家族性淀粉样变性周围神经病一尸检病例的病理研究  

Histopathological features of familial amyloidotic polyneuropathy： a report of a case with postmortem examination

作　　者：刘晶瑶[1] 郭颖杰[3] 邢英琦[2] 江新梅[2] 

机构地区：[1]吉林大学白求恩第一医院二部神经内科,长春130031 [2]吉林大学白求恩第一医院神经内科,长春130021 [3]吉林大学生命科学学院,长春130012

出　　处：《中华神经医学杂志》2012年第9期939-942,共4页Chinese Journal of Neuromedicine

摘　　要：目的通过对一例家族性淀粉样变性周围神经病（FAP）中国家系的先证者进行解剖检查及外周血标本的DNA基因测序，总结分析先证者的临床特征，为加强对该病的了解提供参考。方法应用HE染色、刚果红染色、甲苯胺蓝染色后光镜下观察淀粉样物质沉积情况；同时行免疫病理方法偏振光显微镜下观察。结果本例先证者为TTRVal30AlaFAP型。先证者的周围神经、肝脏、睾丸、甲状腺、胰腺和肌肉中可见大量淀粉样物质沉积。脾脏改变轻微。中枢神经系统脑实质及脊髓内均无淀粉样物质沉积。结论研究结果显示国人TTR Val30AlaFAP病理变化特点与经典TTR Val30MetFAP有所不同。Objective To analyze and conclude the clinical and histopathological features of a proband with familial amyloidotic polyneuropathy （FAP） by postmortem examination and gene sequencing of DNA from peripheral blood to provide reference in fiarther understanding the disease. Methods Morphological study was constructed by hematoxylin and eosin （HE） staining, congo red staining and birefringence with thioflavin under microscope, and by immunolabeling with polyclonal rabbit antibodies to transthyretin under polarized microscope. Results Genetic findings of transthyretin （TTR） gene revealed a T to C transition in codon 30 causing the mutation TTR Ala30; this proband belonged TTR Val30Met FAP type. Autopsy showed heavy amyloid deposition in the peripheral nerves, liver, testes, thyroid, pancreas and muscles. The spleen showed only slight deposition, and none was observed in the central nervous system. Conclusion Distinction is noted on pathological changes of Chinese FAP patient with TTR Va130Ala and other FAP patient with typical TTR Va130Met.

关 键 词：周围神经病 淀粉样变性 家族性 转甲状腺素蛋白 尸检 

分 类 号：R745[医药卫生—神经病学与精神病学]