先天性大疱性表皮松解症基底膜带分子的研究

Inherited epidermolysis bullosaa study on molecule in basement membrane zone

目的 : 通过透射电镜和免疫荧光研究先天性大疱性表皮松解症患者的基底膜带分子。方法 :分析 7个组织病理表现为表皮下疱的先天性大疱性表皮松解症患者的透射电镜和免疫荧光表现。结果 :电镜检查 1例为基底膜透明板裂隙 ,即JEB ,其余 6例为基底膜下裂隙 ,即DEB。间接免疫荧光检查此例JEB是BPAG2缺陷 ,结合临床资料诊断为泛发型萎缩性良性大疱性表皮松解症 (generalizedatrophicbenignEB ,GABEB) ,这是我国首例报告 ;6例DEB患者透射电镜和免疫荧光检查辅助诊断DDEB和RDEB。结论 : 先天性大疱性表皮松解症是一组疾病 ,电镜和免疫荧光检查对于分型和明确诊断是必需的 ,间接免疫荧光检查还可以指导进一步的基因诊断。

Objective:To study molecule in basement membrane by electron microscopy and indirect immunofluorescence in patients with inherited epidermolysis bullosa.Methods:Electron microscopy and indirect immunofluorescence were performed on skin samples from 7 patients with epidermolysis bullosa.Results:The result of electron microscopic examination:The fissure in lamina lucida was found in one patient,for whom the diagnosis of JEB was made. The fissures under lamina densa were observed in 6 patients diagnosed as DEB. Immunofluorescence showed the expression of BPAG2 were totally absent in the JEB patient. Combined with clinical manifestations,the diagnosis of GABEB was made. This was the first case found in China. The 6 DEB cases showed different degree of changes in the expression of type VII collagen in the electron microscopic exam and indirect immunofluorescence detection. This would help in differing DDEB from RDEB. Conclusion :Inherited epidermolysis bullosa is composed of a group of disorders. It is necessary to use electron microscopy and immunofluorescence test to classify subgroup of the disease and we recommend these two methods to be used in gene mutation detection. [