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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.

DOI:10.2147/CIA.S37213
PMID:24019745
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3760297/
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/cb8ad59ea21b/cia-8-1023Fig2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/173f/3760297/ae7518254a29/cia-8-1023Fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/173f/3760297/cb8ad59ea21b/cia-8-1023Fig2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/173f/3760297/ae7518254a29/cia-8-1023Fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/173f/3760297/cb8ad59ea21b/cia-8-1023Fig2.jpg

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本文引用的文献

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LMNA-associated cardiocutaneous progeria: an inherited autosomal dominant premature aging syndrome with late onset.LMNA 相关的心皮发育不良性进行性骨化症:一种具有晚发性的遗传性常染色体显性过早衰老综合征。
Am J Med Genet A. 2013 Jul;161A(7):1599-611. doi: 10.1002/ajmg.a.35971. Epub 2013 May 10.
2
Hutchinson-gilford progeria syndrome and its relevance to cardiovascular diseases and normal aging.
Biomed Environ Sci. 2013 May;26(5):382-9. doi: 10.3967/0895-3988.2013.05.007.
3
Spectrum and risk of neoplasia in Werner syndrome: a systematic review.沃纳综合征的肿瘤谱及风险:一项系统性回顾。
哈钦森-吉尔福德早衰综合征血管重建的间接搭桥术:病例说明
Childs Nerv Syst. 2025 Feb 17;41(1):113. doi: 10.1007/s00381-024-06705-0.
4
Hutchinson-Gilford progeria syndrome: unraveling the genetic basis, symptoms, and advancements in therapeutic approaches.哈钦森-吉尔福德早衰综合征:揭示其遗传基础、症状及治疗方法的进展
Ther Adv Rare Dis. 2024 Dec 16;5:26330040241305144. doi: 10.1177/26330040241305144. eCollection 2024 Jan-Dec.
5
Acute Coronary Syndrome Treated with Percutaneous Coronary Intervention in Hutchinson-Gilford Progeria.哈钦森-吉尔福德早衰综合征患者经皮冠状动脉介入治疗急性冠状动脉综合征
Children (Basel). 2023 Mar 8;10(3):526. doi: 10.3390/children10030526.
6
Atherosclerosis and Cardiovascular Diseases in Progeroid Syndromes.早老综合征中的动脉粥样硬化和心血管疾病。
J Atheroscler Thromb. 2022 Apr 1;29(4):439-447. doi: 10.5551/jat.RV17061. Epub 2021 Sep 11.
7
Mutations Involved in Premature-Ageing Syndromes.与早衰综合征相关的突变
Appl Clin Genet. 2021 Jun 2;14:279-295. doi: 10.2147/TACG.S273525. eCollection 2021.
8
Long-term survival in a patient with Hutchinson-Gilford progeria syndrome and osteosarcoma: A case report.一名患有哈钦森-吉尔福德早衰综合征和骨肉瘤患者的长期生存:病例报告
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Am J Case Rep. 2021 Jan 8;22:e928969. doi: 10.12659/AJCR.928969.
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PLoS One. 2013;8(4):e59709. doi: 10.1371/journal.pone.0059709. Epub 2013 Apr 1.
4
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A prospective study of radiographic manifestations in Hutchinson-Gilford progeria syndrome.进行性骨化性纤维发育不良的放射学表现的前瞻性研究。
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