Bradbeer Peter, Teague Lochie, Cole Nyree
Paediatric Haematology/Oncology, Starship Children's Hospital, Auckland, New Zealand.
J Paediatr Child Health. 2012 Oct;48(10):921-5. doi: 10.1111/j.1440-1754.2012.02517.x. Epub 2012 Aug 19.
The aim of this study was to review patterns of requests for heritable thrombophilia and to audit these findings against an international standard.
Review of requests for antithrombin, protein C, protein S, activated protein C resistance, Factor V Leiden and prothrombin G20210A mutation analysis in children <16 years between 1/1/2004 and 31/12/2009. Data for patient characteristics, test results, origin of request, requesting department and indication were obtained. The 2010 British Committee for Standards in Haematology (BCSH) clinical guidelines for testing for heritable thrombophilia was used as the standard for the audit.
On 269 patients, 379 requests were made. Thirty-four per cent of tests were abnormal but only 36% of abnormal tests were repeated. Seven per cent of patients were confirmed with a heritable thrombophilia. Thirty-four tests were performed on patients on anticoagulation. The median age was 6.903 years. Fifty-three per cent of requests came from a ward, 28% from outpatients, 14% from an intensive care department and 5% from the emergency department. Departments most frequently requesting tests were neurology (20%), paediatric intensive care (15%) and cardiology (12%). Indications for testing were arterial thrombosis (5%), cerebral vein thrombosis (4%), deep vein thrombosis (12%), stroke (23%), asymptomatic relative (6%), intra-abdominal vein thrombosis (8%), start oestrogen containing medication (2%), purpura fulminans (0.2%), heparin resistance (8%) and other (35%).
The large majority of requests did not satisfy the BCSH criteria. Requesting behaviours are haphazard. Better appreciation of the difficulties of interpreting results in children of different ages and in different clinical settings amongst paediatricians is required.
本研究旨在回顾遗传性血栓形成倾向的检测申请模式，并对照国际标准审核这些结果。
回顾2004年1月1日至2009年12月31日期间16岁以下儿童抗凝血酶、蛋白C、蛋白S、活化蛋白C抵抗、凝血因子V Leiden和凝血酶原G20210A突变分析的检测申请。获取患者特征、检测结果、申请来源、申请科室和检测指征的数据。将2010年英国血液学标准委员会（BCSH）遗传性血栓形成倾向检测临床指南用作审核标准。
对269例患者进行了379项检测申请。34%的检测结果异常，但仅36%的异常检测进行了复查。7%的患者被确诊为遗传性血栓形成倾向。对正在接受抗凝治疗的患者进行了34项检测。中位年龄为6.903岁。53%的申请来自病房，28%来自门诊，14%来自重症监护室，5%来自急诊科。最常申请检测的科室是神经科（20%）、儿科重症监护室（15%）和心内科（12%）。检测指征包括动脉血栓形成（5%）、脑静脉血栓形成（4%）、深静脉血栓形成（12%）、中风（23%）、无症状亲属（6%）、腹腔内静脉血栓形成（8%）、开始使用含雌激素药物（2%）、暴发性紫癜（0.2%）、肝素抵抗（8%）和其他（35%）。
绝大多数申请不符合BCSH标准。申请行为随意。儿科医生需要更好地认识到在不同年龄儿童和不同临床环境中解读检测结果的困难。
