Prothrombotic Gene Mutations in Patients With Sudden Sensorineural Hearing Loss and Cardiovascular Thrombotic Disease

被引:45
作者
Capaccio, Pasquale [1 ]
Cuccarini, Valeria [1 ]
Ottaviani, Francesco [2 ,5 ]
Fracchiolla, Nicola Stefano [3 ]
Bossi, Anna [4 ]
Pignataro, Lorenzo [1 ]
机构
[1] Univ Milan, Fdn IRCCS Policlin Mangiagalli & Regina Elena, Dept Otorhinolaryngol & Ophthalmol Sci, I-20122 Milan, Italy
[2] Univ Milan, Fdn IRCCS Policlin Mangiagalli & Regina Elena, Dept Clin Sci, I-20122 Milan, Italy
[3] Univ Milan, Fdn IRCCS Policlin Mangiagalli & Regina Elena, Operat Unit Hematol, I-20122 Milan, Italy
[4] Univ Milan, Fdn IRCCS Policlin Mangiagalli & Regina Elena, Inst Med Stat, I-20122 Milan, Italy
[5] L Sacco Hosp Vialba, Dept Clin Sci, Div Otolaryngol, Milan, Italy
关键词
cardiovascular thrombotic disease; MTHFR gene mutation; platelet gene mutation; prothrombin gene mutation; sudden sensorineural hearing loss; V Leiden gene; FACTOR-V-LEIDEN; METHYLENETETRAHYDROFOLATE-REDUCTASE GENE; VENOUS THROMBOEMBOLISM; RISK-FACTORS; DNA HYPOMETHYLATION; G20210A MUTATIONS; ISCHEMIC-STROKE; MTHFR C677T; POLYMORPHISM; HYPERHOMOCYSTEINEMIA;
D O I
10.1177/000348940911800308
中图分类号
R76 [耳鼻咽喉科学];
学科分类号
100213 ;
摘要
Objectives: Impaired cochlear perfusion seems to be an important event in sudden sensorineural heading loss. Prothrombotic gene mutations have been related to vascular disorders and sudden hearing loss. We assessed the prothrombotic risk in 10 patients with sudden sensorineural hearing loss who had previously experienced cardiovascular events to support its vascular pathogenesis. Methods: Ten patients underwent hematologic tests (MTHER C677T/A1298C, prothrombin G20210A, platelet were compared with those of 100 previously investigated patients With Sudden hearing loss alone and those of 200 healthy controls. DNA was isolated from peripheral blood leukocytes, and the gene mutations were investigated by polymerase chain reaction and a LightCycler DNA analyzer. Results: Two patient had 2 mutant alleles, 6 had 3, and 2 had 4. The mean homocysteine, cholesterol, and fibrinogen levels were above the Upper limit of normal; the mean folate levels were slightly above the lower limit of normal. Multiple mutations were more frequent in the patient group than in the previously analyzed patients and healthy controls. Conclusions: The association between inherited and acquired prothrombotic factors ill Patients With sudden sensorineural hearing loss and thrombotic diseases in other sitcs that a multifactorial mechanism may underlic microvascular cochlear impairment. Hematologic investigation, including MTHFR, prothrornbin, platelet,and V Leiden genotyping, may help to detect patients at potential risk of recurrent hearing loss and Multiple microvascular diseases. and could be usefully performed in otherwise idiopathic Sudden sensorineural hearing loss.
引用
收藏
页码:205 / 210
页数:6
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