Shwachman-Diamond综合征(SDS)是一种少见的发生于婴幼儿的常染色体隐性遗传病。其主要特征表现为胰腺外分泌功能不全、身材矮小及骨髓功能失调。尽管中性粒细胞减少是SDS必要的诊断标准之一,与该病有关的血液学异常表现也曾陆续报导,如:贫血、胎儿血红蛋白(HbF)增高、血小板减少、周期性中性粒细胞减少、中性粒细胞趋化障碍、再生障碍性贫血以及向白血病发展的趋势。SDS的病理机制尚不清楚。截止1994 Shwachman-Diamond Syndrome (SDS) is a rare autosomal recessive disease that occurs in infants and young children. The main features of the performance of pancreatic exocrine insufficiency, short stature and bone marrow dysfunction. Although neutropenia is one of the diagnostic criteria for SDS, hematologic abnormalities associated with the disease have also been reported, such as anemia, increased fetal hemoglobin (HbF), thrombocytopenia, and periodic neutropenia , Neutrophilic chemotactic disorders, aplastic anemia and the development of leukemia. The pathological mechanism of SDS is not clear. Deadline 1994