McDonald Vickie, Liesner Ri, Grainger John, Gattens Michael, Machin Samuel J, Scully Marie
Haemostasis Research Unit, Department of Haematology, University College London, UK.
Blood Coagul Fibrinolysis. 2010 Apr;21(3):245-50. doi: 10.1097/MBC.0b013e32833679cb.
Thrombotic thrombocytopenic purpura (TTP) in children is rare and is often thought to be due to congenital ADAMTS13 deficiency. We report seven new cases of noncongenital TTP in children and adolescents and perform a review of the literature where ADAMTS13 assays have been performed in paediatric acquired TTP. All new cases were female and the median age was 13 years. Presenting clinical features included bruising/petechiae or bleeding, fever, neurological, and renal impairment. Median Hb and platelet counts on admission were 66 g/l and 10 x 10(9)/l respectively. Two cases had raised Troponin T levels and one had an abnormal ECG. All cases had ADAMTS13 activity less than 5% and an inhibitor to ADAMTS13. The median number of plasma exchange to remission was 22.5. Six cases received rituximab. Three achieved normal ADAMTS13 activity and remain in remission. Two had persistently low ADAMTS13 activity with high anti-ADAMTS13 IgG levels and one of these relapsed. One had moderately reduced levels of ADAMTS13 in remission with no inhibitor, however, a fall in ADAMTS13 activity and increase in anti-ADAMTS13 IgG heralded clinical relapse. The literature review identified 12 acquired cases showing low ADAMTS13 activity and inhibition of ADAMTS13 (in 95%). In children and adolescents TTP may be due to acquired deficiency of ADAMTS13, associated with an inhibitor/Anti-ADAMTS13 IgG antibodies. Treatment of acquired disease requires PEX and usually immunosuppressive treatment. Rituximab appears to be an effective adjunctive treatment modality.
儿童血栓性血小板减少性紫癜（TTP）较为罕见，通常被认为是由于先天性ADAMTS13缺乏所致。我们报告了7例儿童和青少年非先天性TTP新病例，并对已在儿科获得性TTP中进行ADAMTS13检测的文献进行了综述。所有新病例均为女性，中位年龄为13岁。呈现的临床特征包括瘀伤/瘀点或出血、发热、神经和肾功能损害。入院时Hb和血小板计数中位数分别为66 g/l和10×10⁹/l。2例肌钙蛋白T水平升高，1例心电图异常。所有病例的ADAMTS13活性均低于5%，且存在ADAMTS13抑制剂。达到缓解的血浆置换中位数次数为22.5次。6例接受了利妥昔单抗治疗。3例ADAMTS13活性恢复正常并持续缓解。2例ADAMTS13活性持续较低，抗ADAMTS13 IgG水平较高，其中1例复发。1例缓解期ADAMTS13水平中度降低，无抑制剂，但ADAMTS13活性下降和抗ADAMTS13 IgG增加预示着临床复发。文献综述确定了12例获得性病例，显示ADAMTS13活性低且ADAMTS13受到抑制（95%）。在儿童和青少年中，TTP可能是由于ADAMTS13获得性缺乏，与抑制剂/抗ADAMTS13 IgG抗体有关。获得性疾病的治疗需要血浆置换，通常还需要免疫抑制治疗。利妥昔单抗似乎是一种有效的辅助治疗方式。
