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Query: UMLS:C0020538 (hypertension)
 170,190 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Among the causes of secondary hypertension are a group of disorders with a Mendelian inheritance pattern. Recent advances in molecular biology have unveiled the pathogenesis of hypertension in many of these conditions. Remarkably, the mechanism in every case has proved to be upregulation of sodium (Na) reabsorption in the distal nephron, with accompanying expansion of extracellular volume. In one group, the mutations involve the Na-transport machinery in distal tubule cells themselves: the distal convoluted tubule (DCT) cell and the principal cell of the collecting duct. Examples include Liddle's syndrome, with an activating mutation of epithelial Na channel (ENaC); two types of Gordon's syndrome, with mutations in two regulatory kinases [with no lysine (K) serine/threonine protein kinases (WNK)1 or WNK4]; and apparent mineralocorticoid excess (AME), with an inactivating mutation in the glucocorticoid-metabolizing 11beta-hydroxysteroid dehydrogenase type 2 enzyme (11HD2). In another group, abnormal adrenal steroid production leads to inappropriate stimulation of the mineralocorticoid receptor (MR) in the distal nephron. The pathophysiology may involve inappropriate production of aldosterone [in glucocorticoid-remediable aldosteronism (GRA) and familial hyperaldosteronism type II (FH II)], of cortisol (in familial glucocorticoid resistance), or of other steroid metabolites (in congenital adrenal hyperplasia and GRA). In contrast to earlier beliefs, hypertension in many of the inherited disorders may be mild, and electrolyte and acid-base abnormalities are often not present. Monogenic hypertension should therefore enter the differential diagnosis of any child or adolescent with hypertension. Plasma renin activity (PRA) is the appropriate screening tool for all types of inherited hypertension.
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PMID:Heritable forms of hypertension. 1764 25

Hyperaldosteronism is associated with elevated cardiovascular risk. Using mineralocorticoid receptor antagonists a significant reduction in mortality was archived in patients with heart failure. In addition, in refractory hypertension and in patients with metabolic syndrome aldosterone seems to play an important role. Therapy with mineralocorticoidreceptor (MR) antagonists is feasible when aldosterone levels are elevated, in particular in patients with aldosterone-escape. Of particular interest is primary aldosteronism (PA). PA is one of the major causes of secondary hypertension. Since most patients with PA present with normokalemia screening has to be performed using the aldosterone renin ratio, in particular patients with refractory hypertension, young hypertensive patients and patients with incidentaloma. One has to point out that drugs that interfere with the aldosterone-renin-aldosterone-system need to be discontinued or changed. After successful screening, confirmatory testing (e.g. i.v. salt suppression test) has to follow. In order to differentiate between unilateral and bilateral disease computed tomography and adrenal vein sampling are performed. While unilateral adenomas can be cured surgically, bilateral adrenal hyperplasia is treated with MR-antagonists. In case of positive family history for PA one should consider familiar hyperaldosteronism (FH). Three forms are currently defined--FH type I, type II and type III. A hybrid gene consisting of CYP11B1 and CYP11B2 that produces aldosterone in an ACTH dependant manner can be found in FH type I. Diagnosis is verified by long range PCR. No underlying monogenetic cause for FH II and FH II could be detected so far. Through mechanisms way more than water and salt regulation, hyperaldosteronism can negatively influence cardiovascular mortality and morbidity and should therefore play an important part in diagnosis and therapy of arterial hypertension.
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PMID:[The role of aldosterone in hypertension]. 2021 71