Ungar Omer J, Nadol Joseph B, Santos Felipe
Departments of Otolaryngology Head and Neck Surgery and Maxillofacial Surgery , Tel-Aviv Sourasky Medical Center, Sackler School of Medicine Tel-Aviv University Tel-Aviv Israel.
Department of Otolaryngology Massachusetts Eye and Ear Infirmary Boston Massachusetts U.S.A.
Laryngoscope Investig Otolaryngol. 2018 Aug 9;3(4):311-314. doi: 10.1002/lio2.177. eCollection 2018 Aug.
To describe the histopathologic findings within the human cochlea in X-linked Alport syndrome.
Histopathologic analysis of cellular elements within the human cochlea by light microscopy.
A right and a left cochleae of a man with genetically confirmed X-linked Alport syndrome was studied post-mortem. The temporal bones underwent standard processing for histologic examination. The slides were examined by light microscopy. Graphic reconstruction of the cochlea was performed to quantify hair cells, pathologic changes of the stria vascularis, and loss of cochlear neuronal cells.
There was severe loss of inner hair cells and all three rows of outer hair cells in the apical two turns of the cochlea. The stria vascularis and spiral ligament showed areas of marked loss which became more prominent from base to apex in each ear. The spiral ganglion cell count in the Rosenthal's canal exhibited loss of 20% to 45% compared to matched historical controls. There was a zone of separation between the organ of Corti and the basilar membrane extending along the basal surface of Deiters cells, Hensen cells, Claudius cells and external sulcus cells. The tunnel of Corti and the space of Nuel were filled with cellular elements along the cochlea.
The histopathologic findings of cochlear involvement in Alport's syndrome are basement membrane separation from the cells of the organ of Corti, outer and inner hair cell loss, and cellular infilling of the tunnel and extracellular spaces of the organ of Corti. These observations contribute to our understanding of the mechanism of sensorineural hearing loss in these patients.
描述X连锁遗传性Alport综合征患者耳蜗的组织病理学表现。
通过光学显微镜对人耳蜗内的细胞成分进行组织病理学分析。
对一名经基因确诊为X连锁遗传性Alport综合征男性患者的左右耳蜗进行尸检研究。颞骨经过标准处理用于组织学检查。玻片通过光学显微镜检查。对耳蜗进行图形重建以量化毛细胞、血管纹的病理变化以及耳蜗神经元细胞的损失。
耳蜗顶部两圈的内毛细胞和所有三排外毛细胞严重缺失。血管纹和螺旋韧带显示出明显的缺失区域，且每只耳朵从基部到顶部这些区域变得更加明显。与匹配的历史对照相比，罗斯纳管内的螺旋神经节细胞计数显示损失了20%至45%。在柯蒂氏器和基底膜之间存在一个分离带，沿着代特氏细胞、亨森氏细胞、克劳迪氏细胞和外沟细胞的基底面延伸。柯蒂氏隧道和纽尔间隙沿耳蜗充满了细胞成分。
Alport综合征耳蜗受累的组织病理学表现为基底膜与柯蒂氏器细胞分离、外毛细胞和内毛细胞缺失以及柯蒂氏器隧道和细胞外间隙的细胞填充。这些观察结果有助于我们理解这些患者感音神经性听力损失的机制。
