de Alarcon P A, Graeve J A, Levine R F, McDonald T P, Beal D W
Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City 52242.
Am J Pediatr Hematol Oncol. 1991 Spring;13(1):77-83. doi: 10.1097/00043426-199121000-00017.
Thrombocytopenia and absent radii (TAR) syndrome is a congenital defect with osseous abnormalities and thrombocytopenia. It is inherited as an autosomal recessive trait, but the mechanism of thrombocytopenia in this disorder is not clear. We have had the opportunity to study the mechanism of thrombocytopenia in an infant with TAR syndrome. The infant had normal levels of thrombopoietin and megakaryocyte colony-stimulating activity in spite of marked thrombocytopenia. However, the megakaryocyte progenitor cells in the bone marrow produced abnormal colonies with increased numbers of megakaryocytes per colony and small megakaryocytes similar to the small megakaryocyte seen in vivo. These findings suggest that the TAR syndrome in this infant is due to a failure in the production of thrombopoietin or to an abnormal progenitor cell with a maturational defect.
血小板减少伴桡骨缺失（TAR）综合征是一种伴有骨骼异常和血小板减少的先天性缺陷。它作为常染色体隐性性状遗传，但这种疾病中血小板减少的机制尚不清楚。我们有机会研究一名患有TAR综合征婴儿的血小板减少机制。尽管该婴儿血小板显著减少，但其血小板生成素和巨核细胞集落刺激活性水平正常。然而，骨髓中的巨核细胞祖细胞产生了异常集落，每个集落中的巨核细胞数量增加，且有与体内所见小巨核细胞相似的小巨核细胞。这些发现表明，该婴儿的TAR综合征是由于血小板生成素产生失败或存在成熟缺陷的异常祖细胞所致。
