罕見病是一類慢性嚴重性疾病,半數罕見病患者在出生時或者兒童期即可發病,病情通常進展迅速,死亡率高。目前對罕見病認知嚴重不足,易誤診漏診,部分罕見病無葯可醫,給患者診治帶來巨大阻礙。
推進兒童罕見病診療研究的發展,是兒童健康事業發展的重要內容之一,對於保障和改善民生、提高全民健康素質、實現中華民族偉大復興的夢具有重要意義。為此,Science China Life Sciences(《科學:生命科學》英文版)特邀相關領域專家撰文,共同聚焦兒童罕見病,深入思考、探討兒童罕見病的發生髮展、診斷、治療等疑難問題,為攻破兒童罕見病進行有益的探索。文章集成「Frontiers in rare diseases」專刊(「兒童罕見病專刊」),於2017年7月正式出版。
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EDITORIALThe challenge and promise of rare disease diagnosis in China
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