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<p>Rare diseases, defined in the European Union as conditions affecting fewer than five per 10,000 inhabitants, often manifest themselves in childhood, but are playing an increasingly important role in internal medicine due to the significantly improved long-term prognosis and a&#xa0;number of diseases that primarily occur in adulthood. Although noteworthy structures already exist nationally and internationally (networks, registers, databases, self-help groups), awareness of these diseases in daily routine and knowledge of the partly divergent care structures must be improved. There are no specific treatments for many of these diseases, but drugs are increasingly being developed—particularly in oncology—that are subject to special orphan drug status.</p>

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Seltene Erkrankungen – die Rolle der Inneren Medizin

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2025年4月24日

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  • Tilman Sauerbruch,
  • Stefan Aretz,
  • Helge Hebestreit,
  • Harald Kaemmerer,
  • Lutz Nährlich,
  • Britta Siegmund,
  • Georg Ertl

摘要

Rare diseases, defined in the European Union as conditions affecting fewer than five per 10,000 inhabitants, often manifest themselves in childhood, but are playing an increasingly important role in internal medicine due to the significantly improved long-term prognosis and a number of diseases that primarily occur in adulthood. Although noteworthy structures already exist nationally and internationally (networks, registers, databases, self-help groups), awareness of these diseases in daily routine and knowledge of the partly divergent care structures must be improved. There are no specific treatments for many of these diseases, but drugs are increasingly being developed—particularly in oncology—that are subject to special orphan drug status.