Criel M, Declau F, Schuermans C, Ver Elst K, Vermeiren S, Weekx S, Lemmens J
a Department of Laboratory Hematology , GZA Sint-Augustinus , Antwerp , Belgium.
b Department of Otorhinolaryngology , GZA Hospitals , Antwerp , Belgium.
Acta Clin Belg. 2017 Aug;72(4):274-277. doi: 10.1080/17843286.2016.1227907. Epub 2016 Sep 10.
Congenital prekallikrein deficiency is a rare disorder in which there is an in vitro clotting defect despite absence of bleeding or thrombotic tendency. In this report, a 15-year-old boy with an unexpected markedly prolonged activated partial thrombin time, a normal prothrombin time, and without personal nor familial history of bleeding or thrombosis is presented. Laboratory investigation revealed a severe prekallikrein deficiency. This case highlights the importance of following a diagnostic algorithm to establish the correct diagnosis. Moreover, by selecting appropriate laboratory tests, unnecessary and repeatedly testing can be avoided.
先天性前激肽释放酶缺乏症是一种罕见的疾病,尽管没有出血或血栓形成倾向,但存在体外凝血缺陷。在本报告中,呈现了一名15岁男孩,其活化部分凝血活酶时间意外明显延长,凝血酶原时间正常,且无个人或家族出血或血栓形成病史。实验室检查显示严重的前激肽释放酶缺乏。该病例强调了遵循诊断算法以确立正确诊断的重要性。此外,通过选择合适的实验室检查,可以避免不必要的反复检测。