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目的报道家族性淀粉样变多发性神经性损害(familial amyloidotic polyneuropathy,FAP)患者腺体组织存在淀粉样小体,用于探讨淀粉样变形成机制。方法 1临床收集转甲状腺素蛋白(transthyretin,TTR)相关淀粉样变患者,利用免疫亲和-质量分析装置法(Matrix assisted laser desorption ionisation time-of-flight mass spectrometry,MALDI-TOF/MS)法测定TTR基因突变类型。2刚果红(Congo red,CR)染色结合偏振光显微镜检查鉴定心脏组织是否发生淀粉样变沉积。3免疫组织化学染色鉴定淀粉样变沉积蛋白类型。4对FAP患者腺体组织进行形态分析以确定淀粉样小体的存在。结果1MALDI-TOF/MS分析结果确定TTR基因突变类型为ATTRVal30Met。2患者心脏组织经CR染色结合偏振光显微镜观察,确定淀粉样变沉积阳性,且沉积于小血管壁和心肌组织间隙。3免疫组织化学染色结果可见TTR免疫反应阳性,提示淀粉样变沉积前蛋白为TTR。4对胰腺组织进行分析发现腺体腔内可见CR染色阳性和绿色荧光淀粉样小体,未见其与TTR抗体存在免疫原性反应。结论 FAP患者胰腺组织发现淀粉样小体,且未发现其与TTR抗体之间存在免疫原性反应。
Objective To report the presence of amyloid in the gland tissue of familial amyloidotic polyneuropathy (FAP) patients and to investigate the mechanism of amyloidosis. Method 1 The patients with amyloidosis associated with transthyretin (TTR) were collected clinically and analyzed by using Matrix assisted laser desorption ionisation time-of-flight mass spectrometry (MALDI-TOF / MS) TTR gene mutation type. 2 Congo red (CR) staining combined with polarized light microscopy to identify the occurrence of amyloidosis in cardiac tissue deposition. 3 immunohistochemistry to identify the type of amyloid deposition protein. 4 Morphological analysis of the glandular tissues of FAP patients to determine the presence of amyloid. Results The result of the 1 MALDI-TOF / MS analysis confirmed that the TTR gene mutation was ATTRVal30Met. 2 The heart tissue of patients was observed by CR staining combined with polarized light microscope to confirm the positive amyloid deposition and deposited in the space between the small blood vessel wall and myocardial tissue. 3 Immunohistochemical staining results showed positive TTR immune response, suggesting that pre-amyloid deposition protein TTR. 4 analysis of pancreatic tissue found in the gland cavity can be seen CR-positive and green fluorescent amyloid small body, no antibody and TTR immunogenic reaction. Conclusions Amyloid bodies were found in pancreatic tissues of FAP patients and no immunogenic reaction with TTR antibody was found.