Polyakov D P, Daikhes N A, Bazanova M V, Melyanovskaya Yu L
National Medical Research Center for Otorhinolaryngology, Moscow, Russia.
Pirogov Russian National Research Medical University, Moscow, Russia.
Vestn Otorinolaringol. 2024;89(3):29-35. doi: 10.17116/otorino20248903129.
Cystic fibrosis (CF) is a severe hereditary disease with a multisystem lesion. Manifestations of CF include severe infectious purulent lesions of all parts of the respiratory tract, including purulent rhinosinusitis with nasal polyps. The involvement of the sinonasal region and the need for systemic use of ototoxic drugs (primarily aminoglycosides to treat resistant bacterial infection) potentially create a risk of both conductive and sensorineural hearing loss (SNHL). The available data on the epidemiology of hearing disorders in CF is contradictory. Currently, genetic determinants of the development of aminoglycoside SNHL have been identified.
For 136 CF patients (75 girls, 61 boys) aged 3 to 17 (9.4±3.9) years were performed audiological examination: tympanometry, transient-evoked otoacoustic emission and the pure tone threshold audiometry (standard frequency range) (=126). History of systemic therapy with aminoglycosides was evaluated for each patient. Sequencing of c.35delG mutations in the gene (nuclear DNA) and A1555G in the gene (mitochondrial DNA) was performed in 215 patients with cystic fibrosis (the group partially overlaps with the audiological group), and as a control - 106 children with bronchial asthma and 103 healthy children, their age ranged from 3 to 17 (8.8±3.8) years.
Audiological examination of CF children reveled a prevalence of conductive hearing loss comparable to the general population (2.4%). The frequency of SNHL was 1.6%, wich exceeds that of non-CF children. A genetic study revealed one case of heterozygous carriage of the c.35delG mutation in the gene in a patient with bronchial asthma. In the group of patients with CF (=215), mutations in the connexin 26 gene were not detected. No A1555G mutation was detected either in the group of patients with CF or in the control groups.
Children with CF are at risk for the development of sensorineural, but not conductive hearing loss. Routine total screening for A1555G and c.35delG mutations probably seems not to be recommended.
囊性纤维化（CF）是一种伴有多系统损害的严重遗传性疾病。CF的表现包括呼吸道各部位的严重感染性化脓性病变，包括伴有鼻息肉的化脓性鼻窦炎。鼻窦区域受累以及全身使用耳毒性药物（主要是氨基糖苷类药物治疗耐药细菌感染）的必要性可能会导致传导性和感音神经性听力损失（SNHL）的风险。关于CF听力障碍流行病学的现有数据相互矛盾。目前，已确定了氨基糖苷类SNHL发生发展的遗传决定因素。
对136例年龄在3至17岁（9.4±3.9岁）的CF患者（75名女孩，61名男孩）进行了听力学检查：鼓室图、瞬态诱发耳声发射和纯音阈值听力测定（标准频率范围）（=126）。评估了每位患者全身使用氨基糖苷类药物的治疗史。对215例囊性纤维化患者（该组与听力学组部分重叠）以及作为对照的106例支气管哮喘儿童和103例健康儿童进行了基因（核DNA）中c.35delG突变和基因（线粒体DNA）中A1555G突变的测序，他们的年龄在3至17岁（8.8±3.8岁）之间。
对CF儿童的听力学检查显示，传导性听力损失的患病率与普通人群相当（2.4%）。SNHL的发生率为1.6%，超过了非CF儿童。一项基因研究在一名支气管哮喘患者中发现了1例基因中c.35delG突变的杂合携带者。在CF患者组（=215）中，未检测到连接蛋白26基因的突变。在CF患者组或对照组中均未检测到A1555G突变。
CF儿童有发生感音神经性听力损失的风险，但没有传导性听力损失的风险。可能不建议常规对A1555G和c.35delG突变进行全面筛查。
