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

Monogenic forms of low renin hypertension can now be identified in a large and heterogeneous family of hypertensive patients with highly specific etiologies and similar clinical manifestations. These include the following well-characterized disorders: apparent mineralocorticoid excess, Liddle's Syndrome, steroid 11beta-hydroxylase (11beta-OHD) and steroid 17-hydroxylase (17-OHD) deficiencies, glucocorticoid-remediable hyperaldosteronism (familial hyperaldosteronism type I), familial hyperaldosteronism type II, hypertension exacerbated by pregnancy and primary hyperaldosteronism (Conn's syndrome). The successful elucidation of specific DNA mutations in most of these conditions has emphasized the role of molecular genetics in hypertension, a field in which diagnosis can now be made on proven genetic evidence. The current knowledge of these genetic markers enables practitioners to make precise diagnoses, and to initiate specific therapy, in patients with these relatively uncommon but interesting and often treatable forms of hypertension.
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PMID:Monogenic low renin hypertension. 1580 5

Congenital adrenal hyperplasia due to steroid 11beta-hydroxylase deficiency is a genetic disorder of steroidogenesis, transmitted as an autosomal recessive trait. It is associated with low renin hypertension, hypokalemia, hyperandrogenemia and genital ambiguity in affected females. Mutations in the CYP11B1 gene, causing 11beta-hydroxylase deficiency in the zona fasciculata in the adrenal cortex, have been identified. The indicators of congenital adrenal hyperplasia caused by 11beta-hydroxylase deficiency, include increased serum concentrations of desoxycorticosterone, 11 deoxycortisol and delta4-androstenedione, and suppressed plasma renin concentrations. The disorder is treated by administration of glucocorticoids.
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PMID:Steroid 11beta- hydroxylase deficiency congenital adrenal hyperplasia. 1829 61

Glucocorticoid-remediable aldosteronism (GRA) is a hereditary cause of human hypertension in which aldosterone secretion is regulated by ACTH. Recent studies demonstrate that this disorder is caused by fusion of regulatory sequences of the steroid 11beta-hydroxylase gene to coding sequences of the aldosterone synthase gene. These mutations occur by unequal crossing over between these two genes and result in ectopic expression of aldosterone synthase in adrenal fasciculata. These features explain the physiology and genetics of GRA and provide the basis for a simple direct genetic test for this disorder.
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PMID:The molecular basis of a hereditary form of hypertension, glucocorticoid-remediable aldosteronism. 1840 35