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5 岁儿童获得性血栓性血小板减少性紫癜合并 Wiskott-Aldrich 综合征

Acquired Thrombotic Thrombocytopenic Purpura in a 5-Year-old Child With Wiskott-Aldrich Syndrome.

机构信息

Department of Pediatrics, Division of Allergy and Immunology.

Division of Hematology and Oncology, Research and Training Hospital of Sakarya University, Adapazari, Sakarya.

出版信息

J Pediatr Hematol Oncol. 2022 Mar 1;44(2):e434-e437. doi: 10.1097/MPH.0000000000002150.

Abstract

Thrombocytopenia is often seen as a laboratory finding during childhood. A supposed idiopathic thrombocytopenic purpura patient who was later diagnosed as Wiskott-Aldrich syndrome (WAS) and developed acquired thrombotic thrombocytopenic purpura (aTTP). Although autoimmune manifestations in WAS described, aTTP was reported just once. Five-year-old-boy was initially brought with cough, bloody stool (diarrhea), oral mucosal bleeding at 12th months of age. Following diagnosed with idiopathic thrombocytopenic purpura and receiving intravenous immunoglobulin, platelet count raised from 20,000 to 50,000/µL. One year after WAS diagnosis by mutation analysis, he presented with complaints of resistant fever, epistaxis, and melena. Hemoglobin decreased from 10 to 5.9 g/dL. Schistocytes in peripheral blood smear and high anti-ADAMTS-13 antibody level indicated development of aTTP.

摘要

血小板减少症在儿童时期常被视为实验室发现。一名疑似特发性血小板减少性紫癜患者,后被诊断为 Wiskott-Aldrich 综合征(WAS),并发展为获得性血栓性血小板减少性紫癜(aTTP)。尽管已有描述 WAS 中的自身免疫表现,但仅报告过一次 aTTP。一名 5 岁男孩最初因咳嗽、血性腹泻(腹泻)、12 个月时口腔黏膜出血而就诊。确诊为特发性血小板减少性紫癜并接受静脉注射免疫球蛋白治疗后,血小板计数从 20,000 升至 50,000/µL。通过突变分析诊断为 WAS 一年后,他出现发热、鼻出血和黑便(柏油样便)。血红蛋白从 10 降至 5.9 g/dL。外周血涂片中的裂体细胞和高抗 ADAMTS-13 抗体水平提示发生 aTTP。

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