| Autor: |
Dreijerink, K. M.A., Roijers, J. F.M., Jansen-Schillhorn van Veen, J. M., Neijt, J. P., Van Vroonhoven, Th J.M.V., Lips, C. J.M. |
| Přispěvatelé: |
Internal medicine, CCA - Cancer biology and immunology, CCA - Imaging and biomarkers |
| Jazyk: |
Dutch; Flemish |
| Rok vydání: |
2000 |
| Předmět: |
|
| Zdroj: |
Nederlands Tijdschrift voor Geneeskunde, 144(51), 2437-2442. Bohn Stafleu van Loghum |
| ISSN: |
0028-2162 |
| Popis: |
MEN-I is an autosomal dominantly inherited disorder, characterised by the occurrence of multiple tumours, particularly in the parathyroid glands, the pancreatic islets, the pituitary gland and the adrenal glands, as well as by neuroendocrine carcinoid tumours. Various clinical manifestations are presented by description of three patients harbouring a MENI gene germline mutation. A 44-year-old man had symptoms of hyperparathyroidism and in addition to parathyroid adenomas proved to have tumours in the thymus, adrenal and pituitary glands. A 48-year-old woman from a family with MEN-I had suffered since her 40th year from headache and heartburn; she appeared to have adenomas in the parathyroid glands and gastrinomas in the pancreas, leading to a Zollinger-Ellison syndrome. One of her relatives, a man aged 29, had suffered from childhood from convulsions due to attacks of hypoglycaemia, and an insulinoma was assessed. In all patients, surgical and/or medical treatment alleviated symptoms. Clearly, the position or nature of the mutations in the MENI gene do not correlate with the clinical expression of the disease. Family investigation, DNA analysis and periodic examination improve quality of life and the life expectancy. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
|
