Aranda E, Dorantes S
Scand J Haematol. 1977 Jan;18(1):39-46.
After a critical study, a splenectomy was performed in a 6-year-old boy with chronic thrombocytopenic purpura. Failure of surgery and immunosuppressive therapy prompted new investigations which led to the discovery of a cyclic thrombocytopenic purpura related to a periodic variation in maturity of megakaryocytes. The patient's platelets were morphologically and functionally normal and it was not possible to demonstrate neither immunological mechanism, nutritional deficiency, influence of the environment nor consumption or excessive destruction of platelets. Cyclic thrombocytopenia was detected in the father and also cyclic variations in platelet counts from normal values to over 1,000 x 10(9)/1 in 4 of 9 siblings. In view of these findings. The abnormal condition in this family was named Garcia's disease.
经过严格研究,对一名患有慢性血小板减少性紫癜的6岁男孩实施了脾切除术。手术和免疫抑制治疗失败促使进行新的调查,结果发现了一种与巨核细胞成熟周期性变化相关的周期性血小板减少性紫癜。患者的血小板在形态和功能上均正常,且无法证明存在免疫机制、营养缺乏、环境影响或血小板消耗或过度破坏的情况。在父亲身上检测到了周期性血小板减少症,9名兄弟姐妹中有4名的血小板计数也出现了从正常值到超过1000×10⁹/L的周期性变化。鉴于这些发现,这个家族中的异常情况被命名为加西亚病。