Glucocorticoid remediable aldosteronism, also called familial hyperaldosteronism type I, is an inherited condition in which the adrenal glands, the small glands that sit on top of each kidney, make too much of the hormone aldosterone. Aldosterone helps the kidneys control how much salt the body keeps, so an excess makes the kidneys hold on to salt and fluid and raises blood pressure. High blood pressure usually appears between childhood and early adulthood and can be mild or severe, and without treatment it raises the risk of stroke, heart attack and kidney failure. The cause is an abnormal fusion of two neighboring genes on chromosome 8, CYP11B1 and CYP11B2, which leads to overproduction of the enzyme aldosterone synthase. The condition is inherited in an autosomal dominant pattern. It takes its name from the fact that it can be treated with glucocorticoid steroid medicines, which sets it apart from the other familial forms of hyperaldosteronism.
Facts
Classification
ICD-10 ChapterIV: Endocrine, Nutritional and Metabolic Diseases 2 Communicable or Non-communicable Transmission Route Causative Agent
Causative Agent (category) Connections
Treated By
Source Familial hyperaldosteronism (MedlinePlus Genetics)
Sources
1. Familial hyperaldosteronism (MedlinePlus Genetics)
Description
the adrenal glands, which are small glands located on top of each kidney, produce too much of the hormone aldosterone
Causes
Familial hyperaldosteronism type I is caused by the abnormal joining together (fusion) of two similar genes called CYP11B1 and CYP11B2
Inheritance
This condition is inherited in an autosomal dominant pattern
View the Source2. EMBL-EBI Ontology Lookup Service: glucocorticoid-remediable aldosteronism (MONDO term)
EMBL-EBI Ontology Lookup Servicedatabase_cross_reference of the MONDO term glucocorticoid-remediable aldosteronism; ICD-10 chapter derived from code E26.02 (WHO range E00-E90)Quote, database_cross_reference of the MONDO term glucocorticoid-remediable aldosteronism; ICD-10 chapter derived from code E26.02 (WHO range E00-E90)
ICD10CM:E26.02
View the Source Reader Challenges (0)
No disputes yet. Spotted an error or a better source? Open the first one.
Sign in to dispute this or suggest a correction.