中国家族性良性阵发性位置性眩晕临床分析

Clinical features of Chinese familial benign paroxysmal positional vertigo

目的了解中国家族性良性位置性眩晕(benign paroxysmal positional vertigo,BPPV)家系临床特点,提高对BPPV家族性可能的遗传病因认识。方法回顾分析我院诊断的1个家族性BPPV家系,并检索维普电子期刊全文数据库1989~2016年间收录我国的家族性BPPV家系的研究文献,分析中国家族性BPPV的临床特点。结果我院诊断1家系及文献检索出的2个家族性BPPV家系,共计3个家系,包括患者23例,其中男性10例,女性13例,起病年龄最小者7岁,最大者70岁,病程明确者为6 m至36 y,平均病程6.5 y。3个家系中先证者及其他患者均表现为头部位置突然变化后诱发的眩晕,伴视物旋转、恶心、呕吐,Roll-Test滚转试验或Dix-Hallpike试验可诱发眼震,经手法复位及相关药物治疗后患者头晕症状好转,均表现为家族成员多发性,且已排外其他原因所致眩晕,依据BPPV的4条诊断标准,上述成员均为诊断明确的BPPV,根据临床表现为家族聚集性BPPV,考虑诊断为家族性良性阵发性位置性眩晕,但均未检测目前国外已报道的2个与良性阵发性位置性眩晕相关的基因位点(良性复发性眩晕1(Benign Recurrent Vertigo 1,BRV1)定位在6p,BRV2定位在22q12)。结论家族遗传性可能为中国良性阵发性位置性眩晕的罕见病因,目前遗传机制尚不明确,需引起重视及进一步研究。

Objective To investigate the clinical features of patients with familial benign paroxysmal positional vertigo（BPPV） in China and improve the understanding of the potential rare cause of hereditary BPPV.Methods Retrospective analysis of a familial BPPV which diagnose in our hospital,search and retrieval the related family of BPPV literature from the VIP electronic journal full-text database（1989-2016）,and analysis the clinical characteristics of Chinese family of BPPV.Results Totally,3 families of familial BPPV patients including 10 males and 13 females were included in the study.The minimum age of onset was 7 years old,maximum age of onset was 70 years old.The course was from 6 months to 36 years.The average course duration was 6.5 years.All the 3 probands and other patients showed vertigo induced by a sudden change in the position of the head,with circumrotating,nausea,vomiting.Roll-Test or Dix-Hallpike test can induce nystagmus.The related dizziness symptoms of the patients can be improved after manual reduction and some drug treatment.The patients of every family were multiple and other causes of vertigo were excluded.According to 4 criteria for the diagnosis of BPPV and clinical manifestations,all the members were diagnosed familial benign paroxysmal positional vertigo,but were not detected in 2 associated with BPPV loci has been reported abroad（the benign recurrent vertigo（Benign 1Recurrent 1 Vertigo,BRV1） located in the 6p,BRV2 in 22q12）.Conclusion The family heredity was possible a rare cause of benign positional vertigo in China,but the genetic pathogenic mechanisms was ambiguous.We need pay more attention to this cause and start further study.