转甲状腺素蛋白淀粉样变性中的血清生物标志物：神经丝、心脏、肾脏和胃肠道受累概述
Serum Biomarkers in Transthyretin Amyloidosis: An Overview of Neurofilaments, Cardiac, Renal, and Gastrointestinal Involvement.
作者信息
Guglielmino Valeria, Vitali Francesca, Romano Angela, Primiano Guido, Sciarrone Maria Ausilia, Luigetti Marco
机构信息
Department of Neuroscience, Università Cattolica del Sacro Cuore, Rome, Italy.
UOC Neurologia, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
出版信息
Neurol Ther. 2025 Feb;14(1):71-84. doi: 10.1007/s40120-024-00696-5. Epub 2025 Jan 3.
Hereditary transthyretin amyloidosis (ATTRv, v for variant) is a genetic disorder characterized by the deposition of misfolded transthyretin (TTR) protein in tissues, resulting in progressive dysfunction of multiple organs, including the nervous system, heart, kidneys, and gastrointestinal (GI) tract. Noninvasive serum biomarkers have become key tools for diagnosing and monitoring ATTRv. This review examines the role of available biomarkers for neurological, cardiac, renal, gastrointestinal, and multisystemic involvement in ATTRv. A thorough understanding of these biomarkers is essential for effective disease management and therapeutic monitoring.
遗传性转甲状腺素蛋白淀粉样变性（ATTRv，v代表变异型）是一种遗传性疾病，其特征是错误折叠的转甲状腺素蛋白（TTR）在组织中沉积，导致包括神经系统、心脏、肾脏和胃肠道在内的多个器官进行性功能障碍。非侵入性血清生物标志物已成为诊断和监测ATTRv的关键工具。本综述探讨了现有生物标志物在ATTRv神经系统、心脏、肾脏、胃肠道和多系统受累方面的作用。深入了解这些生物标志物对于有效的疾病管理和治疗监测至关重要。
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