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目的:探讨转甲蛋白Glu54Lys突变引起的家族性淀粉样多发性神经病(FAP)的临床表现和神经病理特点。方法:分析1例Glu54Lys突变所致的FAP患者的临床及腓肠神经病理特点,并与文献所报道的5例病例进行比较分析。结果:转甲蛋白Glu54Lys突变引起的FAP患者起病年龄为26～33岁,病程3～4年进展,临床表现为多发性感觉运动周围神经病,尤以自主神经症状为突出表现。患者同时可伴有玻璃体混浊和心肌肥厚。结论:转甲蛋白Glu54Lys突变引起的FAP起病早,临床症状严重,预后较差。组织病理和基因检测有助于FAP的诊断。
Objective: To investigate the clinical manifestations and neuropathological features of familial amyloid polyneuropathy (FAP) caused by the mutation of transmembrane Glu54Lys. Methods: The clinical and sural neuropathological features of one case of FAP induced by Glu54Lys mutation were analyzed and compared with 5 cases reported in the literature. Results: The incidence of FAP in patients with FAP induced by the mutation of Glu54Lys transmembrane protein was 26-33 years old with a course of 3 to 4 years. The clinical manifestations were multiple perceptual motor peripheral neuropathy, especially autonomic symptoms. Patients may also be accompanied by vitreous opacity and cardiac hypertrophy. CONCLUSION: FAP induced by the mutation of transmembrane protein Glu54Lys has early onset, severe clinical symptoms and poor prognosis. Histopathology and genetic testing contribute to the diagnosis of FAP.