Clinical features of Shwachman-Diamond syndrome: A systematic review

Abstract Introduction Shwachman-Diamond syndrome (SDS) is an autosomal recessive inherited bone marrow failure (IBMF) with exocrine pancreatic dysfunction and diverse clinical phenotype. To summarize the clinical features, epidemiology and treatment of SDS, we reviewed internationally published reports of patients with SDS. Materials and methods With "Shwachman-Diamond syndrome", "SDS", "SBDS gene" and "inherited bone marrow failure" as keywords, the search period was setted from January 2002 to October 2022, and the relevant literatures of WangFang Database and China national knowledge infrastructure database was collected. In addition, using "Shwachman-diamond syndrome" as the keyword, literature reports from Web of Science, PubMed, and MEDLINE databases from January 2002 to October 2022 were retrieved, and a child with SDS treated in Tongji Hospital was also included. Results The clinical features of 156 SDS patients were summarized. Three major SDS clinical features were cytopenia (94%), exocrine pancreatic dysfunction (83%), and failure to thrive (83%). The detection rate of SDS gene mutation was 94.6% (125/132). Mutations in SBDS, DNAJC21, SRP54, ELF6 and ELF1 genes have been reported. The male to female ratio is about 1.3/1. The median age at onset was 1.9 months, but the median age at diagnosis was 15.6 months. Conclusion Common initial symptoms were pancreatic exocrine insufficiency and growth failure. The onset age of SDS in children is early and the individual difference is obvious. Comprehensively collecting and analyzing case related data can help clinicians understand the clinical characteristics of SDS, which may improve early diagnosis and effective clinical intervention of SDS.