Glucocorticoid-remediable aldosteronism (GRA) is a monogenic form of human hypertension that predisposes to cerebral hemorrhage. As a result of a chimeric. Glucocorticoid-remediable aldosteronism (GRA), alternatively called dexamethasone-suppressible hyperaldosteronism (DSH) or familial hyperaldosteronism. Aldosterone suppression by dexamethasone, and high hydroxycortisol and oxocortisol levels are used to differentiate glucocorticoid-remediable.

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It is localized to the mitochondrial inner membrane. Services on Demand Journal.

Additional information Further information on this disease Classification s 4 Gene s 2 Clinical signs and symptoms Publications in PubMed Other website s 4. Indexed in Web of Science. Summary and related texts. Accordingly, screening of asymptomatic GRA patients with magnetic resonance angiography is recommended, beginning at puberty and every 5 yr thereafter similar to the recommendations for patients with adult polycystic kidney disease, where there is a similar frequency of aneurysm.

The association of GRA with thoracoabdominal aneurysms has not been studied.

In severe cases, dexamethasone can be combined with gglucocorticoid mineralocorticoid receptor antagonist and other non-specific antihypertensive drugs. Aldosterone-producing adenomas do not contain glucocorticoid-remediable aldosteronism chimeric gene duplications.

Glucocorticoid-remediable aldosteronism.

This is possibly due to the need for genetic screening techniques, such as Southern blotting, which are unpractical and expensive when used in a large number of subjects. It was with these observations in mind that the late Dr. Retrieved from ” https: The first-line treatment of GRA is the nightly use of dexamethasone or prednisone in doses sufficient to suppress early morning surges in ACTH and normalize blood pressure [ 21 ].


Labs either were within normal limits or were unremarkable. Thus, the blood pressure levels in GRA-affected children are usually greater than the percentile of age- and sex-matched controls.

Glucocorticoid-remediable aldosteronism GRAalternatively called dexamethasone-suppressible hyperaldosteronism DSH or familial hyperaldosteronism type I, a mineralocorticoid-excess state characterized by low PRA, is now a well-established subset of primary aldosteronism. In most gkucocorticoid, PRA was suppressed and unresponsive to stimuli such as upright posture and captopril, and plasma aldosterone was high on several occasions.

Hereditary hypertension caused by chimaeric gene duplications and ectopic expression of aldosterone synthase. GRA is an autosomal-dominant disorder and is the most common monogenic cause of human hypertension.

The extended-release formulation of the dihydropyridine calcium channel blocker nifedipine has also been advocated in the medical management of primary aldosteronism because this agent has also been shown to inhibit aldosterone biosynthesis in vitro. DNA sequence analyses of the chimeric genes from glucocorticoie pedigrees indicate that the sites of fusion are variable, but in all cases are upstream of exon 5, suggesting that encoded amino acids in exon 5 of aldosterone synthase are essential for aldosterone synthase enzymatic function.

Case Reports in Endocrinology

J Clin Endocrinol Metab ; PCR detection of chimeric genes was also performed in 30 healthy volunteers, all of whom were negative. The prevalence of GRA in this clinical setting remains to be established.

Childhood alxosteronism was remarkable for early onset hypertension discovered at the age of 10 after his first episode of dissection. The enzyme has steroid hydroxylase activity to synthesize aldosterone and other steroids.


Because of the side effects of glucocorticoids, in children eplerenone can be given instead. Glucocorticoid-remediable aldosteronism and pregnancy. All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License. Treatment The gratifying reduction in blood aldosteronis in response to directed monotherapy see below underscores the importance of making the diagnosis of GRA.

This section is empty. Adverse effects of this drug include rash and alddosteronism of liver enzymes. Non-directed anti-hypertensive therapies are often ineffective in GRA patients 9.

Glucocorticoid-remediable aldosteronism.

The regulation of aldosterone by ACTH in GRA also results in a circadian pattern of aldosterone production that parallels that of cortisol. In progress issue alert. In addition to clinical and biochemical evaluation, the collection of a single blood sample allowed us to rapidly look for the molecular abnormality characteristic of GRA.

Treatment with the mineralocorticoid receptor antagonists spironolactone and epleronone is also efficacious.

Hypertension associated with GRA is often difficult to control with conventional antihypertensive agents. CT angiogram Figure 1 demonstrated chronic dissection of the aortic arch not shown in figure terminating at thoracic stent and extending into the innominate and common carotid arteries and a pseudoaneurysm of the distal thoracic aorta just above the celiac artery Figures 1 and 2.

In fact, therapy to normalize laboratory values may unnecessarily increase the risk of cushingoid side effects