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Shwachman-Diamond综合征临床特征与管理

李梦萍 王建设 谢新宝

引用本文:
Citation:

Shwachman-Diamond综合征临床特征与管理

DOI: 10.3969/j.issn.1001-5256.2022.07.045
基金项目: 

国家重点研发计划 (2021YFC2700800)

利益冲突声明:所有作者均声明不存在利益冲突
作者贡献声明:李梦萍负责文章起草及修改;谢新宝负责对文章的知识性内容作批评性审阅、指导和修改;王建设负责拟定写作思路。
详细信息
    通信作者:

    谢新宝,xxb116@163.com

Clinical features and management of Shwachman-Diamond syndrome

Research funding: 

National Key Research and Development Program of China (2021YFC2700800)

More Information
    Corresponding author: XIE Xinbao, xxb116@163.com(ORCID: 0000-0002-3692-7356)
  • 摘要: Shwachman-Diamond综合征是一种可累及全身多脏器的常染色体隐性遗传病,主要表现为胰腺外分泌功能不全、骨髓衰竭和骨骼发育异常,常有肝脏累及。为提高临床医生对该病的认识,本文总结了Shwachman-Diamond综合征的发病机制、临床特征、诊断及长期管理要点。Shwachman-Diamond综合征患儿早期诊断、早期治疗和规律随访是改善预后的关键。

     

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出版历程
  • 收稿日期:  2021-11-23
  • 录用日期:  2022-01-13
  • 出版日期:  2022-07-20
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