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[一例喹硫平诱发的先天性血栓性血小板减少性紫癜,成年期诊断的非典型表型]

[A case of quetiapine-induced congenital thrombotic thrombocytopenic purpura, atypical phenotype diagnosed in adulthood].

作者信息

Gustafsson Helena, Karpman Diana

机构信息

Hematologmottagningen, Internmedicin, Gävle.

Institution för kliniska vetenskaper, Lunds Universitet, Avdelning för pediatrik Lund, Sweden Institution för kliniska vetenskaper, Lunds Universitet, Avdelning för pediatrik Lund, Sweden.

出版信息

Lakartidningen. 2019 Feb 12;116:FF4R.

Abstract

Congenital thrombocytopenic purpura (TTP) is a rare but serious condition. We present a case of a 29-year-old woman, diagnosed with this disease in adulthood. The episode that led to diagnosis was triggered by quetiapine. She presented with neurological symptoms and laboratory findings including low platelets and elevated creatinine. Interestingly, the signs of hemolysis were very subtle. Her symptoms were relieved by withdrawal of the medicine. The diagnosis was confirmed by very low ADAMTS13 activity, lack of antibodies against ADAMTS13 and the presence of a compound heterozygous ADAMTS13 mutation. Despite prophylactic plasma infusions, the patient developed a second episode of microangiopathy, leading to an extensive cerebral infarction. It is possible that even the latter episode was triggered by drugs. We suggest that the diagnosis of TTP should be considered in patients with neurological symptoms and unexplained thrombocytopenia.

摘要

先天性血小板减少性紫癜(TTP)是一种罕见但严重的疾病。我们报告一例29岁成年女性患此病的病例。导致诊断的发作由喹硫平引发。她出现了神经症状以及包括血小板减少和肌酐升高在内的实验室检查结果。有趣的是,溶血迹象非常不明显。停药后她的症状得到缓解。通过极低的ADAMTS13活性、缺乏抗ADAMTS13抗体以及存在复合杂合性ADAMTS13突变确诊。尽管进行了预防性血浆输注,患者仍发生了第二次微血管病发作,导致广泛的脑梗死。甚至后一次发作也有可能是由药物引发的。我们建议,对于有神经症状和不明原因血小板减少的患者应考虑TTP的诊断。

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