Suppr超能文献

衰老过快:一例罕见的沃纳综合征病例

Growing Old Too Fast: A Rare Case of Werner Syndrome.

作者信息

Kaur Anahat, Grover Punita, Albawaliz Anas, Chauhan Mahak, Barthel Brandon

机构信息

Internal Medicine, University of Missouri-Kansas City School of Medicine, Kansas City, USA.

Hematology and Oncology, University of Cincinnati, Cincinnati, USA.

出版信息

Cureus. 2019 May 24;11(5):e4743. doi: 10.7759/cureus.4743.

Abstract

Werner syndrome (WS) is rare adult-onset progeria characterized by premature aging and early death. Patients develop normally until adolescence and usually present in early adulthood. Our case highlights a common presentation of this uncommon disease, wherein a 29-year-old non-obese male with no known risk factors developed uncontrolled diabetes, hypertriglyceridemia, and rapidly progressive atherosclerotic vascular disease. Careful observation with attention to the presence of characteristic physical features and subsequent genetic testing helped diagnose the patient with this uncommon progeroid syndrome. Our case adds to the literature about this rare disease especially in patients of middle-eastern descent and also highlights the importance of having a high index of suspicion for WS when the initial clinical presentation is atypical.

摘要

沃纳综合征(WS)是一种罕见的成人早老症,其特征为早衰和早亡。患者在青春期前发育正常,通常在成年早期发病。我们的病例突出了这种罕见疾病的常见表现,即一名29岁无已知危险因素的非肥胖男性患上了难以控制的糖尿病、高甘油三酯血症和快速进展的动脉粥样硬化性血管疾病。通过仔细观察并留意特征性体征的存在,以及随后的基因检测,帮助诊断该患者患有这种罕见的早老样综合征。我们的病例补充了关于这种罕见疾病的文献,特别是在中东血统患者中,并且还强调了当初始临床表现不典型时,对沃纳综合征保持高度怀疑指数的重要性。

相似文献

6
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
[Atypical Werner syndrome: Atypical progeroid syndrome: A case report].
An Pediatr (Barc). 2010 Aug;73(2):94-7. doi: 10.1016/j.anpedi.2010.02.012. Epub 2010 May 10.
9
Speeding up the clock: The past, present and future of progeria.加速时钟:早衰症的过去、现在与未来
Dev Growth Differ. 2016 Jan;58(1):116-30. doi: 10.1111/dgd.12251. Epub 2015 Dec 21.
10
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.

本文引用的文献

9
Positional cloning of the Werner's syndrome gene.沃纳综合征基因的定位克隆
Science. 1996 Apr 12;272(5259):258-62. doi: 10.1126/science.272.5259.258.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验