遗传性血栓性血小板减少性紫癜5例临床分析  

Clinical diagnosis and treatment of hereditary thrombocytopenia and purpura:a report of five cases and literature review

作　　者：吕昕波 殷杰[1] 孔丹青 田竑[1] 李云 曲琦 苏健[1] 曹丽娟[1] 白霞[1] 余自强[1] 王兆钺[1] 吴德沛[1] 阮长耿[1] Lyu Xinbo;Yin Jie;Kong Danqing;Tian Hong;Li Yun;Qyu Qi;Su Jian;Cao Lijuan;Bai Xia;Yu Ziqiang;Wang Zhaoyue;Wu Depei;Ruan Changgeng(Jiangsu Institute of Hematology,National Clinical Research Center for Hematologic Disease,NHC Key Laboratory of Thrombosis and Hemostasis,The First Affiliated Hospital of Soochow University,Collaborative Innovation Center of Hematology,State Key Laboratory of Radiation Medicine and Protection,Soochow University,Suzhou 215006,China)

机构地区：[1]苏州大学附属第一医院血液科,江苏省血液研究所,国家血液系统疾病临床医学研究中心,国家卫生健康委员会血栓与止血重点实验室,血液学协同创新中心,苏州大学省部共建放射医学与辐射防护国家重点实验室,苏州215006

出　　处：《中华血液学杂志》2023年第1期43-47,共5页Chinese Journal of Hematology

基　　金：江苏省科教强卫工程-临床医学中心项目(YXZXA2016002)。

摘　　要：目的报道5例遗传性血栓性血小板减少性紫癜(cTTP)患者的临床表现及实验室检查特点,结合文献资料探讨cTTP的临床诊治方法。方法分析患者发病年龄、疾病表现、个人史、家族史、误诊情况等临床资料,观察血浆输注疗效和器官功能评估等治疗结局;结合血浆ADAMTS13活性测定及ADAMTS13基因突变分析,探讨cTTP临床表现、治疗结局与ADAMTS13基因突变间的相互内在联系。结果5例CTTP患者中男1例,女4例,发病年龄分别为1、9、12、19、31岁,主要临床表现为血小板明显减少、贫血及神经系统受累表现;既往多被疑诊为免疫性血小板减少症;2例女性患者因妊娠诱发,其他病例存在感染诱因。所有病例均检出ADAMTS13基因突变,基因突变区域与患者临床表现及器官损伤程度之间存在内在联系。治疗性和预防性血浆输注是有效的治疗方法。结论cTTP临床表现具有明显异质性,易被误诊而延误治疗。ADAMTS13活性检测和基因突变分析是重要诊断依据,预防性血浆输注可有效控制疾病发作。Objective To report the clinical manifestations and laboratory features of five patients with congenital thrombotic thrombocytopenic purpura(cTTP)and explore its standardized clinical diagnosis and treatment along with a review of literature.Methods Clinical data of patients,such as age of onset,disease manifestation,personal history,family history,and misdiagnosed disease,were collected.Treatment outcomes,therapeutic effects of plasma infusion,and organ function evaluation were observed.The relationship among the clinical manifestations,treatment outcomes,and ADAMTS13 gene mutation of patients with cTTP was analyzed.Additionally,detection of ADAMTS13 activity and analysis of ADAMTS13 gene mutation were explored.Results The age of onset of cTTP was either in childhood or adulthood except in one case,which was at the age of 1.The primary manifestations were obvious thrombocytopenia,anemia,and different degrees of nervous system involvement.Most of the patients were initially suspected of having immune thrombocytopenia.Acute cTTP was induced by pregnancy and infection in two and one case,respectively.ADAMTS13 gene mutation was detected in all cases,and there was an inherent relationship between the mutation site,clinical manifestations,and degree of organ injury.Therapeutic or prophylactic plasma transfusion was effective for treating cTTP.Conclusions The clinical manifestations of cTTP vary among individuals,resulting in frequent misdiagnosis that delays treatment.ADAMTS13 activity detection in plasma and ADAMTS13 gene mutation analysis are important bases to diagnose cTTP.Prophylactic plasma transfusion is vital to prevent the onset of the disease.

关 键 词：紫癜 血栓性血小板减少性 ADAMTS13蛋白质 诊断 鉴别 

分 类 号：R554.6[医药卫生—血液循环系统疾病]