遺伝性骨髄不全症診療ガイドライン　2023

出版社： 診断と治療社
著者：
発行日： 2023-06-01
分野： 臨床医学：内科  >  小児科学一般
ISBN： 9784787825599
電子書籍版： 2023-06-01 （電子版）
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商品紹介

『先天性骨髄不全症診療ガイドライン2017』の改訂版！　厚労省難治性疾患政策研究事業「遺伝性骨髄不全症候群研究班」の研究成果に加え，集積した最新の臨床的な知見等を加えた．なお，「先天性血小板減少症」は独立して研究が行われ，別のガイドラインに収載となったため，遺伝性骨髄不全症と鑑別がむずかしい「先天性溶血性貧血」を新たに加えた．専門の先生をはじめ，小児科や一般内科の先生方にもご活用いただける1冊．

目次

  • I　本ガイドラインについて
    　1．はじめに
    　2．本ガイドラインの基本的な考え方，記載方法
    　3．遺伝性造血不全症の診断，治療
    　4．利益相反
    　5．ガイドラインの検証と改訂

    II　Diamond-Blackfan貧血
    　診断のフローチャート
    　診断へのアプローチ
    　疫　学
    　病因・病態
    　臨床症状
    　治療法
    　フォローアップ，問題点・将来の展望
    　文　献

    III　Fanconi貧血
    　診断のフローチャート
    　診断へのアプローチ
    　疫　学
    　病因・病態
    　臨床症状
    　治療法・治療指針
    　フォローアップ
    　文　献

    IV　遺伝性鉄芽球性貧血
    　診断のフローチャート
    　診断へのアプローチ
    　疫　学
    　病因・病態
    　臨床症状・検査所見
    　治療法・治療指針
    　フォローアップ，問題点・将来の展望
    　文　献

    V　Congenital dyserythropoietic anemia（CDA）
    　診断のフローチャート
    　診断へのアプローチ
    　疫　学
    　病因・病態
    　臨床症状・検査所見
    　治療法・治療方針
    　フォローアップ，問題点・将来の展望
    　文　献

    VI　先天性角化不全症
    　診断のフローチャート
    　診断へのアプローチ
    　疫　学
    　病因・病態
    　臨床症状・検査所見
    　治療法・治療指針
    　フォローアップ，問題点・将来の展望
    　文　献

    VII　Shwachman-Diamond症候群
    　診断のフローチャート
    　診断へのアプローチ
    　疫　学
    　病因・病態
    　臨床症状
    　治療法・治療指針
    　フォローアップ
    　文　献

    VIII　先天性好中球減少症
    　診断のフローチャート
    　診断へのアプローチ
    　疫　学
    　病因・病態
    　臨床症状
    　治療法・治療指針
    　フォローアップ
    　文　献

    IX　先天性溶血性貧血
    　診断のフローチャート
    　診断へのアプローチ
    　疫　学
    　病因・病態
    　臨床症状・検査所見
    　治療法
    　フォローアップ，問題点・将来の展望
    　文　献

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。

II Diamond - Blackfan貧血

P.13 掲載の参考文献
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26) Utsugisawa T, Uchiyama T, Toki T, et al. : Erythrocyte glutathione is a novel biomarker of Diamond-Blackfan anemia. Blood Cells Mol Dis 59 : 31-36, 2016.
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32) Cmejla R, Cmejlova J, Handrkova H, et al. : Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia. Hum Mutat 28 : 1178-1182, 2007.
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33) Cmejla R, Cmejlova J, Handrkova H, et al. : Identification of mutations in the ribosomal protein L5 (RPL5) and ribosomal protein L11 (RPL11) genes in Czech patients with Diamond-Blackfan anemia. Hum Mutat 30 : 321-327, 2009.
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34) Konno Y, Toki T, Tandai S, et al. : Mutations in the ribosomal protein genes in Japanese patients with Diamond-Blackfan anemia. Haematologica 95 : 1293-1299, 2010.
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35) Leger-Silvestre I, Caffrey JM, Dawaliby R, et al. : Specific Role for Yeast Homologs of the Diamond Blackfan Anemia-associated Rps19 Protein in Ribosome Synthesis. J Biol Chem 280 : 38177-38185, 2005.
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36) Choesmel V, Bacqueville D, Rouquette J, et al. : Impaired ribosome biogenesis in Diamond-Blackfan anemia. Blood 109 : 1275-1283, 2007.
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37) Flygare J, Aspesi A, Bailey JC, et al. : Human RPS19, the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunits. Blood 109 : 980-986, 2007.
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38) Choesmel V, Fribourg S, Aguissa-Toure AH, et al. : Mutation of ribosomal protein RPS24 in Diamond-Blackfan anemia results in a ribosome biogenesis disorder. Hum Mol Genet 17 : 1253-1263, 2008.
 
39) Fumagalli S, Di Cara A, Neb-Gulati A, et al. : Absence of nucleolar disruption after impairment of 40S ribosome biogenesis reveals an rpL11-translation-dependent mechanism of p53 induction. Nat Cell Biol 11 : 501-508, 2009.
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40) Ludwig LS, Gazda HT, Eng JC, et al. : Altered translation of GATA1 in Diamond-Blackfan anemia. Nat Med 20 : 748-753, 2014.
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41) Khajuria RK, Munschauer M, Ulirsch JC, et al. : Ribosome Levels Selectively Regulate Translation and Lineage Commitment in Human Hematopoiesis. Cell 173 : 90-103.e19, 2018.
 
42) Ikeda F, Toki T, Kanezaki R, et al. : ALDH2 polymorphism in patients with DiamondBlackfan anemia in Japan. Int J Hematol 103 : 112-114, 2016.
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43) Nomura A, Ohga S, Asaka Y, et al. : Pneumocystis carinii pneumonia in Diamond-Blackfan anemia : the necessity of chemoprophylaxis for young infants. Int J Pediatr Hematol Oncol 7 : 7-11, 2000.
 
44) Yabe H, Inoue M, Koh K, et al. : Allogeneic stem cell transplantation for Diamond-Blackfan anemia in Japan ; A Report from the Inborn Errors Working Group of the Japan Society for Hematopoietic Cell Transplantation (JSHCT). Bone Marrow Transplant 48 (suppl) : s152, 2013.
 
45) Koyamaishi S, Kamio T, Kobayashi A, et al. : Reduced-intensity conditioning is effective for hematopoietic stem cell transplantation in young pediatric patients with Diamond-Blackfan anemia. Bone Marrow Transplant 56 : 1013-1020, 2021.
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46) Ebert BL, Pretz J, Bosco J, et al. : Identification of RPS14 as a 5q- syndrome gene by RNA interference screen. Nature 451 : 335-339, 2008.
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47) Jaako P, Debnath S, Olsson K, et al. : Dietary L-leucine improves the anemia in a mouse model for Diamond-Blackfan anemia. Blood 120 : 2225-2228, 2012.
 
48) Payne EM, Virgilio M, Narla A, et al. : L-Leucine improves the anemia and developmental defects associated with Diamond-Blackfan anemia and del (5q) MDS by activating the mTOR pathway. Blood 120 : 2214-2224, 2012.
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49) Vlachos A, Atsidaftos E, Lababidi ML, et al. : L-leucine improves anemia and growth in patients with transfusion-dependent Diamond-Blackfan anemia : Results from a multicenter pilot phase I/II study from the Diamond-Blackfan Anemia Registry. Pediatr Blood Cancer 67 : e28748, 2020.
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50) Ichimura T, Yoshida K, Okuno Y, et al. : Diagnostic challenge of Diamond-Blackfan anemia in mothers and children by whole-exome sequencing. Int J Hematol 105 : 515-520, 2017.
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III Fanconi貧血

P.27 掲載の参考文献
1) Fanconi G : Familiare infantile perniziosaartige Anamie (pernizioses Blutbild und Konstitution). Jahrb Kinderheilkd 117 : 257-280, 1927.
 
2) Fanconi G : Familial constitutional panmyelopathy, Fanconi's anemia (F.A.). Semin Hematol 4 : 233-240, 1967.
 
3) Schroeder TM, Anchutz F, Knopp A : Spontaneous chromosome aberrations in familial panmyelopathy. Humangenetik 1 : 194-196, 1964.
 
4) Sasaki MS, Tonomura A : A high susceptibility of Fanconi's anemia to chromosome breakage by DNA cross-lingking agents. Cancer Res 33 : 1829-1836, 1973.
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5) Bogliolo M, Surralles J : Fanconi anemia : a model disease for studies on human genetics and advanced therapeutics. Curr Opin Genet Deve 33 : 32-40, 2015.
 
6) Shimamura A, Montes de Oca R, Svenson JL, et al. : A novel diagnostic screen for defects in the Fanconi anemia pathway. Blood 100 : 4649-4654, 2002.
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7) 小原明 : 日本における小児特発性再生不良性貧血の現状-日本小児血液学会再生不良性貧血委員会疫学調査1988～2005年-. 日小血会誌 22 : 53-62, 2008.
 
8) Mori M, Hira A, Yoshida K, et al. : Pathogenic mutations identified by a multimodality approach in 117 Japanese Fanconi anemia patients. Haematologica 104 : 1962-1973, 2019
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13) Hira A, Yabe H, Yoshida K, et al. : Variant ALDH2 is associated with accelerated progression of bone marrow failure in Japanese Fanconi anemia patients. Blood 122 : 3206-3209, 2013.
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IV 遺伝性鉄芽球性貧血

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V Congenital dyserythropoietic anemia ( CDA )

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VI 先天性角化不全症

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35) 山口博樹, 檀和夫 : テロメア関連遺伝子異常による骨髄不全症. 臨床血液 51 : 646-653, 2010.
 
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VII Shwachman - Diamond症候群

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23) 奥野友介 : 先天性造血不全症. 臨床血液 57 : 98-103, 2016.
 
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VIII 先天性好中球減少症

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IX 先天性溶血性貧血

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