Yoshino Teruhiko, Kuriyama Takuro, Utsumi Sae, Shimakawa Takashi, Minami Mariko, Hayashi Masayasu, Matsuo Yayoi, Kokame Koichi, Nakamura Eriko, Matsumoto Masanori, Eto Tetsuya, Taniguchi Shuichi
Department of hematology, Hamanomachi Hospital.
Department of Molecular Pathogenesis, National Cerebral and Cardiovascular Center.
Rinsho Ketsueki. 2024;65(3):142-146. doi: 10.11406/rinketsu.65.142.
A 27-year-old woman was diagnosed with idiopathic thrombocytopenic purpura in the neonatal period, and was admitted to our hospital after presenting with impaired consciousness, purpura, nausea and vomiting, with a platelet count of 10×10/l. Congenital thrombotic thrombocytopenic purpura (cTTP) was suspected on the basis of recurrent thrombocytopenia and impaired consciousness, so tests for ADAMTS13 activity and inhibitor were performed. ADAMTS13 activity was severely decreased, ADAMTS13 inhibitor was negative, and platelet count increased after transfusion of fresh frozen plasma. These findings and the results of genetic testing done on all family members led to a diagnosis of cTTP. cTTP requires differential diagnosis even in adults. If a patient diagnosed with ITP in childhood has a history or findings that suggest cTTP during follow-up observation, it is necessary to actively consider ADAMTS13 testing.
一名27岁女性在新生儿期被诊断为特发性血小板减少性紫癜，此次因意识障碍、紫癜、恶心和呕吐入院，血小板计数为10×10⁹/L。基于反复血小板减少和意识障碍怀疑为先天性血栓性血小板减少性紫癜（cTTP），因此进行了ADAMTS13活性和抑制剂检测。ADAMTS13活性严重降低，ADAMTS13抑制剂为阴性，输注新鲜冰冻血浆后血小板计数升高。这些发现以及对所有家庭成员进行的基因检测结果导致cTTP的诊断。即使在成年人中，cTTP也需要进行鉴别诊断。如果一名儿童期被诊断为ITP的患者在随访观察期间有提示cTTP的病史或发现，有必要积极考虑进行ADAMTS13检测。
