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两例沃纳综合征兄弟姐妹的病例报告回顾

Review of Two Siblings with Werner's Syndrome: A Case Report.

作者信息

Sert Murat, Fakioglu Koray, Tetiker Tamer

机构信息

Division of Endocrinology, Department of Internal Medicine, Medical Faculty, Cukurova University, 01330 Adana, Turkey.

出版信息

Case Rep Med. 2009;2009:138312. doi: 10.1155/2009/138312. Epub 2010 Feb 7.

Abstract

We report the clinical course of two siblings with Werner's syndrome (WS) who were diagnosed and followed at our clinics for 12 years. Initial diagnosis of the first sibling (sister) was at age 20, the second (brother) at 16. At the initial diagnosis, the sister had amenorrhea, muscle atrophy at arms and legs, diabetes mellitus (DM), short stature, bilateral cataracts, genital hypoplasia, osteoporosis, and gray hair. During 12 years follow-up period, high-pitched voice, hepatosteatosis, renal parenchymal disease, and urethral obstruction developed. Regarding the brother, DM, cataracts and genital hypoplasia were observed at the initial diagnosis. During the 12 years follow-up period, gray hair, high-pitched voice, steatohepatosis, and osteoporosis developed.

摘要

我们报告了两名患有沃纳综合征(WS)的兄弟姐妹的临床病程,他们在我们的诊所被诊断并随访了12年。第一个兄弟姐妹(姐姐)最初诊断时20岁,第二个(弟弟)16岁。初诊时,姐姐出现闭经、手臂和腿部肌肉萎缩、糖尿病(DM)、身材矮小、双侧白内障、生殖器发育不全、骨质疏松和头发变白。在12年的随访期间,出现了高音调嗓音、肝脂肪变性、肾实质疾病和尿道梗阻。至于弟弟,初诊时发现患有糖尿病、白内障和生殖器发育不全。在12年的随访期间,出现了头发变白、高音调嗓音、脂肪性肝炎和骨质疏松。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b12e/2820261/80d3fccf11e6/CRM2009-138312.001.jpg

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