Diagnosis and treatment of Shwachman-Diamond syndrome in Chinese children: An evidence-based study

• Published in: Zhonghua yi xue yi chuan xue za zhi Vol. 40; no. 8; p. 939
• Main Authors: Han, Xue, Shen, Tao, Gu, Changjuan, Qiao, Xiaohong, Xie, Xiaotian
• Format: Journal Article
• Language: Chinese
• Published: China 10.08.2023
• Subjects: Bone Marrow Diseases - diagnosis; Bone Marrow Diseases - genetics; Bone Marrow Diseases - therapy; China; East Asian People; Exocrine Pancreatic Insufficiency - diagnosis; Exocrine Pancreatic Insufficiency - genetics; Exocrine Pancreatic Insufficiency - therapy; Female; Humans; Male; Shwachman-Diamond Syndrome - diagnosis; Shwachman-Diamond Syndrome - genetics; Shwachman-Diamond Syndrome - therapy; China
• ISSN: 1003-9406
• DOI: 10.3760/cma.j.cn511374-20220907-00611

To explore the characteristics of Shwachman-Diamond syndrome (SDS) in Chinese children in order to provide a reference for early diagnosis. With Shwachman-Diamond syndrome, SDS, SBDS gene and inherited bone marrow failure as the keywords, the search period was set from January 2002 to October 2022. Relevant literature was retrieved from the Wanfang Database and China National Knowledge Infrastructure (CNKI) database. In addition, by using Shwachman-diamond syndrome as a keyword, the search period was also retrieved from the Web of Science, PubMed, and MEDLINE databases from January 2002 to October 2022. A child with SDS treated at the Tongji Hospital was also included. A total of 44 cases with complete clinical data were analyzed with reference to the International Standard for SDS Diagnosis. Chi-square test and t test were used for statistical analysis. Evidence-based research was carried out in the form of systematic review. The epidemiology, clinical characteristics and key points of early diagnosis of the