淀粉样变性，转甲状腺素蛋白相关
基因病名称(英)
Amyloidosis, transthyretin-related
别名(英)
Amyloidosis I,Amyloidosis Ohio type,Amyloidosis type 7,Amyloidosis VII,Amyloid polyneuropathy,ATTR,Familial amyloid polyneuropathy,Familial amyloid polyneuropathy type I,Familial amyloid polyneuropathy type II,FAP,Hereditary amyloidosis transthyretin-related,Leptomeningeal amyloidosis,Meningocerebrovascular amyloidosis,Oculoleptomeningeal amyloidosis,Transthyretin amyloid neuropathy,Transthyretin amyloidosis,Transthyretin amyloid polyneuropathy,TTR amyloid neuropathy
别名
淀粉样变性 I，俄亥俄型淀粉样变性，7 型淀粉样变性，7 型淀粉样变性，多发性神经病，ATTR，家族性淀粉样多发性神经病，I 型家族性淀粉样多发性神经病，II 型家族性淀粉样多发性神经病，FAP，遗传性淀粉样变性转甲状腺素相关，软脑膜淀粉样变性，脑膜脑血管淀粉样变性，眼脑膜淀粉样变性,转甲状腺素蛋白淀粉样神经病,转甲状腺素蛋白淀粉样变性,转甲状腺素蛋白淀粉样多发性神经病,TTR淀粉样神经病
统计
reviewed:1; annotated:0
交叉引用
105210,C0342609,C2751492,C3151470,C3151471,D028226
描述(英)
A hereditary generalized amyloidosis due to transthyretin amyloid deposition. Protein fibrils can form in different tissues leading to amyloid polyneuropathies, amyloidotic cardiomyopathy, carpal tunnel syndrome, systemic senile amyloidosis. The disease includes leptomeningeal amyloidosis that is characterized by primary involvement of the central nervous system. Neuropathologic examination shows amyloid in the walls of leptomeningeal vessels, in pia arachnoid, and subpial deposits. Some patients also develop vitreous amyloid deposition that leads to visual impairment (oculoleptomeningeal amyloidosis). Clinical features include seizures, stroke-like episodes, dementia, psychomotor deterioration, variable amyloid deposition in the vitreous humor.
描述
由转甲状腺素蛋白淀粉样蛋白沉积引起的遗传性全身性淀粉样变性病。蛋白质原纤维可在不同组织中形成，导致淀粉样多发性神经病、淀粉样变性心肌病、腕管综合征、系统性老年淀粉样变性。该疾病包括以中枢神经系统受累为特征的软脑膜淀粉样变性。神经病理学检查显示软脑膜血管壁、软脑膜蛛网膜和软脑膜下沉积物中有淀粉样蛋白。一些患者还会出现玻璃体淀粉样蛋白沉积，导致视力障碍（眼脑膜淀粉样变性）。临床特征包括癫痫发作、中风样发作、痴呆、精神运动性恶化、玻璃体液中可变的淀粉样蛋白沉积。