Sheth N K, Prankerd T A
J Clin Pathol. 1968 Mar;21(2):154-6. doi: 10.1136/jcp.21.2.154.
A family with congenital thrombocytopenia is described through four generations where the mode of inheritance appears to be an autosomal dominant. Spontaneous bruising of varying severity, menorrhagia, and profuse bleeding at operation necessitating transfusion were predominant in the history. Platelet function tests were performed on the various patients. Platelet aggregation by adenosine diphosphate (ADP) was found to be defective, though liberation of platelet factor III and platelet thromboplastic function were found to be normal when corrected for deficient numbers.
本文描述了一个四代家族性先天性血小板减少症病例,其遗传方式似乎为常染色体显性遗传。病史中主要表现为不同程度的自发性瘀斑、月经过多以及手术时大量出血需输血。对不同患者进行了血小板功能测试。发现二磷酸腺苷(ADP)诱导的血小板聚集存在缺陷,不过校正血小板数量不足后,发现血小板因子III的释放及血小板凝血活酶功能正常。