FAMILIAL AMYLOID POLYNEUROPATHY──CLINICAL REPORT OF A FAMILY

This paper reports a familial amyloid polyneuropathy (FAP) family in China. This family being investigated had 69 members of five generations. From the third generation, there have been 16 patients. The age of onset was about 3 to 5 decades. The initial symptoms were autonomic nerve symptoms, such as impotence, dyspepsia and diarrhoea, associated with the sensory loss of lower extremities. As the disease progressed, the upper extremities and motor ability were also involved. The duration of disease course was about 8-10 years, most patients died of infection and cachexia. Sural biopsy in 3 patients had showed positive Congo red staining. From the clinical view, this FAP family is similar to FAP I found in Japan. The true classification, however, should be confirmed by further genetic analysis.

家族性淀粉样多发性神经病一家系病理及基因点突变

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 。