Glucocorticoid remediable aldosteronism

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

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

Inheritance

Autosomal dominant pattern, a 50/50 chance.

It is inherited in an autosomal dominant manner.

Symptoms

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

• Dexamethasone-suppressible primary hyperaldosteronism
• Hypertension

80%-99% of people have these symptoms

• Abnormal circulating renin(Abnormal plasma renin)
• Adrenal hyperplasia
• Enlarged adrenal glands

5%-29% of people have these symptoms

• Caesarian section
• Epistaxis(Bloody nose)
• Headache(Headaches)
• Hypokalemia(Low blood potassium levels)
• Intracranial hemorrhage(Bleeding within the skull)
• Muscle weakness(Muscular weakness)
• Nausea
• Polydipsia
• Extreme thirst
• Preeclampsia
• Secretory adrenocortical adenoma
• Tinnitus(Ringing in ears)

Diagnosis

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

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.

NIH genetic and rare disease info

• NIH info on Glucocorticoid remediable aldosteronism

Glucocorticoid remediable aldosteronism is a rare disease.

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