听力学
感音神经性聋
听力损失
医学
粒线体疾病
测听
生物
线粒体DNA
遗传学
基因
作者
Alaa Koleilat,Gayla L. Poling,Lisa A. Schimmenti,Linda Hasadsri
出处
期刊:Ear and Hearing
日期:2023-11-06
标识
DOI:10.1097/aud.0000000000001442
摘要
Sensorineural hearing loss (SNHL) occurs commonly as part of mitochondriopathies and varies in severity and onset. In this study, we characterized hearing with specific consideration for hearing loss as a potential early indicator of mitochondrial disease (MD). We hypothesize that genetic testing at the earliest detection of SNHL may lead to an earlier MD diagnosis.We reviewed the clinical and audiometric data of 49 patients undergoing genetic testing for MD.One-third of individuals with molecularly confirmed MD presented with SNHL. On average, patients had hearing loss at least 10 years before genetic testing. The collective audiometric profile includes mild to moderate SNHL at lower frequencies and moderate SNHL at 2 kHz and higher frequencies.This study suggests that screening for SNHL could be an early indicator of MD. We propose that the audiometric profile for those with a MD diagnosis may have clinical triage utility.
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