Shwachman-Diamond Syndrome presenting in a premature infant as pancytopenia
Shwachman-Diamond Syndrome presenting in a premature infant as pancytopenia
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DOI：
10.1002/pbc.21550
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发表时间：
2008-07-01
影响因子：
3.2
通讯作者：
Berkow, Roger L.
中科院分区：
文献类型：
--
作者：
Black, L. Vandy;Soltau, Thomas;Berkow, Roger L.
Shwachman-Diamond综合征是一种罕见的常染色体隐性遗传病，其特征为骨髓功能障碍、外分泌胰腺功能不全、发育不良和骨骼异常。它最常见于儿童早期血液异常发展后的诊断。我们报告一个早产婴儿出生在33周妊娠谁是小胎龄和表现出持续的血细胞减少需要输血。基因检测确诊为Shwachman-Diamond综合征（SDS）。
Shwachman-Diamond syndrome is a rare autosomal recessive disorder characterized by bone marrow dysfunction, exocrine pancreatic insufficiency, failure to thrive, and skeletal abnormalities. It is most commonly diagnosed in early childhood after the development of hematologic abnormalities. We report a premature infant born at 33 weeks gestation who was small for gestational age and displayed persistent cytopenias requiring transfusion. Genetic testing confirmed a diagnosis of Shwachman-Diamond syndrome (SDS).