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凝血因子V莱顿突变和凝血酶原G20210A突变在突发性感音神经性听力损失中的作用。

The role of factor V Leiden and prothrombin G20210A mutations in sudden sensorineural hearing loss.

作者信息

Görür Kemal, Tuncer Ulkü, Eskandari Gülçin, Ozcan Cengiz, Unal Murat, Ozsahinoglu Can

机构信息

Department of Otorhinolaryngology, University of Mersin School of Medicine, Mersin, Turkey.

出版信息

Otol Neurotol. 2005 Jul;26(4):599-601. doi: 10.1097/01.mao.0000178120.46290.6c.

DOI:10.1097/01.mao.0000178120.46290.6c
PMID:16015153
Abstract

OBJECTIVES

To investigate the incidence of factor V Leiden and prothrombin G20210A in sudden sensorineural hearing loss patients.

STUDY DESIGN

The patient group for this study was selected prospectively in the case of 28 patients and retrospectively in the case of another 28.

SETTING

Tertiary referral center.

PATIENTS

Fifty-six patients (29 female, 27 male) with sudden sensorineural hearing loss (SSHL) and 95 control subjects (48 female, 47 male) were enrolled in this study. The age of the control subjects were between 26 and 76 (38 +/- 16.7), and that of the patients were between 10 and 87 (42.6 +/- 18.2).

INTERVENTION

The factor V Leiden and prothrombin G20210A mutations were detected by rapid polymerase chain reaction amplification of genomic DNA extracted from the SSHL patients' peripheral blood cells.

MAIN OUTCOME MEASURE

Thrombotic microangiopathic disorders are characterized by widespread microvascular thrombosis leading to end-organ injury. The mutations of factor V Leiden and prothrombin gene are known as genetic risk factors for thrombotic microangiopathy in normal patients. SSHL may occur with occlusion of the cochlear blood supply by microthromboangiopathy.

RESULTS

Factor V Leiden mutation was found to be higher in SSHL patients when compared with control subjects (16.1% vs 5.3%). The difference between the two groups was found to be statistically significant (p = 0.02). However, statistical significance was not found between the groups in regard to prothrombin G20210A mutation. Factor V Leiden and prothrombin gene mutations were heterozygous in all of the subjects.

CONCLUSION

A significant association between factor V Leiden mutation and idiopathic SSHL could be shown in this study. There was no correlation, however, between the occurrence of idiopathic SSHL and prothrombin mutation.

摘要

目的

研究因子V莱顿突变和凝血酶原G20210A在突发性感音神经性听力损失患者中的发生率。

研究设计

本研究的患者组中,28例患者为前瞻性选择,另外28例为回顾性选择。

研究地点

三级转诊中心。

患者

本研究纳入了56例突发性感音神经性听力损失(SSHL)患者(29例女性,27例男性)和95例对照者(48例女性,47例男性)。对照者年龄在26至76岁之间(38±16.7),患者年龄在10至87岁之间(42.6±18.2)。

干预措施

通过对从SSHL患者外周血细胞中提取的基因组DNA进行快速聚合酶链反应扩增,检测因子V莱顿突变和凝血酶原G20210A突变。

主要观察指标

血栓性微血管病的特征是广泛的微血管血栓形成,导致终末器官损伤。因子V莱顿突变和凝血酶原基因突变是正常患者血栓性微血管病的已知遗传危险因素。SSHL可能因微血管病导致耳蜗血供阻塞而发生。

结果

与对照者相比,SSHL患者中因子V莱顿突变的发生率更高(16.1%对5.3%)。两组之间的差异具有统计学意义(p = 0.02)。然而,在凝血酶原G20210A突变方面,两组之间未发现统计学意义。所有受试者的因子V莱顿和凝血酶原基因突变均为杂合子。

结论

本研究表明因子V莱顿突变与特发性SSHL之间存在显著关联。然而,特发性SSHL的发生与凝血酶原突变之间没有相关性。

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