Thrombocytopenia with absent radii. A review of 100 cases.
Thrombocytopenia with absent radii. A review of 100 cases.
复制标题
血小板减少伴半径缺失。
DOI：
10.1097/00043426-198821000-00010
复制
发表时间：
1988
期刊：
影响因子：
--
通讯作者：
Lipton,JM
中科院分区：
文献类型：
--
作者：
Hedberg,VA;Lipton,JM
血小板减少伴桡骨缺如综合征（TAR）是一种罕见的先天性综合征，其特征性血液学表现为低巨核细胞性血小板减少、周期性类白血病反应和嗜酸性粒细胞增多。血小板减少症通常出现在出生时或新生儿期，可能是严重的，占显着的发病率。然而，血小板减少症的解决通常发生在第一年之后。在这篇100例病例的回顾中，详细讨论了其临床表现、病理生理学、遗传学和治疗。随着对TAR综合征中低巨核细胞性血小板减少症的自然史和病理生理学的了解的增加，以及所讨论的支持性治疗的进展，这种综合征患者的前景变得相当好。
The syndrome of thrombocytopenia with absent radii (TAR) is a rare congenital syndrome in which the characteristic hematological findings are hypomegakaryocytic thrombocytopenia, periodic leukemoid reactions, and eosinophilia. The thrombocytopenia usually presents at birth or during the neonatal period and may be profound, accounting for significant morbidity. However, resolution of the thrombocytopenia usually occurs after the first year. In this review of 100 cases, the clinical manifestations, pathophysiology, genetics, and treatment are discussed in detail. With the increased understanding of the natural history and pathophysiology of the hypomegakaryocytic thrombocytopenia in the TAR syndrome, in conjunction with the advances in supportive therapy discussed, the outlook for patients with this syndrome has become quite good.