Department of Otorhinolaryngology, UC Christus Health Center, Pontificia Universidad Católica de Chile, Chile.
Department of Pediatric Endocrinology, UC Christus Health Center, Pontificia Universidad Católica de Chile, Chile.
Rev Med Chil. 2020 Dec;148(12):1781-1786. doi: 10.4067/S0034-98872020001201781.
Osteogenesis imperfecta (OI) is a rare group of genetic disorders affecting connective tissue, with consequent bone fragility, frequent fractures and skeletal deformity. Depending on the type, patients can have blue sclera, dentinogenesis imperfecta, and hearing loss.
To determine the frequency, type and audiometric characteristics of hearing loss in a group of patients with OI.
A prospective cohort study was completed. A clinical and diagnostic hearing evaluation with tympanometry, acoustic stapedial reflex, pure-tone and speech audiometry were performed.
Thirty patients completed the study; mean age of 22 years (range 6-63 years). Sixty seven percent had a type I OI. Overall, nine (30%) patients had hearing loss (15/60 ears). Of these, six had bilateral hearing loss. Of the 15 affected ears, six showed conductive hearing loss, five sensorineural hearing loss, and four mixed hearing loss. Patients with hearing loss were older than patients with normal hearing. Only one pediatric patient developed hearing loss. Of the ears without hearing loss, 13% did not have an acoustic stapedial reflex.
In this group of patients with OI, 30% had hearing loss and among those ears with normal hearing, 13% did not have an acoustic stapedial reflex. Patients with OI should be monitored for hearing loss.
成骨不全症（OI）是一组罕见的影响结缔组织的遗传疾病，导致骨骼脆弱、频繁骨折和骨骼畸形。根据类型的不同，患者可能有蓝巩膜、牙本质发育不全和听力损失。
确定一组 OI 患者听力损失的频率、类型和听力特征。
进行了一项前瞻性队列研究。对患者进行了临床和诊断性听力评估，包括鼓室图、声顺反射、纯音和言语测听。
30 名患者完成了研究；平均年龄 22 岁（范围 6-63 岁）。67%为 I 型 OI。总体而言，9 名（30%）患者有听力损失（60 耳中有 15 耳）。其中，6 名患者双侧听力损失。在受影响的 15 只耳朵中，6 只表现为传导性听力损失，5 只表现为感音神经性听力损失，4 只表现为混合性听力损失。有听力损失的患者比听力正常的患者年龄大。只有一名儿科患者出现听力损失。在没有听力损失的耳朵中，13%没有声顺反射。
在这组 OI 患者中，30%有听力损失，在听力正常的耳朵中，13%没有声顺反射。OI 患者应监测听力损失。
