title: [Two cases of Shwachman-Diamond syndrome with genetic confirmation and literature review].
abstract: OBJECTIVE
  To study clinical features and gene mutations in Shwachman-Diamond syndrome (SDS), a rare autosomal recessive disease, in children.
  
  
  METHODS
  Clinical manifestations, laboratory examinations, image studies, and genetic testing of two cases with SDS were presented, analyzed, and discussed; 311 SDS cases from the related literature since 2004 were reviewed.
  
  
  RESULTS
  (1) The two cases both presented with characteristic exocrine pancreatic insufficiency evidenced by abnormal pancreas on imaging and growth retardation, persistent or intermittent neutropenia (<1500×10(6)/L) and/or anemia, and skeletal abnormalities. Analysis of the SBDS gene revealed the same compound heterozygous genotype (c.183_184TA > CT, c.258+2T > C) for both subjects. This genotype is the result of the inheritance of abnormal alleles from both healthy parents. (2) Among 311 cases, 75 cases having complete clinical data were characterized by exocrine pancreatic dysfunction (61/75; 81.3%), hematologic abnormalities with single- or multi-lineage cytopenia (64/75; 85.3%), and bone abnormalities (47/75; 62.7%). c.183_184TA > CT, c.258+2T > C, and c. [ 183_184TA > CT; 258+2T > C] are the major types of SBDS gene mutation(85/138;61.6%).
  
  
  CONCLUSIONS
  SDS is characterized by exocrine pancreatic dysfunction with malabsorption, malnutrition, and growth failure; hematologic abnormalities with single- or multi-lineage cytopenia, and bone abnormalities. The diagnosis of SDS relies on a combination of clinical features and gene-based tests. The SDS patients need long term follow-up and management.
authors: Department of Infectious Diseases, Children's Hospital of Fudan University, Shanghai 201102, China.
authors: Jun
authors: J
authors: Shen
authors: Kai
authors: K
authors: Lin
authors: Yu
authors: Y
authors: An
authors: Yi-mi
authors: YM
authors: Wu
authors: Zhong-wei
authors: ZW
authors: Qiao
authors: Hui
authors: H
authors: Yu
authors: Qi-rong
authors: QR
authors: Zhu
authors: Email: tingz_shmu@163.com.
authors: Ting
authors: T
authors: Zhang
mesh_terms: D001855:Bone Marrow Diseases / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D004252:DNA Mutational Analysis; D010188:Exocrine Pancreatic Insufficiency / Q000175:diagnosis / Q000235:genetics*; D005091:Exons; D005808:Genes, Recessive; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008068:Lipomatosis / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D009154:Mutation; D009503:Neutropenia; D011506:Proteins / Q000235:genetics*; D000081003:Shwachman-Diamond Syndrome
chemical_list: D011506:Proteins; C470521:SBDS protein, human