Tsianakas A, Müller F B, Hunzelmann N, Kuwert C
Universitätsklinikum Münster, Klinik und Poliklinik für Hautkrankheiten.
Dtsch Med Wochenschr. 2007 Jan 19;132(3):91-4. doi: 10.1055/s-2007-959294.
A 49-year-old man of German parentage with Werner's syndrome (including insulin-dependent type 2 diabetes mellitus) was treated in our department for extensive ulcers on his lower legs.
Genetic analysis detected a novel compound heterozygous defect (1396delA and 2334delAC) of the WRN gene.
The ulcer clearly decreased in size on local and antibiotic treatment as well as autologous fibroplast transplantation. The most severely affected right small finger required amputation with exarticulation. The severe pain caused by the ulcer was successfully treated with temporary blockage of the stellate ganglion and permanent sympathetic blockage at the level of the 2nd thoracic and lumbar vertebrae.
Werner's syndrome is a rare form of progeria with an autosomal recessive mode of inheritance mimicking the symptoms of accelerated aging. The reduced life expectancy is caused by the increased incidence and early onset of atherosclerosis and malignant tumors. The detection of underlying molecular mechanisms will have an important impact in the field of anti-aging research.
一名有德国血统的49岁男性，患有沃纳综合征（包括胰岛素依赖型2型糖尿病），因小腿广泛溃疡在我科接受治疗。
基因分析检测到WRN基因存在一种新的复合杂合缺陷（1396delA和2334delAC）。
经局部治疗、抗生素治疗以及自体成纤维细胞移植后，溃疡大小明显减小。受影响最严重的右手小拇指需要关节离断截肢。通过星状神经节临时阻滞以及第二胸椎和腰椎水平的永久性交感神经阻滞，成功治疗了溃疡引起的剧痛。
沃纳综合征是一种罕见的早老症，呈常染色体隐性遗传模式，症状类似加速衰老。预期寿命缩短是由动脉粥样硬化和恶性肿瘤的发病率增加及发病年龄提前所致。潜在分子机制的发现将在抗衰老研究领域产生重要影响。
