Endocrine Abstracts (2012) 29 S48.1

Genomic profile in primary aldosteronism

P. Hellman

Department of Surgical Sciences, Uppsala, Sweden.

Primary aldosteronism has recently been found as a common cause for essential or secondary hypertension. As much as 1/10 may be explained by this disease. Diagnosis is crucial, since a adrenalectomy may cure the patient.

The underlying cause in the majority of sporadic cases have been unknown until recently, while classically three forms of familial hyperadlosteronism (FH) exist: familial hypertension type I, II and III.

FHI, which occurs in childhood, is caused by a chimeric gene product combining the promotor of the 11-β-hydroxylase gene with the coding region of the aldosterone synthetase gene. This derangement is glucocorticoid sensitive.

In FHII there is no phenotypical difference towards classical sporadic PA, and genetic linkage exist to chromosome 7p22, as well as close to the MEN1 gene locus on 11q13.

FHIII is found in families with severe hypertension in early childhood, resistant to aggressive antihypertensive therapy. Although several genes have been proposed in FHIII, no one has been identified as the cause. A possible candidate is the recently identified mutation in the potassium channel KCNJ5, possibly explaining up to 40% of sporadic cases of PA. Interestingly, a family with early onset hypertension and bilateral hyperplasia and a mutation on KCNJ5 adds to the list of hereditary forms of PA.

Mutations in KNCJ5 (G151R or L168R) were found in 40% of aldosterone-producing adenomas which were associated with hyperplasia.

The talk comprise an overview of these genetic deragnements associated with PA.

Declaration of interest: The authors declare that there is no conflict of interest that could be perceived as prejudicing the impartiality of the research project.

Funding: This research did not receive any specific grant from any funding agency in the public, commercial or not-for-profit sector.

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