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家族性淀粉样变性性多发性神经病(FAP)是由于全身淀粉样物质沉积引起的一种常染色体显性遗传病,FAP分布于世界各地,依其临床表现分为四型,1型最常见,以早期累及下肢并且明显重于上肢的进行性感觉运动性多发性神经病为特征。自主神经功能不全包括体位性低血压、阳萎、尿潴留等,胃肠道运动障碍也是FAP的主要临床表现之一。生化研究业已证实日本人FAP(J—FAP)Ⅰ型患者其淀粉样纤维部分是由TTR组成,在座位30处发生甲硫氨酸取代缬氨酸的一个氨基酸取代现象。同样的突变也见于瑞典人FAP(S—FAP)患者。变异型TTR(vTTR)与正常TTR(nTTR)共存于血清中,
Familial amyloidosis polyneuropathy (FAP) is an autosomal dominant genetic disease caused by systemic amyloid deposition. FAP is distributed throughout the world and is classified into four types according to clinical manifestations. FAP is the most common type 1, It is characterized by progressive sensory and motor polyneuropathy that affects lower limbs early and is significantly heavier than upper limbs. Autonomic nerve dysfunction, including orthostatic hypotension, impotence, urinary retention, gastrointestinal motility disorder is also one of the main clinical manifestations of FAP. Biochemical studies have confirmed that in Japanese FAP (J-FAP) type I patients, the amyloid-fiber fraction is composed of TTR and an amino acid substitution of methionine for valine occurs at position 30. The same mutation is also seen in Swedish FAP (S-FAP) patients. Mutant TTR (vTTR) and normal TTR (nTTR) co-exist in the serum,