Shwachman-Diamond综合征临床特征与管理

李梦萍; 王建设; 谢新宝

doi:10.3969/j.issn.1001-5256.2022.07.045

Shwachman-Diamond综合征临床特征与管理

DOI: 10.3969/j.issn.1001-5256.2022.07.045

复旦大学附属儿科医院肝病中心，上海 201102

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

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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

Clinical features and management of Shwachman-Diamond syndrome

Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, Shanghai 201102, China

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

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。
- Shwachman-Diamond综合征 /
- 诊断 /
- 临床管理
Abstract: Shwachman-Diamond syndrome is an autosomal recessive disorder that may involve multiple visceral organs of the body, with the main manifestations of exocrine pancreatic insufficiency, bone marrow failure, and skeletal abnormalities with frequent liver involvement. In order to improve the awareness of this disease among clinicians, this article summarizes the pathogenesis, clinical features, diagnosis, and long-term management of Shwachman-Diamond syndrome. Early diagnosis, early treatment, and regular follow-up are the key to improving the prognosis of children with Shwachman-Diamond syndrome.
- Shwachman-Diamond Syndrome /
- Diagnosis /
- Clinical Governance

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参考文献(30)

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