Glucocorticoid remediable aldosteronism: Difference between revisions
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{{Infobox medical condition | |||
| name = Glucocorticoid remediable aldosteronism | |||
| image = [[File:Autosomal_dominant_-_en.svg|200px]] | |||
| caption = Glucocorticoid remediable aldosteronism is inherited in an [[autosomal dominant]] pattern. | |||
| synonyms = GRA, familial hyperaldosteronism type I | |||
| specialty = [[Endocrinology]] | |||
| symptoms = [[Hypertension]], [[hypokalemia]], [[muscle weakness]], [[fatigue (medical)|fatigue]] | |||
| complications = [[Stroke]], [[myocardial infarction]], [[heart failure]] | |||
| onset = Typically in [[childhood]] or [[early adulthood]] | |||
| duration = [[Chronic (medicine)|Chronic]] | |||
| causes = Genetic mutation leading to [[aldosterone]] overproduction | |||
| risks = Family history of the condition | |||
| diagnosis = [[Genetic testing]], [[blood test]] for aldosterone and renin levels | |||
| differential = [[Primary hyperaldosteronism]], [[Cushing's syndrome]], [[Liddle syndrome]] | |||
| prevention = Genetic counseling | |||
| treatment = [[Glucocorticoid]] therapy, [[antihypertensive]] medications | |||
| medication = [[Dexamethasone]], [[spironolactone]], [[eplerenone]] | |||
| prognosis = Good with treatment | |||
| frequency = Rare | |||
| deaths = Rare, if untreated | |||
}} | |||
'''Other Names:''' Familial hyperaldosteronism type 1; Hyperaldosteronism, familial type 1; Dexamethasone sensitive hypertension; Glucocorticoid sensitive hypertension | '''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 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. | 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''' == | == '''Cause''' == | ||
It is caused by a fusion of the '''CYP11B1 and CYP11B2 genes''' . | It is caused by a fusion of the '''CYP11B1 and CYP11B2 genes''' . | ||
== '''Inheritance''' == | == '''Inheritance''' == | ||
It is inherited in an [[autosomal dominant]] manner. | It is inherited in an [[autosomal dominant]] manner. | ||
== '''Symptoms''' == | == '''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. | 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. | 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 | 100% of people have these symptoms | ||
* [[Dexamethasone]]-suppressible primary [[hyperaldosteronism]] | * [[Dexamethasone]]-suppressible primary [[hyperaldosteronism]] | ||
* [[Hypertension]] | * [[Hypertension]] | ||
80%-99% of people have these symptoms | 80%-99% of people have these symptoms | ||
* Abnormal circulating [[renin]](Abnormal plasma renin) | * Abnormal circulating [[renin]](Abnormal plasma renin) | ||
* Adrenal [[hyperplasia]] | * Adrenal [[hyperplasia]] | ||
* Enlarged [[adrenal glands]] | * Enlarged [[adrenal glands]] | ||
5%-29% of people have these symptoms | 5%-29% of people have these symptoms | ||
* Caesarian section | * Caesarian section | ||
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* Secretory adrenocortical [[adenoma]] | * Secretory adrenocortical [[adenoma]] | ||
* Tinnitus(Ringing in ears) | * Tinnitus(Ringing in ears) | ||
== '''Diagnosis''' == | == '''Diagnosis''' == | ||
The discovery of the genetic basis of the disorder has permitted the development of accurate diagnostic testing. | 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. | 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''' == | == '''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. | 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. | ||
Latest revision as of 03:20, 6 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
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| Glucocorticoid remediable aldosteronism | |
|---|---|
| |
| Synonyms | GRA, familial hyperaldosteronism type I |
| Pronounce | N/A |
| Specialty | Endocrinology |
| Symptoms | Hypertension, hypokalemia, muscle weakness, fatigue |
| Complications | Stroke, myocardial infarction, heart failure |
| Onset | Typically in childhood or early adulthood |
| Duration | Chronic |
| Types | N/A |
| Causes | Genetic mutation leading to aldosterone overproduction |
| Risks | Family history of the condition |
| Diagnosis | Genetic testing, blood test for aldosterone and renin levels |
| Differential diagnosis | Primary hyperaldosteronism, Cushing's syndrome, Liddle syndrome |
| Prevention | Genetic counseling |
| Treatment | Glucocorticoid therapy, antihypertensive medications |
| Medication | Dexamethasone, spironolactone, eplerenone |
| Prognosis | Good with treatment |
| Frequency | Rare |
| Deaths | Rare, if untreated |
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]
It is caused by a fusion of the CYP11B1 and CYP11B2 genes .
Inheritance[edit]
It is inherited in an autosomal dominant manner.
Symptoms[edit]
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[edit]
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]
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.
| Inborn errors of steroid metabolism | ||||||||||||||||||||
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NIH genetic and rare disease info[edit]
Glucocorticoid remediable aldosteronism is a rare disease.
| Rare and genetic diseases | ||||||
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Rare diseases - Glucocorticoid remediable aldosteronism
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