论文部分内容阅读
目的寻找肺血栓栓塞症(PTE)的病因,提高对先天性睾丸发育不全(Klinefelter)综合征并发静脉血栓栓塞症(VTE)的认识。方法结合北京协和医院2005-01-31收治的1例Klinefelter综合征(47XXY)并发急性大面积PTE患者的临床资料和文献复习,分析其病因、临床表现、诊断、治疗及预防。结果患者血浆激素水平检测:睾酮(4.8nmol/L)显著降低,卵泡刺激素(31.3U/L)和黄体生成素(29.1U/L)均明显升高,雌二醇(174.53pmol/L)正常高限值;凝血和纤溶检测:蛋白C(1.18mg/L)显著降低,PC活性(19%)明显减弱,蛋白S(15.70mg/L)降低,凝血酶调节蛋白(1.85μg/L)降低,总同型半胱氨酸(21.63μmol/L)升高。结论Klinefelter综合征并非少见疾病,VTE是其主要并发症之一,低睾酮、高雌激素、X性染色体数目增多、先天或获得性易栓症使VTE危险性显著增高。对无明确深静脉血栓形成而发生急性大面积PTE的患者(特别是中青年),应进行易栓症方面的检测。
Objective To investigate the etiology of pulmonary thromboembolism (PTE) and to improve the understanding of the pathogenesis of venous thromboembolism (VTE) in congenital testicular hypoplasia (Klinefelter syndrome). Methods The clinical data and literature review of 1 Klinefelter syndrome (47XXY) complicated with acute large area PTE admitted to Peking Union Medical College Hospital from January to 31, 2005 were analyzed retrospectively to analyze the etiology, clinical manifestations, diagnosis, treatment and prevention. Results The plasma levels of testosterone (4.8 nmol / L) were significantly lower in patients with testosterone (31.3 U / L) and luteinizing hormone (29.1 U / L) Normal high limit; coagulation and fibrinolysis detection: protein C (1.18mg / L) decreased significantly, PC activity (19%) decreased significantly, protein S (15.70mg / L) decreased, thrombin regulatory protein ) Decreased, total homocysteine (21.63μmol / L) increased. Conclusions Klinefelter syndrome is not a rare disease. VTE is one of the major complications. Low testosterone, high estrogen, increased number of X chromosomes, and congenital or acquired thrombophilia may increase the risk of VTE. Patients without clear deep venous thrombosis and acute large area PTE (especially middle-aged and young people) should be tested for thrombophilia.