WEKO3
アイテム
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Thecausative gene for erythromelalgia, SCN9A, encodes a voltage-gated sodium channel, subtype Nav1.7. We report a caseof a 26-year-old woman with erythromelalgia. She had 15-year history of recurrent purpura and swelling in the lowerextremities. At 16 years of age, she was diagnosed with skin biopsy-proven leukocytoclastic vasculitis associated withunexpected hypogammaglobulinemia( IgG 320 mg/dL, IgA 12 mg/dL, IgM 35 mg/dL). Under the tentative diagnosisof refractory IgA vasculitis, she was treated with prednisolone and intravenous immunoglobulin administration.However, the therapeutic intervention was only partially effective. Because of an atypical clinical course of IgAvasculitis, a genetic analysis for erythromelalgia was conducted when at 25 years of age, which revealed apathogenetic mutation in the SCN9A gene. Her mother also had the same mutation. After the diagnosis oferythromelalgia, carbamazepine administration was initiated and the treatment was successful. Unusual clinicalmanifestations of refractory purpura and hypogammaglobulinemia sometimes occur in selected patients witherythromelalgia. 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長期に渡る繰り返す紫斑と低γグロブリン血症を主症状とした肢端紅痛症
http://hdl.handle.net/10129/00007787
http://hdl.handle.net/10129/0000778792fc66a8-1f17-4d11-8cc5-020149b18d18
名前 / ファイル | ライセンス | アクション |
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Hirosaki Med J 72-1-4_80.pdf (374.6 kB)
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Item type | 学術雑誌論文 / Journal Article(1) | |||||
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公開日 | 2022-04-26 | |||||
タイトル | ||||||
タイトル | 長期に渡る繰り返す紫斑と低γグロブリン血症を主症状とした肢端紅痛症 | |||||
言語 | ||||||
言語 | jpn | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | 肢端紅痛症 | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | 難治性紫斑 | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | 低γグロブリン血症 | |||||
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 |
唐沢, 貴生
× 唐沢, 貴生× 橋本, 峻× 佐藤, 理子× 藤田, 真司× 相澤, 知美× 津川, 浩二× 土岐, 力× 金崎, 里香× 佐藤, 知彦× 工藤, 耕× 照井, 君典× 田中, 完 |
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著者(ヨミ) | ||||||
姓名 | カラサワ, タカオ | |||||
著者(ヨミ) | ||||||
姓名 | ハシモト, シュン | |||||
著者(ヨミ) | ||||||
姓名 | サトウ, リコ | |||||
著者(ヨミ) | ||||||
姓名 | フジタ, マサシ | |||||
著者(ヨミ) | ||||||
姓名 | アイザワ, トモミ | |||||
著者(ヨミ) | ||||||
姓名 | ツガワ, コウジ | |||||
著者(ヨミ) | ||||||
姓名 | トキ, ツトム | |||||
著者(ヨミ) | ||||||
姓名 | カネザキ, リカ | |||||
著者(ヨミ) | ||||||
姓名 | サトウ, トモヒコ | |||||
著者(ヨミ) | ||||||
姓名 | クドウ, コウ | |||||
著者(ヨミ) | ||||||
姓名 | テルイ, キミノリ | |||||
著者(ヨミ) | ||||||
姓名 | タナカ, ヒロシ | |||||
著者別名 | ||||||
姓名 | karasawa, Takao | |||||
著者別名 | ||||||
姓名 | Hashimoto, Shun | |||||
著者別名 | ||||||
姓名 | Sato, Riko | |||||
著者別名 | ||||||
姓名 | Fujita, Masashi | |||||
著者別名 | ||||||
姓名 | Aizawa, Tomomi | |||||
著者別名 | ||||||
姓名 | Tsugawa, Koji | |||||
著者別名 | ||||||
姓名 | Toki, Tsutomu | |||||
著者別名 | ||||||
姓名 | Kanezaki, Rika | |||||
著者別名 | ||||||
姓名 | Sato, Tomohiko | |||||
著者別名 | ||||||
姓名 | Kudo, Ko | |||||
著者別名 | ||||||
姓名 | Terui, Kiminori | |||||
著者別名 | ||||||
姓名 | Tanaka, Hiroshi | |||||
著者所属 | ||||||
弘前大学医学部附属病院小児科, 弘前大学大学院医学研究科小児科学講座 | ||||||
著者所属 | ||||||
弘前大学医学部附属病院小児科 | ||||||
著者所属 | ||||||
弘前大学医学部附属病院小児科 | ||||||
著者所属 | ||||||
弘前大学医学部附属病院小児科 | ||||||
著者所属 | ||||||
弘前大学医学部附属病院小児科 | ||||||
著者所属 | ||||||
弘前大学医学部附属病院小児科 | ||||||
著者所属 | ||||||
弘前大学大学院医学研究科小児科学講座 | ||||||
著者所属 | ||||||
弘前大学大学院医学研究科小児科学講座 | ||||||
著者所属 | ||||||
弘前大学医学部附属病院小児科 | ||||||
著者所属 | ||||||
弘前大学医学部附属病院小児科 | ||||||
著者所属 | ||||||
弘前大学医学部附属病院小児科, 弘前大学大学院医学研究科小児科学講座 | ||||||
著者所属 | ||||||
弘前大学医学部附属病院小児科, 弘前大学教育学部教育保健講座 | ||||||
抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | 肢端紅痛症は四肢末端の発赤,熱感,灼熱痛を認める稀な疾患で,Na チャンネルαサブユニットをコードする遺伝子SCN9A の関与が示唆されている.症例は現在26歳の女性.15歳時,初めて下肢の紫斑,浮腫,疼痛が出現し,皮膚生検で白血球破砕性血管炎と診断された.16歳時,低γグロブリン血症 (IgG 320 mg/dL, IgA 12 mg/dL, IgM 35 mg/dL)を認め当科へ紹介された.血管炎症候群が疑われる臨床症状に対しプレドニゾロンや免疫グロブリン大量療法を中心とした治療を行ったが再燃を繰り返した.25歳時,肢端紅痛症関連遺伝子検査で母子ともにSCN9A 遺伝子変異を認め肢端紅痛症と診断,カルバマゼピンの投与を開始し臨床症状の改善が得られた.肢端紅痛症では,時に難治性紫斑や低γグロブリン血症など非典型的な臨床症状が前面に立つことが示された.本症例は肢端紅痛症の疾患概念拡大に寄与する可能性がある. Erythromelalgia is a rare clinical entity that manifests as redness, heat, and burning pain in the extremities. Thecausative gene for erythromelalgia, SCN9A, encodes a voltage-gated sodium channel, subtype Nav1.7. We report a caseof a 26-year-old woman with erythromelalgia. She had 15-year history of recurrent purpura and swelling in the lowerextremities. At 16 years of age, she was diagnosed with skin biopsy-proven leukocytoclastic vasculitis associated withunexpected hypogammaglobulinemia( IgG 320 mg/dL, IgA 12 mg/dL, IgM 35 mg/dL). Under the tentative diagnosisof refractory IgA vasculitis, she was treated with prednisolone and intravenous immunoglobulin administration.However, the therapeutic intervention was only partially effective. Because of an atypical clinical course of IgAvasculitis, a genetic analysis for erythromelalgia was conducted when at 25 years of age, which revealed apathogenetic mutation in the SCN9A gene. Her mother also had the same mutation. After the diagnosis oferythromelalgia, carbamazepine administration was initiated and the treatment was successful. Unusual clinicalmanifestations of refractory purpura and hypogammaglobulinemia sometimes occur in selected patients witherythromelalgia. This case may contribute to the expansion of phenotypic presentation of erythromelalgia. |
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書誌情報 |
弘前医学 巻 72, 号 1-4, p. 80-83, 発行日 2022-03-10 |
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収録物識別子タイプ | ISSN | |||||
収録物識別子 | 0439-1721 | |||||
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収録物識別子タイプ | NCID | |||||
収録物識別子 | AN00211444 | |||||
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出版タイプ | VoR | |||||
出版タイプResource | http://purl.org/coar/version/c_970fb48d4fbd8a85 | |||||
その他のタイトル | ||||||
その他のタイトル | Erythromelalgia presenting as recurrent purpura and hypogammaglobulinemia: A case report | |||||
出版者 | ||||||
出版者 | 弘前大学大学院医学研究科 | |||||
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値 | Article |