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血小板减少-挠骨缺失(TAR)综合征是一种相对较为常见的先天性异常综合征,特征为巨核细胞减少引起的血小板减少[低于100×10~9/L(100000/mm~3)]和双侧挠骨缺失。本病为常染色体隐性遗传。最初本病被认为是Fanconi贫血的一种形式,但目前认为是不同于Fanconi贫血的一种独立疾病,产生该综合征的发病机理目前还不清楚。TAR的临床特征包括血液学异常、骨酪异常、心脏异常以及牛奶过敏或不耐受(出生后几年内表现为胃肠道功能紊乱),另外还有其它一些少见表现。
Thrombocytopenia - Radiographic Deflection (TAR) syndrome is a relatively common congenital anomaly syndrome characterized by thrombocytopenia caused by megakaryocytopenia [less than 100 × 10 9 / L (100,000 / mm 3) ] And bilateral radius loss. The disease is autosomal recessive. Initially the disease is considered a form of Fanconi anemia, but is now considered an independent disease different from Fanconi anemia, the pathogenesis of the syndrome is not yet clear. The clinical features of TAR include hematologic abnormalities, abnormalities in the skeleton, cardiac abnormalities, and milk allergy or intolerance (manifestations of gastrointestinal disorders within a few years after birth), as well as other rare manifestations.