|Audiological evaluation in Chinese patients with mitochondrial encephalomyopathies|
|Liu Yuhe1; Xue Junfang1; Zhao Danhua2; Chen Li1; Yuan Yun2; Wang Zhaoxia2|
|关键词||mitochondrial disorder hearing impairment auditory neuropathy spectrum disorder|
|刊名||CHINESE MEDICAL JOURNAL|
|WOS标题词||Science & Technology|
|类目[WOS]||Medicine, General & Internal|
|研究领域[WOS]||General & Internal Medicine|
|关键词[WOS]||SENSORINEURAL HEARING-LOSS ; DNA A3243G MUTATION ; POINT MUTATION ; DEAFNESS ; MELAS ; PHENOTYPES ; CHILDREN ; DISEASE ; GENE|
Background Hearing impairment has been reported to be common in patients with mitochondrial disorders, a group of diseases characterized by pleiomorphic clinical manifestations due to defects in oxidative phosphorylation of mitochondria. This study aimed to investigate the audiological characteristics in a large cohort of patients with mitochondria! disease.
Methods Comprehensive audiological evaluations, including pure tone audiometry, tympanometry, speech audiometry, otoacoustic emissions, electrocochleography and auditory brainstem evoked potentials, were performed in 73 Chinese patients with mitochondrial encephalomyopathy and with confirmed mitochondria! DNA (mtDNA) defects.
Results Among the patients, 71% had hearing impairment. However, the incidence rate and severity of hearing impairment were much less in the chronic progressive external ophthalmoplegia (CPEO) subtype than in the mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), myoclonic epilepsy with ragged red fibers (MERRF) and Kearns-Sayre syndrome (KSS) subtypes. While most of our patients had a predominantly cochlea origin for the hearing deficit, five patients had an auditory neuropathy spectrum disorder and three patients had impairment of both cochlea and auditory cortex.
Conclusions Various portions of the auditory system could be involved in patients with mitochondrial diseases, including cochlea, auditory nerve, auditory pathway and cortex. Hearing loss was more associated with multisystem involvement. Genotype, mutant load of mtDNA and other unknown factors could contribute to heterogeneity of hearing impairment in mitochondria! disease.
|作者单位||1.Peking Univ, Hosp 1, Dept Otolaryngol Head & Neck Surg, Beijing 100034, Peoples R China|
2.Peking Univ, Hosp 1, Dept Neurol, Beijing 100034, Peoples R China
|Liu Yuhe,Xue Junfang,Zhao Danhua,et al. Audiological evaluation in Chinese patients with mitochondrial encephalomyopathies[J]. CHINESE MEDICAL JOURNAL,2014,127(12):2304-2309.|
|APA||Liu Yuhe,Xue Junfang,Zhao Danhua,Chen Li,Yuan Yun,&Wang Zhaoxia.(2014).Audiological evaluation in Chinese patients with mitochondrial encephalomyopathies.CHINESE MEDICAL JOURNAL,127(12),2304-2309.|
|MLA||Liu Yuhe,et al."Audiological evaluation in Chinese patients with mitochondrial encephalomyopathies".CHINESE MEDICAL JOURNAL 127.12(2014):2304-2309.|