ミトコンドリア病診療マニュアル2023

出版社： 診断と治療社
著者：
発行日： 2023-06-05
分野： 臨床医学：内科  >  小児科学一般
ISBN： 9784787825704
電子書籍版： 2023-06-05 （初版第1刷）
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商品紹介

本書初版の発刊により，わが国のミトコンドリア病診療は一定の質が担保されるようになった．その後現在に至るまでに，多くのエビデンスが創出され遺伝子型や予後に関する報告もあり，これらを含めた改訂版である．新たにLeber遺伝性視神経症，ミトコンドリア腎症・糖尿病・ニューロパチー・難聴を加え，ミトコンドリア病の病型をほぼ網羅した．L-アルギニンやタウリン，最新のバイオマーカーであるGDF15も取り上げている．

目次

  • 第1章 総 論
    1 ミトコンドリア病の疾患概念
    2 ミトコンドリア病の臨床症状
    3 ミトコンドリア病の診断方法
    4 ミトコンドリア病の全般的な治療法
    5 治療可能な疾患
    6 てんかんの治療
    7 生殖補助医療
    8 ミトコンドリア病の栄養療法
    9 ミトコンドリア病の日常生活
    10 ミトコンドリア病の遺伝カウンセリング
    11 ミトコンドリア病における全身麻酔と鎮静
    12 小児から成人への移行期医療の課題と対応


    第2章 各 論

    A Leigh脳症
    CQ1 Leigh脳症とはどのような疾患ですか？
    CQ2 Leigh脳症の症状は？
    CQ3 Leigh脳症の診断の進め方は？
    CQ4 Leigh脳症の鑑別診断は？
    CQ5 Leigh脳症の一般的な治療法は？
    CQ6 Leigh脳症の特異的な治療法は？
    CQ7 Leigh脳症の予後は？

    B ミトコンドリア肝症
    CQ8 ミトコンドリア肝症とはどのような疾患ですか？
    CQ9 ミトコンドリア肝症の頻度と予後は？
    CQ10 ミトコンドリア肝症の症状と疑う患者は？
    CQ11 ミトコンドリア肝症の鑑別診断は？
    CQ12 ミトコンドリア肝症の診断の進め方は？
    CQ13 ミトコンドリア肝症の病理所見の特徴は？
    CQ14 ミトコンドリア肝症の特異的な治療は？

    C ミトコンドリア心筋症
    CQ15 ミトコンドリア心筋症とはどのような疾患ですか？
    CQ16 ミトコンドリア心筋症の症状は？
    CQ17 ミトコンドリア心筋症の診断の進め方は？
    CQ18 ミトコンドリア心筋症の遺伝子診断は？
    CQ19 ミトコンドリア心筋症と鑑別すべき疾患は？
    CQ20 ミトコンドリア心筋症に合併する不整脈とその治療は？
    CQ21 m.3243A＞Gバリアントを有する成人心筋症の臨床像は？
    CQ22 ミトコンドリア心筋症の治療は？

    D 新生児ミトコンドリア病
    CQ23 新生児ミトコンドリア病とはどのような疾患ですか？
    CQ24 新生児ミトコンドリア病の発症時期，初発症状は？
    CQ25 新生児ミトコンドリア病の原因遺伝子は？
    CQ26 どのようなときに新生児ミトコンドリア病を疑うか？
    CQ27 新生児ミトコンドリア病を疑った場合の診断の進め方は？
    CQ28 新生児ミトコンドリア病を疑った場合の治療は？

    E MELAS
    CQ29 MELASとはどのような疾患ですか？
    CQ30 MELASの疫学は？
    CQ31 MELASの中枢神経症状は？
    CQ32 MELASの中枢神経外の症状は？
    CQ33 MELASの診断の進め方は？
    CQ34 MELASの遺伝学的検査とその注意点は？
    CQ35 MELASの特異的な治療は？
    CQ36 MELAS患者への生活，学校，就労への指導の仕方は？
    CQ37 MELASの予後は？

    F MERRF
    CQ38 MERRFとはどのような疾患ですか？
    CQ39 MERRFでみられやすい症状や所見は？
    CQ40 MERRFの診断の進め方は？
    CQ41 MERRFの遺伝学的な特徴は？
    CQ42 MERRFの治療および予後は？
    CQ43 MERRFでみられるてんかん発作の特徴と治療は？

    G CPEO/KSS
    CQ44 CPEO/KSSとはどのような疾患ですか？
    CQ45 CPEO/KSSの遺伝形式と原因は？
    CQ46 CPEO/KSSの疫学は？
    CQ47-a CPEO/KSSの症状は？
    CQ47-b CPEO/KSSの眼症状・所見の特徴は？
    CQ48 CPEO/KSSにみられる心伝導障害，心合併症は？
    CQ49 CPEOを伴った特殊な病態は？
    CQ50 CPEO/KSSの遺伝子検査以外の検査は？
    CQ51 CPEO/KSSの鑑別診断は？
    CQ52-a CPEO/KSSの特異的な治療は？
    CQ52-b CPEO/KSSの眼合併症に対する治療は？

    H Leber遺伝性視神経症（眼疾患）
    CQ53 Leber遺伝性視神経症とはどのような疾患ですか？
    CQ54 Leber遺伝性視神経症の症状は？
    CQ55 Leber遺伝性視神経症の診断の進め方は？
    CQ56 Leber遺伝性視神経症で知られている遺伝子バリアントは？
    CQ57 Leber遺伝性視神経症の特異的な治療法は？

    I ミトコンドリア腎症
    CQ58 ミトコンドリア腎症とはどのような疾患ですか？
    CQ59 ミトコンドリア腎症の臨床像は？
    CQ60 どのようなときにミトコンドリア腎症を疑うか？
    CQ61 ミトコンドリア腎症の診断法は？
    CQ62 ミトコンドリア腎症の予後は？
    CQ63 ミトコンドリア腎症の治療は？

    J ミトコンドリア糖尿病
    CQ64 ミトコンドリア糖尿病とはどのような疾患ですか？
    CQ65 ミトコンドリア糖尿病の症状は？
    CQ66 ミトコンドリア糖尿病の診断の進め方は？
    CQ67 ミトコンドリア糖尿病の治療は？
    CQ68 ミトコンドリア糖尿病の診療上，注意すべき症状は？

    K ミトコンドリアニューロパチー
    CQ69 ミトコンドリアニューロパチーの頻度は？
    CQ70 ミトコンドリアニューロパチーの原因遺伝子と合併症は？
    CQ71 特殊なニューロパチー （1）MNGIEとは？
    CQ72 特殊なニューロパチー （2）NARP syndromeとは？
    CQ73 特殊なニューロパチー （3）SANDOとは？
    CQ74 CMTの原因となるミトコンドリア関連遺伝子異常は？ （1）MFN2
    CQ75 CMTの原因となるミトコンドリア関連遺伝子異常は？ （2）その他の遺伝子

    L ミトコンドリア難聴
    CQ76 ミトコンドリア難聴とはどのような疾患ですか？
    CQ77 ミトコンドリア難聴の症状は？
    CQ78 どのような難聴に対してミトコンドリア関連遺伝子の検査を行うべきか？
    CQ79 ミトコンドリア病の病型別の難聴と全身症状の合併は？
    CQ80 ミトコンドリア難聴の遺伝子バリアントは？
    CQ81 ミトコンドリア難聴に人工内耳は有効か？


    巻末資料
    A ミトコンドリア病の患者会・役立つWebサイト
    B ミトコンドリア病で受けることのできる補助制度・サービス

この書籍の参考文献

参考文献のリンクは、リンク先の都合等により正しく表示されない場合がありますので、あらかじめご了承下さい。

本参考文献は電子書籍掲載内容を元にしております。

[第1章] 総論

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[第2章] 各論

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