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Diagnosis of Glucocorticoid-Remediable Aldosteronism in Primary Aldosteronism: Aldosterone Response to Dexamethasone and Long Polymerase Chain Reaction for Chimeric Gene

Departments of Medicine and Experimental Oncology (P.M., F.V., F.R., C.Z.) and Internal Medicine (P.L.), University of Torino, Torino, Italy; and the Division of Endocrinology, Institute of Semeiotica Medica, University of Padova (C.P., M.B., N.S., F.F.), Padova, Italy

Address all correspondence and requests for reprints to: Francesco Fallo, M.D., Division of Endocrinology, Institute of Semeiotica Medica, Via Ospedale 105, 35128 Padova, Italy.

Aldosterone suppression by dexamethasone, and high 18-hydroxycortisol and 18-oxocortisol levels are used to differentiate glucocorticoid-remediable aldosteronism (GRA) from other forms of primary aldosteronism. These methods are time consuming, expensive, and impractical for large studies. Moreover, diagnosis of GRA requires a confirmatory genetic test. We evaluated 117 patients with primary aldosteronism referred to our centers by the use of a long PCR technique to reveal the chimeric gene of GRA. In 60 of 117 patients, the response of aldosterone to dexamethasone (2 mg/day for 4 days) was also assessed. None of our patients, including 2 pairs of siblings, was positive for the chimeric gene. The results of long PCR were confirmed by Southern blotting. Despite a negative genetic test, 6 patients (1 with aldosterone-producing adenoma and 5 with idiopathic hyperaldosteronism) had plasma aldosterone suppressed by dexamethasone (i.e. 2 ng/dL). Of 117 patients, 43 were identified as having aldosterone-producing adenoma and 74 as having idiopathic hyperaldosteronism. In our experience, the long PCR technique is a reliable and simple test to at least exclude GRA in patients with primary aldosteronism. A short term dexamethasone suppression test of aldosterone can be misleading in identifying GRA. The prevalence of GRA in primary aldosteronism remains to be established.

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