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[遗传性血小板病性血小板减少症。2例显性遗传病例报告]

[Hereditary thrombocytopathic thrombocytopenia. Report of 2 cases transmitted with dominant character].

作者信息

Alvarez-Amaya C, Luis Márquez J, Antonio Narváez M, Gordon F, Rodríguez C, del Valle F, Alvarez Amador L

出版信息

Bol Med Hosp Infant Mex. 1975 Mar-Apr;32(2):191-210.

PMID:1169951
Abstract

Hereditary thrombocytopathic thrombocytopenia is reported in a family (mother and son) and is transmitted with dominant character of moderate to severe intensity (platelets fluctuated from less than 5,000 per mm-3 to 20,000 with sporadic higher rises), normal survivorhship, larger than normal diameter and abnormal platelet 3 factor. Comments are made on its resemblance to idiopathic thrombocytopenic purpura and stress is placed on the importance of its identification through the decision of splenectomy with negative results in these patients.

摘要

据报道,一个家族(母亲和儿子)患有遗传性血小板病性血小板减少症,呈中度至重度强度的显性遗传(血小板计数波动于每立方毫米少于5000至20000之间,偶有更高的升高),存活情况正常,血小板直径大于正常,血小板第三因子异常。文中对其与特发性血小板减少性紫癜的相似之处进行了评论,并强调了通过对这些患者进行脾切除术结果为阴性来鉴别该病的重要性。

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