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Kongenitales Knochenmarkversagen

Congenital bone marrow failure

Zusammenfassung

Eine Reihe erblicher Erkrankungen wie die Fanconi-Anämie, die Dyskeratosis congenita, die Diamond-Blackfan-Anämie und das Shwachman-Diamond-Syndrom führen bereits im Kindesalter zum Knochenmarkversagen. Der vorliegende Beitrag fasst neue Entwicklungen der Pathogenese, klinischen Symptome, Diagnose und Therapie dieser Erkrankungen zusammen.

Abstract

Several genetic disorders, such as Fanconi anemia, dyskeratosis congenita, Diamond-Blackfan anemia and Shwachman-Diamond syndrome predispose to bone marrow failure that may present during infancy and childhood. This review summarizes new developments regarding pathogenesis, clinical presentation, natural history, diagnosis and therapy of children with these conditions.

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Einhaltung ethischer Richtlinien

Interessenkonflikt. C. Kratz und H. Hanenberg geben an, dass kein Interessenkonflikt besteht. Dieser Beitrag beinhaltet keine Studien an Menschen oder Tieren.

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Correspondence to C. Kratz.

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Kratz, C., Hanenberg, H. Kongenitales Knochenmarkversagen. Monatsschr Kinderheilkd 163, 47–51 (2015). https://doi.org/10.1007/s00112-014-3190-x

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  • DOI: https://doi.org/10.1007/s00112-014-3190-x

Schlüsselwörter

  • Zytopenie
  • Aplastische Anämie
  • Fanconi-Anämie
  • Dyskeratosis congenita
  • Diamond-Blackfan-Anämie

Keywords

  • Cytopenia
  • Aplastic anemia
  • Fanconi anemia
  • Dyskeratosis congenita
  • Diamond Blackfan anemia