| Autor: |
A, Tsianakas, F B, Müller, N, Hunzelmann, C, Kuwert |
| Jazyk: |
němčina |
| Rok vydání: |
2007 |
| Předmět: |
|
| Zdroj: |
Deutsche medizinische Wochenschrift (1946). 132(3) |
| ISSN: |
0012-0472 |
| Popis: |
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. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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