背景:遗传性抗凝血酶缺乏症(ATD)是血栓性缺陷的主要原因。基因检测在遗传性血栓形成的诊断中具有重要价值。在这里,我们报告了我们医院收治的一例遗传性ATD.我们包括家谱的结果,并讨论了遗传检测在遗传性血栓症高危人群中的意义。
方法:一名16岁男性患者出现胸闷,呼吸急促,喘息,剧烈运动2周后出现间歇性发热(高达39°C)。他还咳嗽,痰呈白色,痰中有少量鲜红色的血液,偶尔有背痛。
方法:血液检查显示患者的抗凝血酶III浓度和活性均显着降低至41%和43.2%,分别。增强的胸部计算机断层扫描显示右肺下叶有肺梗塞,双侧肺动脉和分支有多个栓塞。下静脉血管造影显示下腔静脉和左髂总静脉有对比剂充盈缺损。血栓形成被认为是鉴别诊断。他的父亲和叔叔也有血栓形成史。患者被诊断为遗传性ATD。Further,收集家族成员的外周静脉血样本进行全外显子组基因测序,并采用Sanger测序验证该家族的基因突变位点。患者及其父亲有一个SERPINC1基因重复突变:c.1315_1345dupCCTTTCCTCCTGGGTTTTAAGAAGAAGTCCTCCTC(NM000488.4)。
方法:插入下腔静脉滤器以避免下肢血栓脱落。经股静脉插管间歇性注射尿激酶溶栓。依次给予肝素联合华法林抗凝治疗。达到国际标准化比率后,肝素停药,并继续口服华法林抗凝治疗.放电后,患者改用利伐沙班作为口服抗凝治疗.
结果:患者临床症状消失。复查显示血栓负荷比以前少,然后移除下腔静脉滤器。
结论:本报告强调基因检测和表型分析是研究遗传性ATD的重要手段。
BACKGROUND: Inherited antithrombin deficiency (ATD) is a major cause of thrombotic deficiency. Genetic testing is of great value in the diagnosis of hereditary thrombophilia. Herein, we report a
case of inherited ATD admitted to our hospital. We include the results of genealogy and discuss the significance of genetic testing in high-risk groups of hereditary thrombophilia.
METHODS: A 16-year-old male patient presented with chest tightness, shortness of breath, wheezing, and intermittent fever (up to 39 °C) after strenuous exercise for 2 weeks. He also had a cough with white sputum with a small amount of bright red blood in the sputum and occasional back pain.
METHODS: The blood tests showed that the patient\'s antithrombin III concentration and activity were both significantly reduced to 41% and 43.2%, respectively. Enhanced chest computed tomography scans showed pulmonary infarction in the lower lobe of the right lung with multiple embolisms in the bilateral pulmonary arteries and branches. Lower vein angiography revealed a contrast-filling defect of the inferior vena cava and left common iliac vein. Thrombosis was considered as a differential diagnosis. His father and his uncle also had a history of thrombosis. The patient was diagnosed with inherited ATD. Further, peripheral venous blood samples of the family members were collected for whole-exome gene sequencing, and Sanger sequencing was used to verify the gene mutation site in the family. The patient and his father had a SERPINC1 gene duplication mutation: c.1315_1345dupCCTTTCCTGGTTTTTAAGAGAAGTTCCTC (NM000488.4).
METHODS: An inferior vena cava filter was inserted to avoid thrombus shedding from the lower limbs. Urokinase was injected intermittently through the femoral vein cannula for thrombolysis. Heparin combined with warfarin anticoagulant therapy was sequentially administered. After reaching the international normalized ratio, heparin was discontinued, and oral warfarin anticoagulant therapy was continued. After discharge, the patient was switched to rivaroxaban as oral anticoagulation therapy.
RESULTS: The patient\'s clinical symptoms disappeared. reexamination showed that the thrombotic load was less than before, and the inferior vena cava filter was then removed.
CONCLUSIONS: By this report we highlight that gene detection and phenotypic analysis are important means to study inherited ATD.