ニーマンピック病C型（NPC）診療ガイドライン2023

出版社： 診断と治療社
著者：
発行日： 2023-01-31
分野： 臨床医学：内科  >  小児科学一般
ISBN： 9784787825940
電子書籍版： 2023-01-31 （電子版）
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厚労省研究班と日本先天代謝異常学会の協働によるエビデンスに基づくガイドライン．NPCの治療が可能となった今日において，症状から本症を疑い，病状が進行する前に診断し，早期に治療を開始することが課題となっている．本ガイドラインは先天代謝異常症を専門としていない医師を読者対象とし，全国にいるNPC患者さんが標準的な治療を受けられるよう企画された．

目次

  • 第1章 ニーマンピック病C型（NPC）診療ガイドライン2023
    I NPCの概要
    疾患概要
    病態
    臨床症状および臨床病型
    臨床検査および診断
    治療
    フォローアップ

    II NPCの診断と臨床検査
    CQ 1 NPCは発症年齢によって臨床症状が異なるか？
    CQ 2 NPCでは肝脾腫を必ず認めるか？
    CQ 3 NPCに特徴的な神経症状はあるか？
    CQ 4 NPCの診断において中枢神経画像検査は有用か？
    CQ 5 NPCの診断においてフィリピン染色は有用か？
    CQ 6 NPCの診断において遺伝子検査は必須か？
    CQ 7 NPCの診断においてバイオマーカーは有用か？
    CQ 8 NPCの診断はどのような流れで行うか？

    III NPCの治療
    CQ 9 カタプレキシーに対して有効な治療はあるか？
    CQ 10 ミグルスタットは周産期型や乳幼児早期型の胆汁鬱滞や肺障害を改善するか？
    CQ 11 ミグルスタットは生命予後，QOLを改善するか？
    CQ 12 ミグルスタットは神経症状を改善するか？
    CQ 13 ミグルスタットは精神症状を改善するか？

    IV NPCの新しい治療
    CQ 14 NPCにおけるシクロデキストリン治療とは？
    CQ 15 NPCにおける肝移植，造血幹細胞移植とは？
    CQ 16 NPCにおける遺伝子治療とは？

    第2章 システマティックレビュー（SR）ダイジェスト
    資料CQ 11-01 文献検索式
    資料CQ 11-02 定性的SRとSRレポート
    資料CQ 12-01 文献検索式
    資料CQ 12-02 定性的SRとSRレポート
    資料CQ 13-01 文献検索式
    資料CQ 13-02 定性的SRとSRレポート

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第1章 ニーマンピック病C型 ( NPC ) 診療ガイドライン2023

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P.35 掲載の参考文献
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PubMed
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5) Patterson MC, et al : Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C : an observational cohort study. Orphanet J Rare Dis 2015 ; 10 : 65.
 
6) Fecarotta S, et al : Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C. Orphanet J Rare Dis 2015 ; 10 : 22.
PubMed
7) Ginocchio VM, et al : Efficacy of miglustat in Niemann-Pick C disease : a single centre experience. Mol Genet Metab 2013 ; 110 : 329-335.
 
8) Karimzadeh P, et al : Effects of miglustat on stabilization of neurological disorder in niemann-pick disease type C : Iranian pediatric case series. J Child Neurol 2013 ; 28 : 1599-1606.
 
9) Heron B, et al : Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C. Orphanet J Rare Dis 2012 ; 7 : 36.
PubMed
10) Wraith JE, et al : Miglustat in adult and juvenile patients with Niemann-Pick disease type C : long-term data from a clinical trial. Mol Genet Metab 2010 ; 99 : 351-357.
PubMed
11) Patterson MC, et al : Long-term miglustat therapy in children with Niemann-Pick disease type C. J Child Neurol 2010 ; 25 : 300-305.
PubMed
12) Pineda M, et al : Miglustat in patients with Niemann-Pick disease Type C (NP-C) : a multicenter observational retrospective cohort study. Mol Genet Metab 2009 ; 98 : 243-249.
 
13) Santos ML, et al : Treatment of a child diagnosed with Niemann-Pick disease type C with miglustat : a case report in Brazil. J Inherit Metab Dis 2008 ; 31 (suppl 2) : 357-361.
 
14) Patterson MC, et al : Miglustat for treatment of Niemann-Pick C disease : a randomised controlled study. Lancet Neurol 2007 ; 6 : 765-772.
 
15) Geberhiwot T, et al : Consensus clinical management guidelines for Niemann-Pick disease type C. Orphanet J Rare Dis 2018 ; 13 : 50.
PubMed
16) Pineda M, et al : Clinical experience with miglustat therapy in pediatric patients with Niemann-Pick disease type C : a case series. Mol Genet Metab 2010 ; 99 : 358-366.
PubMed
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2) Patterson MC, et al : Miglustat for the treatment of therapy Niemann-Pick C disease : a randomized controlled study. Lancet Neurol 2007 ; 6 : 765-772.
 
3) Wraith JE, et al : Miglustat in adult and juvenile patients with Niemann-Pick disease type C : long-term data from a clinical trial. Mol Genet Metab 2010 ; 99 : 351-357.
PubMed
4) Patterson MC, et al : Treatment outcomes following continuous miglustat therapy in patients with Niemann-Pick disease Type C : a final report of the NPC Registry. Orphanet J Rare Dis 2020 ; 15 : 104.
 
5) Patterson MC, et al : NPC Registry investigators. Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C : an observational cohort study. Orphanet J Rare Dis 2015 ; 10 : 65.
PubMed
6) Ginocchio VM, et al : Efficacy of miglustat in Niemann-Pick C disease : a single centre experience. Mol Genet Metab 2013 ; 110 : 329-335.
 
7) Patterson MC, et al : Long-term miglustat therapy in children with Niemann-Pick disease type C. J Child Neurol 2010 ; 25 : 300-305.
PubMed
8) Bowman EA, et al : Longitudinal changes in cerebellar and subcortical volumes in adult-onset Niemann-Pick disease type C patients treated with miglustat. J Neurol 2015 ; 262 : 2106-2114.
PubMed
9) Pineda M, et al : Disease characteristics, prognosis and miglustat treatment effects on disease progression in patients with Niemann-Pick disease Type C : an international, multicenter, retrospective chart review. Orphanet J Rare Dis 2019 ; 14 : 32.
 
10) Nadjar Y, et al : Adult Niemann-Pick disease type C in France : clinical phenotypes and long-term miglustat treatment effect. Orphanet J Rare Dis 2018 ; 13 : 175.
PubMed
11) Geberhiwot T, et al : Consensus clinical management guidelines for Niemann-Pick disease type C. Orphanet J Rare Dis 2018 ; 13 : 50.
PubMed
P.43 掲載の参考文献
1) Usui M, et al : Miglustat therapy in a case of early-infantile Niemann-Pick type C. Brain Dev 2017 ; 39 : 886-890.
 
2) Zarowski M, et al : Treatment of cataplexy in Niemann-Pick disease type C with the use of miglustat. Eur J Paediatr Neurol 2011 ; 15 : 84-87.
PubMed
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PubMed
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