PDF(Pubmed)
Abstract：
Amyloidoses represent a group of diseases characterized by the pathological accumulation in the extracellular area of insoluble misfolded protein material called \"amyloid\". The damage to the tissue organization and the direct toxicity of the amyloidogenic substrates induce progressive dysfunctions in the organs involved. They are usually multisystem diseases involving several vital organs, such as the peripheral nerves, heart, kidneys, gastrointestinal tract, liver, skin, and eyes. Transthyretin amyloidosis (ATTR) is related to abnormalities of transthyretin (TTR), a protein that acts as a transporter of thyroxine and retinol and is produced predominantly in the liver. ATTR is classified as hereditary (ATTRv) and wild type (ATTRwt). ATTRv is a severe systemic disease of adults caused by mutations in the TTR gene and transmitted in an autosomal dominant manner with incomplete penetrance. Some pathogenic variants in TTR are preferentially associated with a neurological phenotype (progressive peripheral sensorimotor polyneuropathy); others are more frequently associated with restrictive heart failure. However, many mutations express a mixed phenotype with neurological and cardiological involvement. ATTRv is now a treatable disease. A timely and definite diagnosis is essential in view of the availability of effective therapies that have revolutionized the management of affected patients. The purpose of this review is to familiarize the clinician with the disease and with the correct diagnostic pathways in order to obtain an early diagnosis and, consequently, the possibility of an adequate treatment.
摘要：
淀粉样蛋白症代表一组疾病，其特征在于不溶性错误折叠的蛋白质物质在细胞外区域的病理积累，称为“淀粉样蛋白”。对组织组织的损害和淀粉样底物的直接毒性在所涉及的器官中诱导进行性功能障碍。它们通常是涉及几个重要器官的多系统疾病，比如周围神经，心,肾脏，胃肠道,肝脏,皮肤,和眼睛。转甲状腺素蛋白淀粉样变性（ATTR）与转甲状腺素蛋白（TTR）异常有关，一种蛋白质，作为甲状腺素和视黄醇的转运蛋白，主要在肝脏中产生。ATTR分为遗传性(ATTRv)和野生型(ATTRwt)。ATTRv是由TTR基因突变引起的成人严重全身性疾病，以常染色体显性遗传方式传播，外显率不完全。TTR中的一些致病变异体优先与神经学表型(进行性周围感觉运动多神经病)相关;其他变异体更频繁地与限制性心力衰竭相关。然而,许多突变表现出神经和心脏受累的混合表型。ATTRv现在是一种可治疗的疾病。鉴于有效疗法的可用性已经彻底改变了受影响患者的管理，因此及时和明确的诊断至关重要。这篇综述的目的是使临床医生熟悉疾病和正确的诊断途径，以便获得早期诊断，因此,适当治疗的可能性。
