Familial hyperaldosteronism
Última actualización 21 Ago 2023
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Familial hyperaldosteronism is a group of inherited conditions in which the adrenal glands, which are small glands located on top of each kidney, produce too much of the hormone aldosterone. Aldosterone helps control the amount of salt retained by the kidneys. Excess aldosterone causes the kidneys to retain more salt than normal, which in turn increases the body's fluid levels and blood pressure. People with familial hyperaldosteronism may develop severe high blood pressure (hypertension), often early in life. Without treatment, hypertension increases the risk of strokes, heart attacks, and kidney failure.
Descripción
Familial hyperaldosteronism is a group of inherited conditions in which the adrenal glands, which are small glands located on top of each kidney, produce too much of the hormone aldosterone. Aldosterone helps control the amount of salt retained by the kidneys. Excess aldosterone causes the kidneys to retain more salt than normal, which in turn increases the body's fluid levels and blood pressure. People with familial hyperaldosteronism may develop severe high blood pressure (hypertension), often early in life. Without treatment, hypertension increases the risk of strokes, heart attacks, and kidney failure.
Familial hyperaldosteronism is categorized into three types, distinguished by their clinical features and genetic causes. In familial hyperaldosteronism type I, hypertension generally appears in childhood to early adulthood and can range from mild to severe. This type can be treated with steroid medications called glucocorticoids, so it is also known as glucocorticoid-remediable aldosteronism (GRA). In familial hyperaldosteronism type II, hypertension usually appears in early to middle adulthood and does not improve with glucocorticoid treatment. In most individuals with familial hyperaldosteronism type III, the adrenal glands are enlarged up to six times their normal size. These affected individuals have severe hypertension that starts in childhood. The hypertension is difficult to treat and often results in damage to organs such as the heart and kidneys. Rarely, individuals with type III have milder symptoms with treatable hypertension and no adrenal gland enlargement.
There are other forms of hyperaldosteronism that are not familial. These conditions are caused by various problems in the adrenal glands or kidneys. In some cases, a cause for the increase in aldosterone levels cannot be found.
Patrones de herencia
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Otros nombres
Familial primary aldosteronism
FH
Hereditary aldosteronism
Hyperaldosteronism, familial
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Lecturas adicionales y referencias
- Familial hyperaldosteronism; MedlinePlus, National Library of Medicine.
- Funder JW. The genetic basis of primary aldosteronism. Curr Hypertens Rep. 2012 Apr;14(2):120-4. doi: 10.1007/s11906-012-0255-x.
- Martinez-Aguayo A, Fardella C. Genetics of hypertensive syndrome. Horm Res. 2009;71(5):253-9. doi: 10.1159/000208798. Epub 2009 Apr 1.
- Monticone S, Hattangady NG, Penton D, Isales CM, Edwards MA, Williams TA, Sterner C, Warth R, Mulatero P, Rainey WE. a Novel Y152C KCNJ5 mutation responsible for familial hyperaldosteronism type III. J Clin Endocrinol Metab. 2013 Nov;98(11):E1861-5. doi: 10.1210/jc.2013-2428. Epub 2013 Sep 13.
- Moraitis AG, Rainey WE, Auchus RJ. Gene mutations that promote adrenal aldosterone production, sodium retention, and hypertension. Appl Clin Genet. 2013 Dec 24;7:1-13. doi: 10.2147/TACG.S35571.
- Mulatero P, Monticone S, Rainey WE, Veglio F, Williams TA. Role of KCNJ5 in familial and sporadic primary aldosteronism. Nat Rev Endocrinol. 2013 Feb;9(2):104-12. doi: 10.1038/nrendo.2012.230. Epub 2012 Dec 11.
- Mulatero P, Tizzani D, Viola A, Bertello C, Monticone S, Mengozzi G, Schiavone D, Williams TA, Einaudi S, La Grotta A, Rabbia F, Veglio F. Prevalence and characteristics of familial hyperaldosteronism: the PATOGEN study (Primary Aldosteronism in TOrino-GENetic forms). Hypertension. 2011 Nov;58(5):797-803. doi: 10.1161/HYPERTENSIONAHA.111.175083. Epub 2011 Aug 29.
- Quack I, Vonend O, Rump LC. Familial hyperaldosteronism I-III. Horm Metab Res. 2010 Jun;42(6):424-8. doi: 10.1055/s-0029-1246187. Epub 2010 Feb 3.
- Stowasser M, Gordon RD. Monogenic mineralocorticoid hypertension. Best Pract Res Clin Endocrinol Metab. 2006 Sep;20(3):401-20. doi: 10.1016/j.beem.2006.07.008.
- Stowasser M. Primary aldosteronism and potassium channel mutations. Curr Opin Endocrinol Diabetes Obes. 2013 Jun;20(3):170-9. doi: 10.1097/MED.0b013e32835ef2fd.
- Williams SS. Advances in genetic hypertension. Curr Opin Pediatr. 2007 Apr;19(2):192-8. doi: 10.1097/MOP.0b013e32801e217c.
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