||||||
| 学位の分野 | ||||||||
| 内容記述 | 医学系研究科 | |||||||
| 学位授与機関 | ||||||||
| 学位授与機関識別子Scheme | kakenhi | |||||||
| 学位授与機関識別子 | 13802 | |||||||
| 学位授与機関名 | 浜松医科大学 | |||||||
| 学位授与年月日 | ||||||||
| 学位授与年月日 | 2022-03-14 | |||||||
| 学位授与番号 | ||||||||
| 学位授与番号 | 甲第907号 | |||||||
| ISSN | ||||||||
| 収録物識別子タイプ | PISSN | |||||||
| 収録物識別子 | 1346-9843 | |||||||
| EISSN | ||||||||
| 収録物識別子タイプ | EISSN | |||||||
| 収録物識別子 | 1347-4820 | |||||||
| PubMed番号 | ||||||||
| 識別子タイプ | PMID | |||||||
| 関連識別子 | 31308318 | |||||||
| 医中誌論文ID | ||||||||
| 識別子タイプ | ICHUSHI | |||||||
| 関連識別子 | 2020109846 | |||||||
| 出版社DOI | ||||||||
| 識別子タイプ | DOI | |||||||
| 関連識別子 | https://doi.org/10.1253/circj.CJ-19-0110 | |||||||
| 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 | |||||||
