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A case of Shwachman-Diamond syndrome distinguished from celiac disease

机译:一例与腹腔疾病区分开的Shwachman-Diamond综合征

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Shwachman-Diamond syndrome (SDS) is a rare, inherited, autosomal recessive disease characterized by exocrine pancreatic dysfunction, skeletal problems and varying degrees of cytopenias resulting in bone marrow dysfunction. We report the first case of SDS that was difficult to distinguish from celiac disease because this is a valuable example of the variety in SDS presentation.
机译:Shwachman-Diamond综合征(SDS)是一种罕见的遗传性常染色体隐性疾病,其特征是外分泌胰腺功能障碍,骨骼问题和不同程度的血细胞减少,导致骨髓功能障碍。我们报告了第一例难以与乳糜泻区别开来的SDS病例,因为这是SDS表现形式中一个有价值的例子。

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