- MeSH
- Appendectomy methods MeSH
- Colectomy methods MeSH
- Middle Aged MeSH
- Humans MeSH
- Multiple Endocrine Neoplasia diagnosis classification pathology MeSH
- Appendiceal Neoplasms diagnosis classification MeSH
- Neuroendocrine Tumors * diagnosis drug therapy classification MeSH
- Neurofibromatosis 1 * diagnosis drug therapy genetics complications MeSH
- von Hippel-Lindau Disease diagnosis genetics MeSH
- Check Tag
- Middle Aged MeSH
- Humans MeSH
- Female MeSH
- Publication type
- Case Reports MeSH
Syndromy mnohočetné endokrinní neoplazie (MEN syndromy) jsou vzácná autozomálně dominantně dědičná onemocnění s přítomností nádorů dvou a více endokrinních žláz s možnou manifestací v časném dětském věku. Pozdní diagnóza MEN syndromu může být pro jedince fatální. Časná identifikace rizikových jedinců je proto klíčová pro prevenci a léčbu potenciálně život ohrožujících endokrinních a neendokrinních neoplazií. Z MEN syndromů má nejzávažnější prognózu MEN 2B syndrom, a to vzhledem k vysoce agresivnímu medulárnímu karcinomu štítné žlázy s časným postnatálním vývojem a vysokému zastoupení de novo mutací. Znalost neendokrinních projevů u tohoto syndromu proto může vést k časné diagnóze před rozvojem pokročilého maligního onemocnění. Popisujeme nejnovější poznatky o MEN syndromech se zaměřením na klinické symptomy, genetické pozadí, korelaci genotyp–fenotyp u MEN 2 syndromů, guidelines Americké tyreoidologické asociace pro screening vývoje nádorů a jejich léčbu u dětí.
Multiple endocrine neoplasia syndromes (MEN syndromes) are rare autosomal dominantly inherited diseases with the occurence of tumors of two or more endocrine glands, with possible manifestation in early childhood. A late diagnosis of MEN syndrome can be fatal for an individual. Early identification of at-risk individuals is therefore crucial for the prevention and treatment of potentially life-threatening endocrine and non-endocrine neoplasias. MEN 2B syndrome has the most serious prognosis due to highly aggressive medullary thyroid carcinoma with early postnatal development and a high prevalence of de novo mutations. Knowledge of the non-endocrine features of this syndrome may lead to early diagnosis before the development of advanced malignant disease. We describe the latest knowledge about MEN syndromes with a focus on clinical symptoms, genetic background, genotype-phenotype correlation in MEN 2 syndromes, American Thyroid Association guidelines for screening of tumors and their treatment in children.
- MeSH
- Early Detection of Cancer MeSH
- Child MeSH
- Humans MeSH
- Multiple Endocrine Neoplasia * genetics classification MeSH
- Mutation MeSH
- Age Factors MeSH
- Check Tag
- Child MeSH
- Humans MeSH
- Publication type
- Review MeSH
- Keywords
- mutace RET, BRAF, RAS,
- MeSH
- Molecular Diagnostic Techniques methods MeSH
- Genetic Markers MeSH
- Hirschsprung Disease genetics complications MeSH
- Humans MeSH
- Carcinoma, Medullary epidemiology genetics complications MeSH
- Multiple Endocrine Neoplasia genetics classification complications physiopathology MeSH
- Mutation * MeSH
- Thyroid Neoplasms * genetics classification physiopathology pathology MeSH
- Thyroid Cancer, Papillary genetics classification MeSH
- Proto-Oncogene Proteins c-ret genetics MeSH
- Signal Transduction MeSH
- Biopsy, Fine-Needle MeSH
- Age Factors MeSH
- Germ-Line Mutation genetics MeSH
- Check Tag
- Humans MeSH
- Publication type
- Review MeSH
- MeSH
- Humans MeSH
- Multiple Endocrine Neoplasia * diagnosis classification prevention & control therapy MeSH
- Check Tag
- Humans MeSH
- Publication type
- Review MeSH
Práce uvádí kazuistiku našeho ambulantního pacienta, u něhož byla diagnostikována primární hyperparatyreóza vzniklá na podkladě adenomu příštitných tělísek.
This casework describes a 37-years-old out-patient diagnosed with primary hyperparathyroidism caused by a parathyroid adenoma.
- MeSH
- Humans MeSH
- Multiple Endocrine Neoplasia diagnosis classification metabolism MeSH
- Parathyroid Neoplasms diagnosis metabolism secretion MeSH
- Parathyroid Hormone diagnostic use secretion adverse effects MeSH
- Parathyroidectomy MeSH
- Parathyroid Hormone-Related Protein biosynthesis metabolism adverse effects MeSH
- Check Tag
- Humans MeSH
- Publication type
- Case Reports MeSH
- MeSH
- Pheochromocytoma diagnosis metabolism therapy MeSH
- Carcinoid Tumor epidemiology classification complications MeSH
- Humans MeSH
- Multiple Endocrine Neoplasia classification MeSH
- Neuroendocrine Tumors diagnosis classification therapy MeSH
- Radionuclide Imaging utilization MeSH
- Somatostatin pharmacokinetics pharmacology therapeutic use MeSH
- Check Tag
- Humans MeSH
- MeSH
- Humans MeSH
- Multiple Endocrine Neoplasia diagnosis epidemiology classification MeSH
- Laryngeal Neoplasms diagnosis epidemiology classification MeSH
- Neuroendocrinology MeSH
- Check Tag
- Humans MeSH
- Publication type
- Review MeSH
