先天性凝固阻止因子欠乏症(antithrombin, protein C, protein S 欠損症)
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概要
- 論文の詳細を見る
Points(1) 先天性凝固阻止因子欠乏症の多くは血栓性素因を来す．(2) 家族性や反復性，比較的若年発症，腸管膜静脈や上矢状静脈など非典型的部位での血栓症発症などの特徴ある臨床像を呈することが多い．(3) 日本人の血栓性素因の原因となる先天性凝固阻止因子欠乏症にはAT欠損症，PC欠損症，PS欠損症によるものが多く，それぞれの原因遺伝子変異が同定されているものもある．(4) 特にPS欠損症を来すPS K196E変異は，日本人の55人に1人がヘテロ接合体にもつ遺伝子多型（SNP）の一つで，軽度にPS活性が低下する．(5) PC欠損症のホモ接合体では新生児電撃性紫斑病の発症報告がみられる．
- 2009-10-01
著者
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小嶋 哲人
名古屋大学医学部保健学科
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小嶋 哲人
Department Of Transfusion Medicine Cardiology And Hematology Nagoya University Hospital
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小嶋 哲人
名古屋大学医学部第一内科
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小嶋 哲人
名古屋大学 保健
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Kojima Tetsuhito
名古屋市立大学 医学系研究科血液腫瘍内科学
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Kojima Tetsuhito
Department Of Transfusion Medicine Cardiology And Hematology Nagoya University Hospital
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Kaname Tadashi
Depatment Of Developmental Genetics Institute Of Molecular Embryology And Genetics Kumamoto Universi
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Kimura T
Peptide Inst. Inc. Osaka Jpn
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