淀粉样变性 5
关键字(英)
Amyloidosis,Corneal dystrophy
别名(英)
AGel,Amyloid cranial neuropathy with lattice corneal dystrophy,Amyloidosis due to mutant gelsolin,Amyloidosis V,Familial amyloidosis Finnish type,Familial amyloid polyneuropathy type IV,Finnish type amyloidosis,Gelsolin amyloidosis,Lattice corneal dystrophy type II,Meretoja type amyloidosis
别名
AGel,淀粉样脑神经病伴格子状角膜营养不良,淀粉样变性由于突变凝溶胶蛋白,淀粉样变性V,家族性淀粉样变性芬兰型,家族性淀粉样多发性神经病IV型,芬兰型淀粉样变性,凝溶胶淀粉样变性,格状角膜营养不良II型,Meretoja型淀粉样变性
统计
reviewed:1; annotated:0
交叉引用
105120,C1622345,C1628319,C2751493,D028226
描述(英)
A hereditary generalized amyloidosis due to gelsolin amyloid deposition. It is typically characterized by cranial neuropathy and lattice corneal dystrophy. Most patients have modest involvement of internal organs, but severe systemic disease can develop in some individuals causing peripheral polyneuropathy, amyloid cardiomyopathy, and nephrotic syndrome leading to renal failure.
描述
由于凝溶胶蛋白淀粉样蛋白沉积引起的遗传性全身性淀粉样变性病。它的典型特征是颅神经病变和晶格状角膜营养不良。大多数患者的内脏器官受累有限，但一些个体可能会发展为严重的全身性疾病，导致外周多发性神经病、淀粉样蛋白心肌病和导致肾功能衰竭的肾病综合征。