Clinical features, epidemiology, and treatment of Shwachman-Diamond syndrome: a systematic review

BMC Pediatr. 2023 Oct 6;23(1):503. doi: 10.1186/s12887-023-04324-3.


Background: Shwachman-Diamond syndrome (SDS) is an autosomal recessive disease which results in inherited bone marrow failure (IBMF) and is characterized by exocrine pancreatic dysfunction and diverse clinical phenotypes. In the present study, we reviewed the internationally published reports on SDS patients, in order to summarize the clinical features, epidemiology, and treatment of SDS.

Methods: We searched the WangFang and China National Knowledge Infrastructure databases with the keywords "Shwachman-Diamond syndrome," "SDS," "SBDS gene" and "inherited bone marrow failure" for relevant articles published from January 2002 to October 2022. In addition, studies published from January 2002 to October 2022 were searched from the Web of Science, PubMed, and MEDLINE databases, using "Shwachman-diamond syndrome" as the keyword. Finally, one child with SDS treated in Tongji Hospital was also included.

Results: The clinical features of 156 patients with SDS were summarized. The three major clinical features of SDS were found to be peripheral blood cytopenia (96.8%), exocrine pancreatic dysfunction (83.3%), and failure to thrive (83.3%). The detection rate of SDS mutations was 94.6% (125/132). Mutations in SBDS, DNAJC21, SRP54, ELF6, and ELF1 have been reported. The male-to-female ratio was approximately 1.3/1. The median age of onset was 0.16 years, but the diagnostic age lagged by a median age of 1.3 years.

Conclusions: Pancreatic exocrine insufficiency and growth failure were common initial symptoms. SDS onset occurred early in childhood, and individual differences were obvious. Comprehensive collection and analysis of case-related data can help clinicians understand the clinical characteristics of SDS, which may improve early diagnosis and promote effective clinical intervention.

Keywords: Bone marrow failure syndrome; Clinical feature; Exocrine pancreatic insufficiency; Failure to thrive; Shwachman-Diamond syndrome.

Publication types

  • Systematic Review
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Bone Marrow Diseases* / diagnosis
  • Bone Marrow Diseases* / epidemiology
  • Bone Marrow Diseases* / genetics
  • Exocrine Pancreatic Insufficiency* / diagnosis
  • Exocrine Pancreatic Insufficiency* / epidemiology
  • Exocrine Pancreatic Insufficiency* / therapy
  • Female
  • Humans
  • Infant
  • Male
  • Mutation
  • Phenotype
  • Shwachman-Diamond Syndrome
  • Signal Recognition Particle / genetics


  • Signal Recognition Particle
  • SRP54 protein, human