CAJ | 학술논문

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TTR Val30Ala FAP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 Val30Ala FAP病理变化特点与经典TTR Val30Met FAP有所不同.
목적 통과대일례가족성정분양변성주위신경병(FAP)중국가계적선증자진행해부검사급외주혈표본적DNA기인측서,총결분석선증자적림상특정,위가강대해병적료해제공삼고. 방법 응용HE염색、강과홍염색、갑분알람염색후광경하관찰정분양물질침적정황;동시행면역병리방법편진광현미경하관찰. 결과 본례선증자위TTR Val30Ala FAP형.선증자적주위신경、간장、고환、갑상선、이선화기육중가견대량정분양물질침적.비장개변경미.중추신경계통뇌실질급척수내균무정분양물질침적. 결론 연구결과현시국인TTR Val30Ala FAP병리변화특점여경전TTR Val30Met FAP유소불동.
Objective To analyze and conclude the clinlcal 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 further 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 Val30Ala and other FAP patient with typical TTR Val30Met.