ライソゾーム病―最新の病態，診断，治療の進歩―　改訂第2版

出版社： 診断と治療社
著者：
発行日： 2023-10-20
分野： 臨床医学：内科  >  小児科学一般
ISBN： 9784787825971
電子書籍版： 2023-10-20 （電子版）
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多くの遺伝性疾患のなかでも診断法・治療法がもっとも進歩したといわれるライソゾーム病について，早期診断と治療に必要なすべてを，第一線で活躍する専門家が最新情報にアップデート．近年新しい治療法が次々と見出されている酵素補充療法，薬理学的シャペロン療法，基質合成抑制療法などの成果を詳述．また，患者の成長や医療環境の変化に伴って直面する移行期医療，在宅医療の取り組みと今後の展望についても紹介．

目次

  • 第1章　総　　論
    　A　ライソゾーム病の基礎
    　　1 ライソゾーム病の歴史
    　　2 ライソゾームの機能と取り込み機序
    　　3 ライソゾームの生成と膜代謝
    　　4 ライソゾームの糖脂質代謝
    　　5 ライソゾームのムコ多糖代謝
    　　6 糖蛋白質の生合成とライソゾームにおける分解
    　　7 ライソゾーム膜蛋白と機能異常
    　　8 オートファジーとライソゾーム病
    　　9 ライソゾーム病における神経炎症
    　　10 iPS細胞を用いたライソゾーム病の病態・治療への研究
    　　11 ライソゾーム酵素の立体構造とライソゾーム病
    　　12 ライソゾーム病の中枢神経障害の機序と治療
    　　　　：BBB通過の機序と治療へのアプローチ
    　B　ライソゾーム病の臨床
    　　1 ライソゾーム病の遺伝
    　　2 ライソゾーム病の臨床
    　　3 ライソゾーム病の画像診断（X線，MR，CTほか）
    　　4 ライソゾーム病におけるQOLとADL
    　C　ライソゾーム病の診断
    　　1 形態学的診断法
    　　2 生化学的診断法（酵素診断，化学分析）
    　　3 分子遺伝学的診断法
    　D　ライソゾーム病の治療
    　　1 治療の概説
    　　2 対症療法（薬物，その他）
    　　3 リハビリテーション，気道確保法，栄養摂取法
    　　4 造血幹細胞移植（HSCT）
    　　5 酵素補充療法（ERT）
    　　6 基質合成抑制療法（SRT）
    　　7 薬理学的シャペロン療法（PCT）
    　　8 細胞治療・再生医療―現状を打破するために
    　　9 中枢神経障害の治療―神経症状を伴うライソゾーム病の治療
    　　10 遺伝子治療①―概論
    　　11 遺伝子治療②―AAV遺伝子治療
    　　12 遺伝子治療③―レンチウイルス遺伝子治療
    　E　ライソゾーム病のスクリーニング
    　　1 総論―先天代謝異常症のスクリーニングの現状
    　　2 ライソゾーム病の新生児スクリーニング
    　　3 ライソゾーム病のハイリスクスクリーニング
    　F　ライソゾーム病の遺伝カウンセリング
    　　1 ライソゾーム病の遺伝カウンセリング

    第2章　各　　論
    　A　脂質代謝異常症
    　　1 ゴーシェ病
    　　2 ファブリー病
    　　3 ニーマンピック病A，B型（酸性スフィンゴミエリナーゼ欠損症）
    　　4 セラミドーシス（ファーバー病）
    　　5 GM1ガングリオシドーシス，モルキオ症候群B型（β-ガラクトシドーシス）
    　　6 GM2ガングリオシドーシス
    　　7 異染性白質ジストロフィー（MLD）
    　　8 マルチプルスルファターゼ欠損症（MSD）
    　　9 クラッベ病
    　　10 サポシン欠損症
    　　11 ウォルマン病，コレステロールエステル蓄積症（CESD）
    　B　ムコ多糖症（MPS）
    　　1 ムコ多糖症（MPS）I型
    　　2 ムコ多糖症（MPS）II型
    　　3 ムコ多糖症（MPS）III型
    　　4 ムコ多糖症（MPS）IV型
    　　5 ムコ多糖症（MPS）VI型
    　　6 ムコ多糖症（MPS）VII型
    　C　糖蛋白代謝異常症
    　　1 フコシドーシス
    　　2 マンノシドーシス（α，β）
    　　3 アスパルチルグルコサミン尿症
    　　4 ガラクトシアリドーシス
    　　5 ムコリピドーシスII，III型
    　　6 シアリドーシス
    　　7 神崎病
    　D　ライソゾーム膜代謝異常症
    　　1 シスチノーシス
    　　2 遊離シアル酸蓄積症（サラ病）
    　　3 カテプシンK欠損症
    　　4 コバラミン代謝異常症F型（CblF）
    　　5 ダノン病
    　E　糖原病
    　　1 ポンペ病
    　F　コレステロールトランスポート代謝異常症
    　　1 ニーマンピック病C型（NPC）
    　G　神経セロイドリポフスチン症（NCL）
    　　1 神経セロイドリポフスチン症（NCL）
    　H　ライソゾーム病の医療
    　　1 移行期医療
    　　2 在宅治療可能となったライソゾーム病―在宅酵素補充療法の実際
    　I　ライソゾーム病の診断施設
    　　1 ライソゾーム病の診断施設
    　J　ライソゾーム病の特定疾患の申請方法
    　　1 ライソゾーム病の特定疾患の申請方法
    　K　ライソゾーム病の患者会
    　　1 ライソゾーム病の患者会

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第1章 総論

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第2章 各論

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