CADASIL病皮肤活检超微病理技术和诊断  

Ultrastructural pathological technique and diagnosis of skin biopsy in CADASIL

作　　者：尹自长 侯晓涛 YIN Zi-chang;HOU Xiao-tao(Guangzhou KingMed laboratory center,Department of Pathology,Guangzhou Guangdong 510330,China)

机构地区：[1]广州金域医学检验中心病理室,广东广州510330

出　　处：《电子显微学报》2022年第3期272-277,共6页Journal of Chinese Electron Microscopy Society

摘　　要：目的:电镜检查15例伴皮层下梗死和白质脑病的常染色体显性遗传性脑动脉病(CADASIL)皮肤活检血管超微结构,分析嗜锇物质(GOM)沉积的部位、形态和电子密度特征,为临床提供超微病理诊断依据。方法:对15例经临床和基因确诊CADASIL病的皮肤活检电镜标本,在透射电镜下仔细观察皮肤血管组织的超微病理特点,并对CADASIL病的临床表现、影像学、超微病理学及分子生物学进行分析。结果:15例CADASIL病皮肤血管超微结构表现相对一致,均在小动脉内观察到GOM,主要沉积在小动脉平滑肌细胞表面基膜凹陷处及基膜间,偶见于内皮细胞下和胶原纤维基质间;而小静脉和毛细血管均未见GOM沉积。结论:CADASIL病的皮肤电镜超微病理特点为小动脉血管平滑肌细胞表面与基膜间特征的GOM沉积,特异性高。皮肤活检病理检查和超微病理观察是诊断CADASIL病的重要手段之一。Objective:15 cases of autosomal dominant cerebral artery disease(CADASIL) with subcortical infarction and leukoencephalopathy were examined by electron microscopy. Objective to analyze the location, morphology and electron density characteristics of osmiophilic substance(GOM) deposition, and to provide the basis for clinicopathological diagnosis. Method:Objective to analyze the skin biopsy specimens of 15 patients with CADASIL diagnosed clinically and genetically. The ultramicro-pathological features of the vascular tissue of the skin were carefully observed under transmission electron microscope. Objective to discuss the clinical manifestations, imaging, ultrastructural pathology and molecular biology of CADASIL. Result:The ultrastructural features of skin vessels in 15 cases of CADASIL were relatively consistent. GOM was observed in the arterioles, mainly in the depression of basement membrane on the surface of smooth muscle cells and between the basement membrane, occasionally under the endothelial cells and between the collagen fiber matrix;No GOM deposition was found in venules and capillaries. Conclusion:The ultrastructural pathological features of CADASIL are the deposition of GOM on the surface of smooth muscle cells and basement membrane of arterioles. Skin biopsy pathology and ultramicro-pathological observation are among the most important tools for the diagnosis of CADASIL disease.

关 键 词：伴皮层下梗死和白质脑病的常染色体显性遗传性脑动脉病(CADASIL) 电镜技术 皮肤活检 嗜锇物质(GOM) 

分 类 号：R743.3[医药卫生—神经病学与精神病学] R445.2[医药卫生—临床医学] Q336[生物学—遗传学]