Department of Endocrinology, Bone and Mineral Unit, Odense University Hospital, Kløvervænget 6, 5 Floor, 5000, Odense C, Denmark.
Department of ORL-Head and Neck Surgery and Audiology, Odense University Hospital, Odense, Denmark.
Calcif Tissue Int. 2024 Sep;115(3):260-268. doi: 10.1007/s00223-024-01253-w. Epub 2024 Jul 16.
Osteogenesis imperfecta (OI) is a group of rare hereditary collagen disorders. Hearing loss (HL) is a known complication linked to changes in the bones of the middle ear seen in OI. We aimed to determine the prevalence, age at debut, incidence, and risk of HL, surgery on bones of the middle ear, and use of hearing aids. A Danish nationwide, register-based cohort study. Data were extracted from the Danish National Patient register. Anyone with an OI diagnosis between January 1st 1977 and December 31st 2018, matched 1:5 with a reference population (Ref.Pop) on birthyear and sex, were included. 864 persons (487 women) with OI were included in the study and 4276 (2330 women) in the Ref.Pop. The sub-hazard ratio (SHR) for any HL was 4.56 [95% CI 3.64-5.71], with a prevalence of 17.0% and 4.0% in the OI cohort and Ref.Pop. Median age at debut was 42 and 58 years, respectively. The risk of otosclerosis and/or surgery was higher in the OI cohort (SHR 22.51 [95% CI 12.62-40.14]), with a median age at debut of 43 and 32 years in the OI cohort and Ref.Pop, respectively. Hearing aid use was more frequent in the OI cohort (SHR 4.16 [95% CI 3.21-5.40]) than in the Ref.Pop. The median age at debut was 45 and 60 years in the OI cohort and Ref.Pop, respectively. Persons with OI have a higher risk and prevalence of HL, hearing aids, and surgery, debuting younger, and prevalence increases with age.
成骨不全症（OI）是一组罕见的遗传性胶原疾病。听力损失（HL）是一种已知的并发症，与 OI 中中耳骨骼的变化有关。我们旨在确定 HL、中耳骨骼手术和助听器使用的患病率、首次发病年龄、发病率和风险。一项丹麦全国范围内基于登记的队列研究。数据从丹麦国家患者登记处提取。任何在 1977 年 1 月 1 日至 2018 年 12 月 31 日期间患有 OI 诊断的人，按出生年份和性别与参考人群（Ref.Pop）匹配 1:5，均被纳入研究。研究包括 864 名（487 名女性）OI 患者和 4276 名（2330 名女性）Ref.Pop。任何 HL 的亚危险比（SHR）为 4.56 [95%CI 3.64-5.71]，OI 队列和 Ref.Pop 的患病率分别为 17.0%和 4.0%。首次发病年龄的中位数分别为 42 岁和 58 岁。OI 队列的耳硬化症和/或手术风险更高（SHR 22.51 [95%CI 12.62-40.14]），首次发病年龄的中位数分别为 43 岁和 32 岁。OI 队列的助听器使用率高于 Ref.Pop（SHR 4.16 [95%CI 3.21-5.40]）。OI 队列和 Ref.Pop 的首次发病年龄的中位数分别为 45 岁和 60 岁。OI 患者的 HL、助听器和手术的风险和患病率更高，首次发病年龄更早，患病率随年龄增长而增加。
