Clopidogrel is used as a frontline antiplatelet drug in patients with coronary artery disease, peripheral vascular disease and cerebrovascular disease. Though it is frequently reported that clopidogrel is associated w...Clopidogrel is used as a frontline antiplatelet drug in patients with coronary artery disease, peripheral vascular disease and cerebrovascular disease. Though it is frequently reported that clopidogrel is associated with thrombotic thrombocytopenic purpura (TTP), severe isolated thrombocytopenia induced by this drug is rare. Here we report a case with isolated thrombocytopenia due to clopidogrel therapy. As this agent is widely used in clinical practice, the occurrence of this rare but dangerous adverse effect should be considered.展开更多
目的:提高对非肌性肌球蛋白重链9基因(myosin heavy chain 9,nonmuscle,MYH9)突变相关疾病的认识。方法:报告一个MYH9相关疾病家系的临床及实验室检查资料,包括外周血和骨髓涂片的细胞形态学检查(瑞姬染色),外周血超微结构检查,流式细...目的:提高对非肌性肌球蛋白重链9基因(myosin heavy chain 9,nonmuscle,MYH9)突变相关疾病的认识。方法:报告一个MYH9相关疾病家系的临床及实验室检查资料,包括外周血和骨髓涂片的细胞形态学检查(瑞姬染色),外周血超微结构检查,流式细胞术分析血小板膜糖蛋白,应用逆转录-聚合酶链反应和直接测序的方法分析MYH9 mRNA,应用聚合酶链反应和直接测序方法分析MYH9基因。结果:患儿及其父亲均有巨大血小板、血小板减少和粒细胞内包涵体(Dhle样小体)。患儿及其父亲血小板膜糖蛋白GPIb均轻度降低。mRNA和基因组DNA分析均证实,患儿存在杂合的碱基替代突变(5797C>T),使第1933位密码子CGA转为终止密码子TGA。基因组DNA分析显示,其父亲携带有与患儿相同的突变。结论:本例患儿及其父亲具有巨大血小板、血小板减少、粒细胞内包涵体和MYH9基因点突变,MYH9相关疾病的诊断成立。展开更多
文摘Clopidogrel is used as a frontline antiplatelet drug in patients with coronary artery disease, peripheral vascular disease and cerebrovascular disease. Though it is frequently reported that clopidogrel is associated with thrombotic thrombocytopenic purpura (TTP), severe isolated thrombocytopenia induced by this drug is rare. Here we report a case with isolated thrombocytopenia due to clopidogrel therapy. As this agent is widely used in clinical practice, the occurrence of this rare but dangerous adverse effect should be considered.
文摘目的:提高对非肌性肌球蛋白重链9基因(myosin heavy chain 9,nonmuscle,MYH9)突变相关疾病的认识。方法:报告一个MYH9相关疾病家系的临床及实验室检查资料,包括外周血和骨髓涂片的细胞形态学检查(瑞姬染色),外周血超微结构检查,流式细胞术分析血小板膜糖蛋白,应用逆转录-聚合酶链反应和直接测序的方法分析MYH9 mRNA,应用聚合酶链反应和直接测序方法分析MYH9基因。结果:患儿及其父亲均有巨大血小板、血小板减少和粒细胞内包涵体(Dhle样小体)。患儿及其父亲血小板膜糖蛋白GPIb均轻度降低。mRNA和基因组DNA分析均证实,患儿存在杂合的碱基替代突变(5797C>T),使第1933位密码子CGA转为终止密码子TGA。基因组DNA分析显示,其父亲携带有与患儿相同的突变。结论:本例患儿及其父亲具有巨大血小板、血小板减少、粒细胞内包涵体和MYH9基因点突变,MYH9相关疾病的诊断成立。
