诊断和治疗的挑战 症状前遗传性转基因氨基粉症
相关实验视频
Updated: Jan 11, 2026

06:33
Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
8.1K
A Echaniz-Laguna1, V Algalarrondo2
1Neurology Department, CHU de Bicêtre, AP-HP, 94275 Le Kremlin-Bicêtre, France; French National Reference Center for Rare Neuropathies (CERAMIC), 94275 Le Kremlin-Bicêtre, France; Inserm U1195, Paris-Saclay University, 94276 Le Kremlin-Bicêtre, France.
Revue neurologique
|November 14, 2025
概括
遗传性转基因氨基粉症 (ATTRv) 是一种罕见的遗传性疾病. 新的治疗方法提供了希望,早期识别亲属可以进行主动监测和潜在的预防性治疗.
科学领域:
- 遗传学 是一个遗传学.
- 神经学 神经学
- 药理学 药理学 是一个学科.
背景情况:
- 遗传性转基因氨基粉症 (ATTRv) 是一种罕见的,致命的,自体主导性成人发病的遗传性疾病,由TTR基因突变引起.
- 从历史上看,有限的治疗选择包括肝移植和TTR稳定剂.
- 新兴的反感性寡核酸 (ASO) 和小干扰RNA (siRNA) 治疗方法显著改善了神经学的结果.
研究的目的:
- 审查ATTRv管理的现状.
- 讨论预症状患者的鉴定和监测.
- 探索未来的挑战和潜在的干预措施.
主要方法:
- 关于ATTRv治疗和诊断的最新进展的文献综述.
- 对监测预症状ATTRv患者的指导方针的分析.
- 讨论新出现的生物标志物和预防策略.
主要成果:
- ASO和siRNA疗法在ATTRv.中大大改善了神经学的结果.
- 越来越多地发现了症状前的亲属,需要监测指南.
- 亚临床异常往往先于可检测的粉样蛋白沉积物,使疾病阶段复杂化.
结论:
- 目前的治疗方法为ATTRv患者提供了改善的结果.
- 在预症状和症状阶段之间清晰划分是具有挑战性的.
- 像神经纤维光链 (NfL) 和预防性治疗等生物标志物对于未来的管理至关重要.
关键词:
氨基粉症是什么?心肌病是一种心肌病.神经纤维纤维是一种神经纤维.多性神经病变 (Polyneuropathy) 是一种多性神经病变.预防 预防 预防这种基因是TTR基因.转二烯素是一种转二烯素.更多相关视频
相关概念视频
Atherosclerosis II: Clinical Manifestations and Diagnostic Tests
450
Atherosclerosis is a progressive disorder that leads to the thickening and narrowing of arterial walls due to plaque buildup. This condition can cause various symptoms depending on the arteries affected:Coronary Artery Disease (CAD): This condition affects the coronary arteries and may lead to chest pain (angina), shortness of breath (dyspnea), heart attacks, and other heart disease symptoms.Cerebrovascular Disease: This affects blood flow to the brain, causing transient ischemic attacks (TIAs)...
450
Amyloid Fibrils
11.5K
Amyloid fibrils are aggregates of misfolded proteins. Under most circumstances, misfolded proteins are either refolded by chaperone proteins or degraded by the proteasome. However, in the case of a mutation or a disease, these proteins can accumulate to form large clusters and often further assemble to form elongated fibers, called fibrils.
Amyloid deposits were observed as early as 1639 in the liver and the spleen. In 1854, Rudolph Virchow performed iodine staining,...
Amyloid deposits were observed as early as 1639 in the liver and the spleen. In 1854, Rudolph Virchow performed iodine staining,...
11.5K
Cardiomyopathy III: Hypertrophic Cardiomyopathy
380
Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
380
Alzheimer's Disease: Treatment
782
Alzheimer's Disease (AD), a neurodegenerative disorder, is pathologically identified by amyloid plaques and neurofibrillary tangles composed of tau protein. AD pharmacotherapy aims to manage cognitive symptoms, delay disease progression, and treat behavioral symptoms. The treatment is primarily symptomatic and palliative, with no definitive disease-modifying therapy available. Cholinesterase inhibitors, including donepezil (Aricept), rivastigmine (Exelon), and galantamine (Razadyne), are...
782

