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新生儿听力筛查——波兰经验:一篇叙述性综述

Newborn Hearing Screening-Polish Experience: A Narrative Review.

作者信息

Szyfter Krzysztof, Gawęcki Wojciech, Szyfter Witold

机构信息

Institute of Human Genetics, Polish Academy of Sciences, 60-479 Poznan, Poland.

Department of Otolaryngology and Laryngological Oncology, Poznan University of Medical Sciences, 60-355 Poznan, Poland.

出版信息

J Clin Med. 2025 Apr 17;14(8):2789. doi: 10.3390/jcm14082789.

DOI:10.3390/jcm14082789
PMID:40283619
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12027484/
Abstract

The Universal Neonatal Hearing Screening (UNHS) program is crucial for the early detection and treatment of hearing impairment in newborns. Poland has successfully implemented a nationwide UNHS program, adhering to international standards. Research indicates that hearing loss affects approximately 2-4 per 1000 infants, with sensorineural hearing loss being the most prevalent. Major risk factors include genetic alterations, craniofacial anomalies, prematurity, hyperbilirubinemia, and congenital infections such as cytomegalovirus. Despite the program's success, challenges related to limited parental awareness and disparities in access highlight the need for continuous improvement in screening and follow-up procedures. Additionally, gene therapy is emerging as a promising treatment for hearing loss. While still experimental, gene therapy could become a key complementary treatment option in the future, offering new hope for those with hearing impairments.

摘要

新生儿听力普遍筛查(UNHS)项目对于新生儿听力障碍的早期发现和治疗至关重要。波兰已成功实施了一项符合国际标准的全国性UNHS项目。研究表明,每1000名婴儿中约有2 - 4名受听力损失影响,其中感音神经性听力损失最为常见。主要风险因素包括基因改变、颅面畸形、早产、高胆红素血症以及先天性感染,如巨细胞病毒感染。尽管该项目取得了成功,但与家长意识有限和获取机会不平等相关的挑战凸显了筛查和后续程序持续改进的必要性。此外,基因治疗正在成为一种有前景的听力损失治疗方法。虽然仍处于实验阶段,但基因治疗未来可能成为关键的辅助治疗选择,为听力障碍患者带来新的希望。

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本文引用的文献

1
Assessment of Aminoglycoside-Induced Hearing Loss Risk in the Perinatal Period.围产期氨基糖苷类药物所致听力损失风险评估
Am J Perinatol. 2025 Jan;42(1):126-129. doi: 10.1055/s-0044-1788335. Epub 2024 Jul 15.
2
Pharmacogenetics of aminoglycoside-related ototoxicity: a systematic review.氨基糖苷类药物相关性耳毒性的遗传药理学:系统评价。
J Antimicrob Chemother. 2024 Jul 1;79(7):1508-1528. doi: 10.1093/jac/dkae106.
3
Gene therapy for deafness: are we there now?耳聋的基因治疗:我们现在做到了吗?
EMBO Mol Med. 2024 Apr;16(4):675-677. doi: 10.1038/s44321-024-00058-6. Epub 2024 Mar 25.
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Ototoxic and nephrotoxic drugs in neonatal intensive care units: results of a Spanish and Italian survey.新生儿重症监护病房中的耳毒性和肾毒性药物:一项西班牙和意大利的调查结果。
Eur J Pediatr. 2024 Jun;183(6):2625-2636. doi: 10.1007/s00431-024-05467-w. Epub 2024 Mar 16.
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Late-onset, progressive sensorineural hearing loss in the paediatric population: a systematic review.儿童迟发性进行性感觉神经性听力损失:系统评价。
Eur Arch Otorhinolaryngol. 2024 Jul;281(7):3397-3421. doi: 10.1007/s00405-024-08527-x. Epub 2024 Feb 27.
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Leading Risk Factors for Congenital Deafness in the Context of Universal Neonatal Screening: Our Observations in a Four-Year Retrospective Study.普遍新生儿筛查背景下先天性耳聋的主要危险因素:我们在一项四年回顾性研究中的观察结果
Int J Neonatal Screen. 2024 Jan 30;10(1):11. doi: 10.3390/ijns10010011.
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CMV-induced Hearing Loss.巨细胞病毒引起的听力损失。
Newborn (Clarksville). 2023 Oct-Dec;2(4):249-262. doi: 10.5005/jp-journals-11002-0081. Epub 2024 Jan 5.
8
Carrier frequencies, trends, and geographical distribution of hearing loss variants in China: The pooled analysis of 2,161,984 newborns.中国听力损失变异的携带频率、趋势及地理分布:对2161984例新生儿的汇总分析
Heliyon. 2024 Jan 28;10(3):e24850. doi: 10.1016/j.heliyon.2024.e24850. eCollection 2024 Feb 15.
9
Universal newborn hearing screening program in Saudi Arabia: Current insight.沙特阿拉伯的新生儿听力普遍筛查项目:当前见解。
J Otol. 2024 Jan;19(1):35-39. doi: 10.1016/j.joto.2024.01.002. Epub 2024 Jan 2.
10
AAV1-hOTOF gene therapy for autosomal recessive deafness 9: a single-arm trial.AAV1-hOTOF 基因治疗常染色体隐性遗传性耳聋 9 型:一项单臂试验。
Lancet. 2024 May 25;403(10441):2317-2325. doi: 10.1016/S0140-6736(23)02874-X. Epub 2024 Jan 24.