Characterization of hearing-impairment in Generalized Arterial Calcification of Infancy (GACI).
Characterization of hearing-impairment in Generalized Arterial Calcification of Infancy (GACI).
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DOI：
10.1186/s13023-022-02410-w
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发表时间：
2022-07-19
影响因子：
3.7
通讯作者：
Ferreira, Carlos R.
中科院分区：
文献类型：
--
作者：
Theng, Elizabeth H.;Brewer, Carmen C.;Oheim, Ralf;Zalewski, Christopher K.;King, Kelly A.;Delsmann, Maximillian M.;Rolvien, Tim;Gafni, Rachel, I;Braddock, Demetrios T.;Kim, H. Jeffrey;Ferreira, Carlos R.
听力损失（HL）在婴儿泛发性动脉钙化（GACI）中有零星描述，但没有得到很好的表征，GACI是一种罕见的疾病，其中病理性钙化通常出现在婴儿期。本研究旨在描述GACI的临床听力学和耳病学特征以及听力损害的潜在病因，并从GACI的小鼠模型中获得病理生理学的见解。GACI患者的横断面队列研究。与野生型相比，ENPP 1asj/asj突变体的小鼠小骨微形态。临床研究医院;基础科学实验室。符合临床、生化和遗传诊断标准的19名GACI患者。与听力状态相关的临床、生化和放射学特征。纯音阈值可以建立在15（n = 30耳）的19例患者进行听力学评估。HL的患病率为50%（15/30），其中传导性HL为80%，感觉神经性HL为20%。在HL患者（n = 8）中，7例患者患有双侧HL，1例患者患有单侧HL。听力损失15耳中，轻中度听力损失占87%。在有足够纯音和中耳功能数据的患者中，80%（8/10）的听力配置提示听骨链功能障碍（OCD）。中耳炎（ROM）的复发需要放置压力平衡管是常见的。在头颅CT检查的患者中，54.5%（6/11）有耳廓钙化。定量背散射电子成像（qBEI）的小鼠听小骨支持在GACI的听觉功能障碍的强迫症组成部分，这表明没有启动骨重建听骨骨细胞的损失。听力损失在GACI中很常见;最常见的是传导性的，严重程度为轻度至中度。HL的病因可能是多因素的，涉及听骨链功能障碍和/或复发性中耳炎。在临床上，这项研究强调了早期听力学和耳科评估GACI的人的重要性。强迫症和ROM发生率高的新发现可能有助于治疗，在HL病因不明的情况下，应考虑进行专门的颞骨成像。在线版本包含补充材料，可通过10.1186/s13023-022-02410-w获得。
Hearing loss (HL) has been sporadically described, but not well characterized, in Generalized Arterial Calcification of Infancy (GACI), a rare disease in which pathological calcification typically presents in infancy. This study aims to describe the clinical audiologic and otologic features and potential etiology of hearing impairment in GACI and gain pathophysiological insight from a murine model of GACI. Cross-sectional cohort study of individuals with GACI. Murine ossicle micromorphology of the ENPP1asj/asj mutant compared to wild-type. Clinical research hospital; basic science laboratory. Nineteen individuals with GACI who met clinical, biochemical, and genetic criteria for diagnosis. Clinical, biochemical, and radiologic features associated with hearing status. Pure-tone thresholds could be established in 15 (n = 30 ears) of the 19 patients who underwent audiological assessments. The prevalence of HL was 50% (15/30) of ears, with conductive HL in 80% and sensorineural HL in 20%. In terms of patients with HL (n = 8), seven patients had bilateral HL and one patient had unilateral HL. Degree of HL was mild to moderate for 87% of the 15 ears with hearing loss. Of those patients with sufficient pure-tone and middle ear function data, 80% (8/10) had audiometric configurations suggestive of ossicular chain dysfunction (OCD). Recurrent episodes of otitis media (ROM) requiring pressure-equalizing tube placement were common. In patients who underwent cranial CT, 54.5% (6/11) had auricular calcification. Quantitative backscattered electron imaging (qBEI) of murine ossicles supports an OCD component of auditory dysfunction in GACI, suggesting loss of ossicular osteocytes without initiation of bone remodeling. Hearing loss is common in GACI; it is most often conductive, and mild to moderate in severity. The etiology of HL is likely multifactorial, involving dysfunction of the ossicular chain and/or recurrent otitis media. Clinically, this study highlights the importance of early audiologic and otologic evaluation in persons with GACI. Novel findings of high rates of OCD and ROM may inform management, and in cases of unclear HL etiology, dedicated temporal bone imaging should be considered. The online version contains supplementary material available at 10.1186/s13023-022-02410-w.
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影响因子：
1.2
作者：
Cingolani, Pablo;Platts, Adrian;Ruden, Douglas M.
通讯作者：
Ruden, Douglas M.
ENPP1ASJ突变小鼠的异位矿化和导电性听力损失，这是一种新的耳炎培养基和鼓膜硬化模型。
影响因子：
3.7
作者：
Tian C;Harris BS;Johnson KR
通讯作者：
Johnson KR
影响因子：
9.8
作者：
Lorenz-Depiereux, Bettina;Schnabel, Dirk;Strom, Tim M.
通讯作者：
Strom, Tim M.
影响因子：
1.4
作者：
MEISTER, M;JOHNSON, A;WHYTE, MP
通讯作者：
WHYTE, MP
影响因子：
6.2
作者：
Roschger, P.;Lombardi, A.;Klaushofer, K.
通讯作者：
Klaushofer, K.