鳃耳肾综合征临床特点与遗传学的研究进展

Advances in clinical characteristics and genetics of branchio-oto-renal syndrome

耳聋是一种常见的公共健康问题,对社会经济造成极大损失。鳃耳肾综合征(BORS)是常染色体显性遗传性综合征型耳聋疾病,在人群中的发病率约为1/40 000,而在聋哑儿童中的发病率约为2%。国内对BORS的研究报道较少,如对该综合征没有充分的认识,易忽略相关临床表现的联系而将该类患者诊断为单纯性耳聋、耳前瘘管或鳃裂瘘等。本文主要对该病的临床特点、治疗现状及遗传学研究进展作一综述。

Deafness is a common public health problem that results in great losses to the social economy. The branehio-oto-renal syndrome （BORS） is an autosomal dominant syndromie hearing loss affecting about one in 40 000 people worldwide and 2% of the profoundly deaf children. However, there are few reports on the research of BOR syndrome in China. If it is not fully understood, it might be easy to ignore the correlation of clinical manifestations and thus misdiagnose the patients as simple deafness, anterior ear fistulas or branchial fistulas. The purpose of this paper is to review the advances in clinical manifestations, treatment and genetics of BOR syndrome.