Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0085580 (essential hypertension)
 14,686 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 5-year-old female Siberian husky that was diagnosed as an essential hypertensive was bred several times over a 5-year period, producing a colony of 39 offspring. Thirty of the 39 animals were subjected to biweekly systemic arterial blood pressure determinations with femoral arterial puncture and were placed into two hypertensive and two normotensive groups based on mean blood pressure: Group 1 (mean blood pressure, 128 +/- 12 mm Hg), Group 2 (mean blood pressure, 121 +/- 3 mm Hg), Group 3 (mean blood pressure, 114 +/- 8 mm Hg), and Group 4 (mean blood pressure, 101 +/- 9 mm Hg). Groups 1, 2, and 3 had mean blood pressures significantly higher than that of Group 4 (p less than 0.05). Ten dogs (representatives from Groups 1, 2, and 3) were subjected to more detailed clinical testing including angiography, echocardiography, ophthalmic examination, plasma catecholamine and renin activity measurements, plasma lead and cadmium determinations, cerebrospinal fluid examination, renal profile, and serum chemistry and hematological analysis. Five unrelated normotensive Siberian huskies were compared with colony dogs by using echocardiography. Groups 1 and 2 showed a clear but statistically insignificant upward trend in left ventricular wall thickness indexed against body weights when compared with that in Group 3 and in the unrelated five normal Siberian dogs. Thus, the only specific difference from group to group in the colony at the termination of this study was the difference in mean blood pressure. Based on these data, it is possible and likely that aging will reveal changes secondary to chronic primary hypertension. The pathogenesis of this hereditary disorder remains unknown.
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PMID:Primary hypertension in a colony of dogs. 379

The aim of this study was to measure intima-media thickness (IMT) of the common carotid artery (CCA) in patients with hypertrophic cardiomyopathy (HCM) and in hypertensive patients with left ventricular hypertrophy (LVH). We studied 73 subjects: 20 normotensive healthy subjects as control group (I); 20 patients with essential hypertension without LVH (II); 20 hypertensives with LVH (III), and 13 normotensive patients with HCM (IV). Each subject underwent a complete echocardiographic and vascular ultrasonographic study in order to assess left ventricular parameters and the IMT at the level of the CCA. Left ventricular mass index (LVMI) was significantly higher in groups III and IV than in groups I and II (156 +/- 18 and 157 +/- 31 vs. 94 +/- 14 and 98 +/- 10 g/m2, respectively, p < 0.01), while IMT was significantly greater in group III but not in the others [0.88 +/- 0.04 vs. 0.61 +/- 0.03 (I), 0.64 +/- 0.03 (II) and 0.61 +/- 0.04 (IV) mm, p < 0.01]. The correlation between LVMI and IMT was statistically significant within all the hypertensive patients (r = 0.48, p < 0.01) but not in the HCM group (r = 0.17, p = NS). The hypertensive patients with LVH showed structural alterations (related to hemodynamic and humoral factors) both at cardiac and vascular level while in patients with HCM the cardiac alterations (due to a genetic disorder) were not associated with changes at the level of the large arteries.
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PMID:Cardiac and carotid structure in arterial hypertension and in hypertrophic cardiomyopathy. 761 93

Severe low-renin hypertension has few known causes. Apparent mineralocorticoid excess (AME) is a genetic disorder that results in severe juvenile low-renin hypertension, hyporeninemia, hypoaldosteronemia, hypokalemic alkalosis, low birth weight, failure to thrive, poor growth, and in many cases nephrocalcinosis. In 1995, it was shown that mutations in the gene (HSD11B2) encoding the 11beta-hydroxysteroid dehydrogenase type 2 enzyme (11beta-HSD2) cause AME. Typical patients with AME have defective 11beta-HSD2 activity, as evidenced by an abnormal ratio of cortisol to cortisone metabolites and by an exceedingly diminished ability to convert [11-3H]cortisol to cortisone. Recently, we have studied an unusual patient with mild low-renin hypertension and a homozygous mutation in the HSD11B2 gene. The patient came from an inbred Mennonite family, and though the mutation identified her as a patient with AME, she did not demonstrate the typical features of AME. Biochemical analysis in this patient revealed a moderately elevated cortisol to cortisone metabolite ratio. The conversion of cortisol to cortisone was 58% compared with 0-6% in typical patients with AME whereas the normal conversion is 90-95%. Molecular analysis of the HSD11B2 gene of this patient showed a homozygous C-->T transition in the second nucleotide of codon 227, resulting in a substitution of proline with leucine (P227L). The parents and sibs were heterozygous for this mutation. In vitro expression studies showed an increase in the Km (300 nM) over normal (54 nM). Because approximately 40% of patients with essential hypertension demonstrate low renin, we suggest that such patients should undergo genetic analysis of the HSD11B2 gene.
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PMID:A genetic defect resulting in mild low-renin hypertension. 970 24

As it is well known, hypertension is one of common diseases in civilized countries. Since essential hypertension is closely associated with our life style, it is called as one of "life style diseases". However, it is also evident that essential hypertension is an inherited familial disease, and evidence of the candidate genes has been accumulating. Point mutation of a single gene can cause hypertension as evidenced by the discovery in Liddle's syndrome, glucocorticoid remediable hyperaldosteronism, and an apparent mineral corticoid-excess syndrome. However, multiple anomalies of genes seem to be involved in essential hypertension. Even though the definite cause of hypertension is a genetic disorder, life style modification can prevent development of essential hypertension. Supplementation of potassium and/or suppression of sodium intake are effective for treatment of hypertension. In contrast, supplementation of sodium salt causes hypertension. Thereby, renal function to excrete sodium plays a key role, which is regulated by sympathetic nervous system activity via the renal nerves. The sympathetic activation is triggered by sodium loading, which may be mediated via releases of endogenous digitalis-like factors from the hypothalamus. Development of novel laboratory tests provides accurate diagnosis of pathophysiology of hypertension. The mechanism of essential hypertension is thus getting to be clear, which has led to the ideal treatment of hypertensive individuals. This article reviews the recent development in understanding of pathophysiology, laboratory tests, and treatment of hypertension.
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PMID:[Hypertension]. 1051