Department of Pediatrics, College of Medicine, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA.
Department of Medicine, College of Medicine, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA.
Pediatr Blood Cancer. 2021 May;68(5):e28949. doi: 10.1002/pbc.28949. Epub 2021 Mar 4.
We describe how infants and children with hereditary and acquired autoimmune thrombotic thrombocytopenic purpura (TTP) initially present and how they can be promptly diagnosed and effectively managed. These are uncommon disorders that are commonly misdiagnosed and can be rapidly fatal. TTP is caused by a severe deficiency of the plasma protease, A disintegrin and Metalloprotease with a ThromboSpondin type 1 motif, member 13 (ADAMTS13). Measurement of ADAMTS13 activity is becoming easily accessible. A common presentation of hereditary TTP is neonatal severe hemolysis and hyperbilirubinemia. However, the median age of diagnosis is not until 5.5 years. Plasma is effective treatment for exacerbations and for prophylaxis. Plasma may be replaced by recombinant ADAMTS13 when it becomes available. Acquired TTP is more frequent in older children, in whom it is more common in girls and is commonly associated with systemic lupus erythematosus. For acquired TTP, plasma exchange and immunosuppression are the current treatment for acute episodes; caplacizumab is now commonly used in adults and may replace plasma exchange.
我们描述了遗传性和获得性自身免疫性血栓性血小板减少性紫癜（TTP）患儿的初始表现，以及如何及时诊断和有效治疗。这些疾病不常见，但常被误诊，可能迅速致命。TTP 是由严重缺乏血浆蛋白酶，解整合素金属蛋白酶与血栓反应蛋白 1 型基序成员 13（ADAMTS13）引起的。ADAMTS13 活性的测量现在变得容易获得。遗传性 TTP 的常见表现是新生儿严重溶血性贫血和高胆红素血症。然而，中位诊断年龄直到 5.5 岁。血浆是治疗恶化和预防的有效方法。当重组 ADAMTS13 可用时，它可能会替代血浆。获得性 TTP 在年龄较大的儿童中更为常见，在女孩中更为常见，常与系统性红斑狼疮有关。对于获得性 TTP，血浆置换和免疫抑制是急性发作的当前治疗方法；卡普拉珠单抗现在常用于成人，可能会替代血浆置换。
