中华耳科学杂志2023，Vol.21Issue(6)：830-835,6.DOI:10.3969/j.issn.1672-2922.2023.06.012
大前庭水管综合征患儿的听力学及致病基因特征
Audiology and Pathogenic Genes Characteristics in Children with Large Vestibular Aqueduct Syndrome
摘要
Abstract
Objective To report audiology and pathogenic genes characteristics in infants and children with large vestibular aqueduct syndrome(LVAS),to provide basis for early diagnosis,intervention and genetic counseling.Meth-od Audiology and deafness gene test data were retrospectively analyzed in 39 children(0-10 years old,78 ears)with large vestibular aqueduct syndrome diagnosed by HRCT or MRI.Results ABR tests showed specific acoustically evoked short latency negative responses(ASNRs)at 3ms in 26 cases(51 ears,64.56％).DPOAEs were negative in all 78 ears.Tympanometry was type A with a single positive pressure peak in all ears,with acoustic reflex obtainable in 6 ears.Twenty eight children(56 ears)were able to cooperate in audiometry,in whom 42 ears(75％)demonstrated air-bone gap over low to mid frequencies(＜2 kHz)and mixed high frequency loss.In the 12 cases(24 ears)in which ABRs were absent at the maximum stimulus output,auditory steady-state responses(ASSRs)were obtainable in 21 ears(87.5％).A total of 21 homozygous mutations and 18 complex heterozygous mutations of the SLC26A4 gene were de-tected.Conclusion Audiologic features in children with LVAS may include normal middle ear function with pure tone audiometry showing air-bone gap over low to mid frequencies and ABR test showing ASNRs,which can be used for ear-ly diagnosis of LVAS.In the case of absent ABRs,ASSRs can be used to assess residual hearing in these children.Anal-ysis of the SLC26A4 gene full coding region sequence is an effective means to identify the genetic etiology in children with LVAS.关键词
大前庭水管综合征/声诱发短潜伏期负反应/气-骨导差/SLC26A4基因Key words
sarge vestibular aqueduct syndrome/acoustically evoked short latency negative response/air-bone gap/SLC26A4 gene分类
医药卫生引用本文复制引用
彭丹丹,张金慧..大前庭水管综合征患儿的听力学及致病基因特征[J].中华耳科学杂志,2023,21(6):830-835,6.基金项目
This work was supported by the National natural science foundation of China(Grant No.81700905)国家自然科学基金(81700905) （Grant No.81700905）
