摘要目的:通过基因（ SERPINC1）序列分析提高对抗凝血酶Ⅲ（antithrombin Ⅲ，AT Ⅲ）缺乏导致的急性肺栓塞的临床诊治水平。 方法:报道1例33岁男性胸痛患者的诊断和治疗过程，通过高通量二代基因测序检测7项易栓症基因的所有外显子及侧翼序列，使用数据库查询基因突变谱，使用Mutation Taster软件预测突变基因的致病概率。结果:该例患者确诊为急性肺栓塞（中低危），病程中发现患者AT-Ⅲ活性持续低于50%，给予那曲肝素钙联合华法林抗凝，患者咯血增多，更换用药为利伐沙班，栓子逐渐吸收。基因检测显示 SERPINC1基因c.1148T>A（p.L383H）杂合错义突变，检索基因数据库并使用蛋白功能损伤预测软件确认该突变位点为新发致病突变，致病概率0.999 999 851 200 991，经文献检索目前国内外尚未见报道。 结论:SERPINC1基因c.1148T>A（p.L383H）为新发致病突变，补充和更新了遗传性AT Ⅲ缺乏症基因突变谱，新型口服抗凝药（利伐沙班）或可作为此类患者的一线治疗药物。

abstractsObjective:To improve the clinical management of acute pulmonary embolism caused by antithrombin Ⅲ (AT Ⅲ) deficiency through gene sequence analysis of the SERPINC1 gene. Methods:The diagnosis and treatment of a 33-year-old male patient with chest pain was reviewed. All exon sequences and flanking regions of 7 related genes of thrombophilia were subjected to detection by high-throughput next generation sequencing technology. The gene mutation was inquired in the gene database and the pathogenic probability of the mutant gene was predicted by Mutation Taster software.Results:The patient was diagnosed with acute pulmonary embolism (intermediate-low risk), with the ATⅢ activity less than 50%. Anticoagulation with nadroparin calcium combined with warfarin was administrated, but hemoptysis was aggravated, and then the medication was replaced by anticoagulant of rivaroxaban. In the end, the embolus was gradually absorbed. A heterozygous missense mutation of c.1148T>A (p.L383H) in the SERPINC1 gene was detected. The gene database and Mutation Taster confirmed the mutation as a new pathogenic mutation with the pathogenic probability of 0.999 999 851 200 991. Conclusions:C.1148T>A (p.L383H) is a novel pathogenic mutation in SERPINC1 gene that complements and updates the gene mutation spectrum of hereditary AT Ⅲ deficiency. The new oral anticoagulant rivaroxaban may be used as the first-line treatment for these patients.