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繰り返す動悸を契機に診断に至った家族歴を有さない甲状腺ホルモン不応症の1例
https://uoeh-u.repo.nii.ac.jp/records/754
https://uoeh-u.repo.nii.ac.jp/records/75407feee2b-3ba1-4852-9de7-e32c7a894445
名前 / ファイル | ライセンス | アクション |
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S00038404 (1.6 MB)
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Item type | 学術雑誌論文 / Journal Article(1) | |||||
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公開日 | 2020-07-21 | |||||
タイトル | ||||||
タイトル | 繰り返す動悸を契機に診断に至った家族歴を有さない甲状腺ホルモン不応症の1例 | |||||
タイトル | ||||||
言語 | en | |||||
タイトル | A Case of Resistance to Thyroid Hormone (RTH) with a Negative Family History with Diagnosis Based on Persistent Palpitations | |||||
言語 | ||||||
言語 | eng | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | 甲状腺ホルモン不応症 | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | 甲状腺ホルモン受容体ベータ | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | 不適切TSH分泌症候群 | |||||
キーワード | ||||||
言語 | en | |||||
主題Scheme | Other | |||||
主題 | resistance to thyroid hormone | |||||
キーワード | ||||||
言語 | en | |||||
主題Scheme | Other | |||||
主題 | thyroid hormone receptor β | |||||
キーワード | ||||||
言語 | en | |||||
主題Scheme | Other | |||||
主題 | syndrome of inappropriate secretion of thyroid stimulating hormone | |||||
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 | |||||
記事区分 | ||||||
値 | Case Report(s) | |||||
著者 |
黒住 , 旭
× 黒住 , 旭× 岡田 , 洋右× 新生 , 忠司× 田中, 良哉× Kurozumi, Akira× Okada, Yosuke× Arao, Tadashi× Tanaka, Yoshiya |
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抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | Approximately 140 different mutations of thyroid hormone receptor β (TRβ) have been identified in resistance to thyroid hormone (RTH). We report herein a middle-aged man with a negative family history who was diagnosed with RTH based on persistent palpitations. Genetic analysis showed a TRβ mutation causing the substitution of alanine for proline 453 (P453A) in exon 10. Since treatment of RTH is different from that of Graves’ disease and thyroid stimulating hormone-producing adenoma (TSHoma), a genetic analysis should be performed even in patients who have a negative family history of RTH and who are free of TSHoma when they present with persistent inappropriate secretion of thyroid stimulating hormone (SITSH). 甲状腺ホルモン不応症(RTH)は,これまで約140種類の甲状腺ホルモン受容体ベータ(TRβ)遺伝子変異が同定されている.今回家族歴は有さないが,繰り返す動悸を契機にRTHの診断に至った中年男性の1例を経験したので報告する.TRβ遺伝子解析の結果,第10エクソン,453番目のプロリンからアラニンへの変異を認めた.RTH はバセドウ病やTSH(thyroid stimulating hormone)産生腫瘍(TSHoma)とは治療法がまったく異なるため,RTHの家族歴を有さなくても,不適切TSH分泌症候群が持続しTSHomaが否定的な場合には,積極的に遺伝子解析を行うことが重要である. |
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書誌情報 |
産業医科大学雑誌 en : Journal of UOEH 巻 38, 号 4, p. 291-296, 発行日 2016-12-01 |
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出版者 | ||||||
出版者 | 産業医科大学(産業医科大学学会) | |||||
ISSN | ||||||
収録物識別子タイプ | ISSN | |||||
収録物識別子 | ISSN 0387-821X(PRINT), ISSN 2187-2864(ONLINE) | |||||
関連サイト | ||||||
識別子タイプ | URI | |||||
関連識別子 | https://www.uoeh-u.ac.jp/kouza/journal/intro_e.html | |||||
関連名称 | Journal of UOEH | |||||
関連サイト | ||||||
識別子タイプ | URI | |||||
関連識別子 | https://www.uoeh-u.ac.jp/kouza/journal/intro_j.html | |||||
関連名称 | 産業医科大学雑誌 | |||||
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 |