Extralabyrinthine manifestations of DFNA9.
Extralabyrinthine manifestations of DFNA9.
复制标题
DFNA9 的迷路外表现。
DOI：
10.1007/s10162-010-0245-0
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发表时间：
2011
期刊：
影响因子：
--
通讯作者：
Fayad,JoseN
中科院分区：
文献类型：
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作者：
McCall,AndrewA;LinthicumJr,FredH;O'Malley,JenniferT;Adams,JoeC;Merchant,SaumilN;Bassim,MarcK;Gellibolian,Robert;Fayad,JoseN
DFNA 9是一种常染色体显性遗传的非综合征型成人型感音神经性听力损失的病因，伴有COCH基因突变引起的相关可变前庭功能障碍。DFNA 9先前的特征在于存在限于耳蜗和前庭迷路的独特组织病理学特征。本报告描述了在DFNA 9中耳内新发现的外耳道发现，并讨论了其意义。回顾了7名DFNA 9患者的12块颞骨中的骨外结构的组织病理学解剖，并与年龄匹配的对照组进行了比较。所有具有DFNA 9的颞骨在鼓膜、砧锤关节和砧镫关节内有异常沉积。苏木素和伊红染色和Movat的五色染色都显示不同的染色模式相比，intralabetraine存款的abetraine存款，表明存款的组成随位置而变化。鼓膜内的沉积物在形态上类似于软骨，并且对聚集蛋白聚糖（软骨中发现的细胞外基质蛋白）染色呈阳性。然而，鼓膜沉积物的细胞成分未被软骨细胞的免疫标记物（s100和结缔组织生长因子）染色。DFNA 9中的这些新发现对该疾病的表型表达和成人发作感音神经性听力损失的临床检查具有意义。
DFNA9 is an autosomal dominant cause of non-syndromic adult-onset sensorineural hearing loss with associated variable vestibular dysfunction caused by mutations in the COCH gene. DFNA9 has previously been characterized by the presence of unique histopathologic features limited to the cochlear and vestibular labyrinth. This report describes newly discovered extralabyrinthine findings within the middle ear in DFNA9 and discusses their implications. The histopathologic anatomy of extralabyrinthine structures was reviewed in 12 temporal bones from seven individuals with DFNA9 and compared with age-matched controls. All temporal bones with DFNA9 had abnormal deposits within the tympanic membrane, incudomalleal joint, and incudostapedial joint. Hematoxylin and eosin stain and Movat’s pentachrome stain both revealed different staining patterns of the extralabyrinthine deposits compared with the intralabyrinthine deposits suggesting that the composition of the deposits varies with location. The deposits within the tympanic membrane resembled cartilage morphologically and stained positively for aggrecan, an extracellular matrix protein found in cartilage. However, the cellular component of the tympanic membrane deposits did not stain with immunomarkers for chondrocytes (s100 and connective tissue growth factor). These novel findings in DFNA9 have implications for the phenotypic expression of the disorder and the clinical workup of adult-onset sensorineural hearing loss.