Forli F, Passetti S, Mancuso M, Seccia V, Siciliano G, Nesti C, Berrettini S
Division of ENT, Department of Neuroscience, University of Pisa, Via Savi 10, Pisa, 56126, Italy.
Biosci Rep. 2007 Jun;27(1-3):113-23. doi: 10.1007/s10540-007-9040-5.
Mitochondrial diseases (MD) are a clinically heterogeneous group of disorders that arise as a result of dysfunction of the mitochondrial respiratory chain. Sensorineural hearing loss (SNHL) is often associated to mitochondrial dysfunctions both in syndromic, nonsyndromic forms. SNHL has been described in association to different mitochondrial multisystemic syndromes, often characterized by an important neuromuscular involvement. Because of the clinical relevance of the associated neurological symptoms, the occurrence of SNHL is often underestimated and undiagnosed. In this study we evaluated the incidence of SNHL in a group of 17 patients with MD. We detected some degree of hearing impairment in 8/17 patients (47%), thus confirming the frequency of hearing impairment in MD. Furthermore, we want to highlight the role of the audiologist and otolaryngologist in the diagnosis and characterization of a MD, which should be suspected in all the cases in which the hearing loss is associated to signs and symptoms characteristic of mitochondrial dysfunction, especially if the family history is positive for hearing loss or MD in the maternal line.
线粒体疾病（MD）是一组临床异质性疾病，由线粒体呼吸链功能障碍引起。感音神经性听力损失（SNHL）在综合征性和非综合征性形式中通常都与线粒体功能障碍有关。SNHL已被描述与不同的线粒体多系统综合征相关，这些综合征通常以重要的神经肌肉受累为特征。由于相关神经症状的临床相关性，SNHL的发生率常常被低估且未被诊断。在本研究中，我们评估了17例MD患者中SNHL的发生率。我们在8/17例患者（47%）中检测到一定程度的听力损害，从而证实了MD中听力损害的频率。此外，我们想强调听力学家和耳鼻喉科医生在MD诊断和特征描述中的作用，在所有听力损失与线粒体功能障碍特征性体征和症状相关的病例中都应怀疑MD，特别是如果母系家族史中有听力损失或MD阳性时。
