Congenital hearing loss.
Congenital hearing loss.
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DOI：
10.1038/nrdp.2016.94
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发表时间：
2017-01-12
期刊：
影响因子：
--
通讯作者：
Boudewyns AN
中科院分区：
文献类型：
--
作者：
Korver AM;Smith RJ;Van Camp G;Schleiss MR;Bitner-Glindzicz MA;Lustig LR;Usami SI;Boudewyns AN
先天性听力损失（出生时听力损失）是儿童中最常见的慢性疾病之一。在大多数发达国家，新生儿听力筛查规划能够早期发现；早期干预将防止言语和语言发展的延迟，并对社会和情感发展以及生活质量产生持久的有益影响。听力损失诊断后，通常要寻找潜在的病因。先天性听力损失可能归因于环境和产前因素，这在低收入环境中普遍存在；先天性感染，特别是巨细胞病毒，也是听力损失的常见危险因素。在发达国家，遗传原因可能占大多数病例；突变可以影响听觉通路的任何组成部分，特别是内耳稳态（内淋巴的产生和维持）和机电转导（机械刺激转化为电化学活动）。一旦确定了听力损失的潜在原因，就可以指导治疗决策，指导预防和（遗传）咨询。治疗方案包括特定的抗菌药物治疗、颅面异常手术治疗和助听器。对听力损失的病理生理和分子机制的进一步了解，以及对基因检测最新进展的认识的提高，将促进新的治疗和筛查策略的发展。
Congenital hearing loss (hearing loss present at birth) is one of the most prevalent chronic conditions in children. In the majority of developed countries, neonatal hearing-screening programmes enable early detection; early intervention will prevent delays in speech and language development and have long-lasting beneficial effects on social and emotional development and quality of life. A hearing loss diagnosis is usually followed by a search for an underlying aetiology. Congenital hearing loss might be attributed to environmental and prenatal factors, which prevail in low-income settings; congenital infections, particularly cytomegalovirus, are also a common risk factor for hearing loss. Genetic causes probably account for the majority of cases in developed countries; mutations can affect any component of the hearing pathway, in particular inner ear homeostasis (endolymph production and maintenance) and mechano-electrical transduction (conversion of a mechanical stimulus into electrochemical activity). Once the underlying cause of hearing loss is established, it might direct therapeutic decision-making and guide prevention and (genetic) counseling. Management options include specific antimicrobial therapies, surgical treatment of cranio-facial abnormalities and hearing aids. An improved understanding of the pathophysiology and molecular mechanisms underlying hearing loss and increased awareness of recent advances in genetic testing will promote the development of new treatment and screening strategies.
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