Quintero Victor, Garcia-Pose Araceli, Barrios-Tascon Ana, Pacheco-Cumani Monica
Servicio de Pediatría, Hospital Universitario Infanta Sofia, San Sebastian de los Reyes, Madrid, Spain.
J Pediatr Hematol Oncol. 2014 Nov;36(8):653-5. doi: 10.1097/MPH.0000000000000180.
Congenital ADAMTS13 deficiency is a rare disease that leads to recurrent episodes of thrombotic thrombocytopenic purpura. We report a case that mimicked a recurring immune thrombocytopenic purpura in a child. Mild cases of ADAMTS13 deficiency may be initially confused with immune thrombocytopenic purpura if hemolytic anemia is not severe and renal or neurological symptoms are not present. Fresh frozen plasma is the treatment of choice in acute thrombotic thrombocytopenic purpura in ADAMTS13-deficient patients. The best long-term treatment for slightly symptomatic cases remains to be elucidated. Recombinant human ADAMTS13 factor will be a promising option when commercially available.
先天性ADAMTS13缺乏症是一种罕见疾病，可导致血栓性血小板减少性紫癜反复发作。我们报告了一例在儿童中表现类似复发性免疫性血小板减少性紫癜的病例。如果溶血性贫血不严重且无肾脏或神经症状，ADAMTS13缺乏症的轻症病例最初可能会与免疫性血小板减少性紫癜相混淆。新鲜冷冻血浆是ADAMTS13缺乏症患者急性血栓性血小板减少性紫癜的首选治疗方法。对于症状轻微的病例，最佳的长期治疗方法仍有待阐明。重组人ADAMTS13因子在上市后将是一个有前景的选择。
