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早衰的流行病学及其相关合并症。

The epidemiology of premature aging and associated comorbidities.

机构信息

Department of Translational Research and New Technologies in Medicine and Surgery, University of Pisa, Pisa, Italy.

出版信息

Clin Interv Aging. 2013;8:1023-32. doi: 10.2147/CIA.S37213. Epub 2013 Aug 5.

Abstract

Hutchinson-Gilford Progeria Syndrome and Werner syndrome, also known as childhood- and adulthood-progeria, respectively, represent two of the best characterized human progeroid diseases with clinical features mimicking physiological aging at an early age. The discovery of their genetic basis has led to the identification of several gene mutations leading to a spectrum of progeroid phenotypes ranging from moderate and mild-severe to very aggressive forms. In parallel, the creation of disease registers and databases provided available data for the design of relatively large-scale epidemiological studies, thereby allowing a better understanding of the nature and frequency of the premature aging-associated signs and symptoms. The aim of this article is to review the most recent findings concerning the epidemiology of premature aging disorders, their genetic basis, and the most recent reports on the frequency of associated diseases.

摘要

亨廷顿舞蹈病-吉福德早衰综合征和沃纳综合征,也分别被称为儿童早老症和成人早老症,是两种最具特征性的人类早衰疾病,其临床表现类似于在早年就出现生理性衰老。对其遗传基础的发现导致了几种基因突变的鉴定,这些突变导致了一系列的早衰表型,从中度和轻度严重到非常严重的形式不等。与此同时,疾病登记和数据库的创建为设计相对大规模的流行病学研究提供了可用数据,从而使人们更好地了解与过早衰老相关的体征和症状的性质和频率。本文旨在综述与过早衰老障碍的流行病学、遗传基础以及与这些疾病相关的最新报告有关的最新发现。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/173f/3760297/ae7518254a29/cia-8-1023Fig1.jpg

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