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ISSN 1001-5256 (Print)
ISSN 2097-3497 (Online)
CN 22-1108/R
Volume 38 Issue 7
Jul.  2022
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Article Navigation >  Journal of Clinical Hepatology  > 2022  >  38(7): 1691-1693

Clinical features and management of Shwachman-Diamond syndrome

DOI: 10.3969/j.issn.1001-5256.2022.07.045

  • 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)
  • Received Date: 2021-11-23
  • Accepted Date: 2022-01-13
  • Published Date: 2022-07-20
    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.

     

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