Case Report: Unmasked Inherited Dysfibrinogenemia After Everolimus Therapy.

Case Report: Unmasked Inherited Dysfibrinogenemia After Everolimus Therapy.
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DOI:
10.3389/fmed.2020.591546
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发表时间:
2020
影响因子:
3.9
通讯作者:
Schmaier AH
Schmaier AH
中科院分区:
医学3区
文献类型:
--
作者:
Merkulova AA;Mitchell SC;Merkulov S;Wolberg AS;Neerman-Arbez M;Schmaier AH

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一名之前无止血症状的常见可变低丙种球蛋白血症患者接受了依维莫司治疗,以防止肝脏生长。几个月后,患者出现严重出血性疾病。出血是由于纤维蛋白聚合缺陷所致,经测序显示为Krakow III型纤维蛋白原异常血症。mTor抑制剂的消除改善了临床出血状态。
A previously hemostatically asymptomatic patient with common variable hypogammaglobulinemia was given everolimus to prevent growth of her liver. Within several months, the patient developed a severe bleeding disorder. The bleeding was due to fibrin polymerization defect that upon sequencing was shown to be dysfibrinogenemia Krakow III. Elimination of the mTor inhibitor ameliorated the clinical bleeding state.
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