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2015 ; 21
(4
): 400-5
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Genetics of primary aldosteronism
#MMPMID25667376
Vaidya A
; Hamrahian AH
; Auchus RJ
Endocr Pract
2015[Apr]; 21
(4
): 400-5
PMID25667376
show ga
OBJECTIVE: The American Association of Clinical Endocrinologists Adrenal
Scientific Committee has developed a series of articles to update members on the
genetics of adrenal diseases. METHODS: Case presentation, discussion of
literature, table, and bullet point conclusions. RESULTS: Primary aldosteronism
(PA) is the most common form of secondary hypertension. Early detection,
surveillance, and treatment of PA may mitigate future cardiovascular risk. The
genetics of PA are rapidly evolving, and the consideration for genetic causes of
PA are growing. Three inheritable forms of PA are now recognized: familial
hyperaldosteronism type I (glucocorticoid-remediable aldosteronism), familial
hyperaldosteronism type II, and familial hyperaldosteronism type III. The recent
discovery of familial hyperaldosteornism type III spurred a flurry of
international and collaborative research that is identifying more genetic and
molecular causes of PA that relate to mutations in membrane electrolyte transport
channels of zona glomerulosa cells. CONCLUSION: This article reviews the various
genetic forms of PA, including a focus on the molecular mechanisms involved,
diagnosis, and treatment.