耳硬化症的遗传倾向及其防治的探讨

The hereditary liability of otosclerosis and the strategies for treatment and prevention

目的 探讨具有遗传倾向的耳硬化症的防治。方法 回顾分析 6个家庭 14例患者的诊断、治疗情况及追踪结果 ,根据活动型耳硬化症的病理特征 ,提出防治的可行性方案。结果 6个家庭 14例患者均经听力学和 /或手术及病理学确诊。 11例作了镫骨手术 ,其中 10例选听力损失较重侧行手术 ,1例双耳先后作手术 ,听力均有不同程度的改善 ,平均提高 2 3dB。 3例未行镫骨手术 :1例未接受治疗 ;2例已建议作手术 ,现在口服硫酸软骨素的治疗中。结论 每隔 6～ 12个月对耳硬化症高发家庭的青年成员检查一次听功能是可取的。听力学和影像学检查对早期诊断、及时治疗具有重要意义。药物对耳硬化症的防治作用应予重视。镫骨手术对临床耳硬化症有防止病情恶化和治疗耳聋的双重作用。在无手术指征的前提下则宜配戴助听器。

Objective Otosclerosis is a disease of hereditary liability. It might be related to an autosomal dominant inheritance. The genetic penetrance is determined by multifactorial influences. This paper was designed to study the reasonable strategies for prevention and treatment of this disease. Methods A retrospective review derived from data of the management and follow up of 14 cases in 6 families. According to the special pathological features of active phase of the otospongiosis, the suitable strategies for prevention and treatment of this disease were suggested. Results Diagnosis of 14 cases were confirmed by audiological ,operative and /or pathological examinations. Eleven of fourteen cases underwent stapedectomy, in which 10 cases had the surgery on the ear with severer hearing loss, and one case on both sides. In all of the surgical cases, hearing levels improved significantly. Three cases have not yet received the stapedectomy, in which two cases scheduled for the surgery are currently treated by chondroitin sulfate and one case refused the surgical treatment due to financial shortage. Conclusion Examination of the ear function at regular intervals (6 12 months) is recommended for the adults among the family members with high incidence of otosclerosis. Audiological and radiological examination play an important role in early diagnosis and treatment. Attention should be paid to the medicine for management and prevention of this disease. Stapedectomy is an optimal choice for clinical otosclerosis not only due to its capacity to improve the hearing level but also to prevent the advance of hearing loss. Hearing aid is the suitable choice if stapedectomy is contraindicated.