Genetic aspects of primary hyperaldosteronism and pheochromocytoma

Autor: K. A. Balandina, S. B. Shustov, R. K. Galakhova, N. V. Vorokhobina
Rok vydání: 2017
Předmět:
Zdroj: "Arterial’naya Gipertenziya" ("Arterial Hypertension"). 23:178-185
ISSN: 2411-8524
1607-419X
Popis: Pheochromocytoma and primary hyperaldosteronism are the most common causes of secondary hypertension. In a group of patients with primary hyperaldosteronism the prevalence of somatic mutation has been established in patients with aldosterone-producing adenomas (APA), genetic mutations have been identified in patients with familytypes of the disease. The authors declare that aldosterone-producing cellular clusters, which derived from zona glomerulosa, appear as a result of somatic mutations and might be a precursor of APA. Development of bilateral adrenal hyperplasia and APA might be explained by an existence of autoantibodies and their chronic stimulation of zona glomerulosa. The assessment of somatic and germline mutations in patients with pheochromocytoma and paraganglioma facilitates early diagnostics other tumors within syndromic neoplasia. Implementation of new genetic test in practice would improve early diagnosis of adrenal pathology in hypertensive patients.
Databáze: OpenAIRE