Suppr超能文献

你知道这种综合征吗?沃纳综合征。

Do you know this syndrome? Werner syndrome.

作者信息

Bilgiç Özlem

机构信息

School of Medicine, Selcuk University - Konya, Turkey.

出版信息

An Bras Dermatol. 2017 Mar-Apr;92(2):271-272. doi: 10.1590/abd1806-4841.20174640.

Abstract

Werner syndrome is a rare autosomal recessive disorder, caused by mutations in the WRN gene. Clinical findings include: senile appearance, short stature, grey hair, alopecia, bird-like face, scleroderma-like skin changes, skin ulcers, voice abnormalities, cataracts, osteoporosis, type 2 diabetes mellitus, ischemic heart disease and hypogonadism. The syndrome begins to become apparent in adolescence but it is usually diagnosed in the third or fourth decade of life. Since the patients usually die by the age of 40-50 years related to malignant neoplasms or atherosclerotic complications, they should be closely followed and treated for complications.

摘要

沃纳综合征是一种罕见的常染色体隐性疾病,由WRN基因突变引起。临床症状包括:老年外貌、身材矮小、白发、脱发、鸟脸、硬皮病样皮肤改变、皮肤溃疡、声音异常、白内障、骨质疏松、2型糖尿病、缺血性心脏病和性腺功能减退。该综合征在青春期开始显现,但通常在生命的第三个或第四个十年被诊断出来。由于患者通常在40至50岁时死于恶性肿瘤或动脉粥样硬化并发症,因此应密切随访并对并发症进行治疗。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4be2/5429123/6d906c4f1814/abd-92-02-0271-g01.jpg

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验