Glucocorticoid remediable aldosteronism

From WikiMD's Wellnesspedia

Other Names: Familial hyperaldosteronism type 1; Hyperaldosteronism, familial type 1; Dexamethasone sensitive hypertension; Glucocorticoid sensitive hypertension

Glucocorticoid remediable aldosteronism also describable as aldosterone synthase hyperactivity, is an autosomal dominant disorder in which the increase in aldosterone secretion produced by ACTH is no longer transient.

Glucocorticoid-remediable aldosteronism is one of three types of familial hyperaldosteronism. Aldosterone is a hormone manufactured by the adrenal glands which helps the body retain water and sodium and excrete potassium.

Cause[edit | edit source]

It is caused by a fusion of the CYP11B1 and CYP11B2 genes .

Inheritance[edit | edit source]

Autosomal dominant pattern, a 50/50 chance.

It is inherited in an autosomal dominant manner.

Symptoms[edit | edit source]

Individuals with this condition usually have hypertension (high blood pressure) before age 21. These individuals are also at an increased risk for a certain type of stroke known as a hemorrhagic stroke. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.

100% of people have these symptoms

80%-99% of people have these symptoms

5%-29% of people have these symptoms

Diagnosis[edit | edit source]

The discovery of the genetic basis of the disorder has permitted the development of accurate diagnostic testing. Analysis of affected kindreds has demonstrated a high prevalence of early cerebral hemorrhage, largely as a result of aneurysms. Identification of affected individuals should allow direct neurovascular screening and targeted antihypertensive therapy.

Treatment[edit | edit source]

First-line therapy consists of a steroid such as prednisone, dexamethasone, or hydrocortisone. This will often correct the overproduction of aldosterone, lower the blood pressure, and correct the potassium levels. This template is no longer used; please see Template:Endocrine pathology for a suitable replacement

NIH genetic and rare disease info[edit source]

Glucocorticoid remediable aldosteronism is a rare disease.


Glucocorticoid remediable aldosteronism Resources

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