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Abstract：
Shwachman-Diamond syndrome (SDS) is an autosomal recessive disorder characterized by pancreatic exocrine insufficiency and bone marrow failure, often associated with neurodevelopmental and skeletal abnormalities. Mutations in the SBDS gene have been shown to cause SDS. The purpose of this document is to provide draft guidelines for diagnosis, evaluation of organ and system abnormalities, and treatment of hematologic, pancreatic, dietary, dental, skeletal, and neurodevelopmental complications. New recommendations regarding diagnosis and management are presented, reflecting advances in understanding the genetic basis and clinical manifestations of the disease based on the consensus of experienced clinicians from Canada, Europe, and the United States. Whenever possible, evidence-based conclusions are made, but as with other rare diseases, the data on SDS are often anecdotal. The authors welcome comments from readers.
摘要：
Shwachman-Diamond综合征（SDS）是一种常染色体隐性遗传疾病，其特征是胰腺外分泌功能不全和骨髓衰竭，常伴有神经发育和骨骼异常。已显示SBDS基因中的突变引起SDS。本文件的目的是提供诊断指南草案，器官和系统异常的评估，和血液学治疗，胰腺,饮食，牙科,骨骼，和神经发育并发症。提出了有关诊断和管理的新建议，反映了基于加拿大经验丰富的临床医生的共识，在理解疾病的遗传基础和临床表现方面取得的进展，欧洲,和美国。只要有可能,做出了基于证据的结论，但是和其他罕见疾病一样，SDS上的数据通常是轶事。作者欢迎读者的评论。
