Open AccessGenetic aspects of primary hyperaldosteronism and pheochromocytoma
Author(s) -
Наталья Владимировна Ворохобина,
С Б Шустов,
К. А. Баландина,
Ravilya K. Galakhova
Publication year - 2017
Publication title -
arterialʹnaâ gipertenziâ
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.126
H-Index - 5
eISSN - 2411-8524
pISSN - 1607-419X
DOI - 10.18705/1607-419x-2017-23-3-178-185
Subject(s) - zona glomerulosa , hyperaldosteronism , pheochromocytoma , paraganglioma , aldosterone , germline mutation , medicine , germline , somatic cell , secondary hypertension , adenoma , hyperplasia , primary aldosteronism , endocrinology , pathology , mutation , biology , genetics , angiotensin ii , gene , blood pressure
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.