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目的 对我国首次报道的家族性淀粉样多发性神经病 (FAP)家系进行各项研究 ,以期发现其真正类型。方法 对我国东北某地一家系 6 7人共 16例多发性周围神经病患者进行详尽的临床检查 ,对其中 2例患者进行腓肠神经病理检查 ,和转甲蛋白 (TTR)基因的聚合酶链反应 (PCR)基因扩增及直接法测序分析。结果 临床上该家系所有患者均以植物神经症状 ,如排尿障碍、胃肠道症状、阳痿为首发症状。体格检查提示为严重的感觉运动神经病、体位性低血压和消瘦。病理学检查发现 2例患者均有刚果红染色阳性的大量淀粉样物沉积于神经束间质及神经内膜中。免疫组化证实淀粉样物与TTR有关。PCR扩增产物酶解及直接法测序 ,确定异常TTR为基因点突变所致 ,突变位置为日本及葡萄牙型FAP常见的第二个外显子第 30个密码子G由A取代。结论 本研究结果证实 ,该家系为Met3 0 FAP ,填补了我国对该疾病研究的空白
OBJECTIVE: To carry out various studies on the first reported familial amyloid polyneuropathy (FAP) pedigrees in China with a view to discovering its true type. Methods A total of 16 patients with multiple peripheral neuropathy in a pedigree of a certain locality in northeastern China were investigated in detail. Two of them were examined by sural neuropathological examination and the polymerase chain reaction of TTR gene (PCR) gene amplification and direct sequencing analysis. Results All patients in this pediatric family had autonomic symptoms such as voiding dysfunction, gastrointestinal symptoms and impotence as the first symptom. Physical examination suggests severe motor neuropathy, orthostatic hypotension and weight loss. Pathological examination revealed that a large number of Congo red staining positive amyloid deposits were found in the interstitial and neuroendocrine tissues of both patients. Immunohistochemistry confirmed that amyloid was associated with TTR. The PCR products were digested by enzyme and sequenced directly to determine the abnormal TTR gene mutation. The mutation site was replaced by A at the 30th codon G of the second exon of Japanese and Portuguese FAP. Conclusion The results of this study confirm that the pedigree is Met3 0 FAP, which fills the gap in our research on this disease