Hearing loss in individuals with osteogenesis imperfecta in North America: Results from a multicenter study
Hearing loss in individuals with osteogenesis imperfecta in North America: Results from a multicenter study
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DOI：
10.1002/ajmg.a.61464
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发表时间：
2019-12-26
影响因子：
2
通讯作者：
Rauch, Frank
中科院分区：
文献类型：
--
作者：
Machol, Keren;Hadley, Trevor D.;Rauch, Frank
听力损失（HL）是结缔组织疾病骨生成障碍（OI）的骨骼外表现。系统评价COL 1A 1/COL 1A 2相关OI中HL的患病率和特征将有助于更好地对OI患者进行临床管理。我们收集并分析了312名OI患者的纯音测听数据，这些患者都参加了相关临床研究中心和脆性骨病联盟。报告了COL 1A 1/COL 1A 2相关OI中HL的患病率、类型和严重程度。我们表明，OI中HL的患病率为28%，并且在I型OI中随着年龄的增长而增加，但在III型和IV型中则不然。与I型OI相比，III型和IV型OI个体在生命的前十年内发生HL的风险更高。我们还表明，SNHL的患病率是更高的女性与OI相比，男性。这项研究揭示了关于OI中HL患病率的新见解，包括COL 1A 1/COL 1A 2相关OI中HL的总体患病率低于既往报告（28.3% vs. 65%），女性SNHL的患病率较高。我们的数据支持需要在早期常规听力评估的所有类型的OI，可以调整到骨骼疾病的严重程度。
Hearing loss (HL) is an extra-skeletal manifestation of the connective tissue disorder osteogenesis imperfecta (OI). Systematic evaluation of the prevalence and characteristics of HL in COL1A1/COL1A2-related OI will contribute to a better clinical management of individuals with OI. We collected and analyzed pure-tone audiometry data from 312 individuals with OI who were enrolled in the Linked Clinical Research Centers and the Brittle Bone Disorders Consortium. The prevalence, type, and severity of HL in COL1A1/COL1A2-related OI are reported. We show that the prevalence of HL in OI is 28% and increased with age in Type I OI but not in Types III and IV. Individuals with OI Types III and IV are at a higher risk to develop HL in the first decade of life when compared to OI Type I. We also show that the prevalence of SNHL is higher in females with OI compared to males. This study reveals new insights regarding prevalence of HL in OI including a lower general prevalence of HL in COL1A1/COL1A2-related OI than previously reported (28.3 vs. 65%) and high prevalence of SNHL in females. Our data support the need in early routine hearing evaluation in all types of OI that can be adjusted to the severity of the skeletal disease.