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FAMILIAL HYPERALDOSTERONISM TYPE II: FIVE FAMILIES WITH A NEW VARIETY OF PRIMARY ALDOSTERONISM
Author(s) -
Stowasser Michael,
Gordon Richard D.,
Tunny Terry J.,
Klemm Shelley A.,
Finn Wendy L.,
Krek Anton L.
Publication year - 1992
Publication title -
clinical and experimental pharmacology and physiology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.752
H-Index - 103
eISSN - 1440-1681
pISSN - 0305-1870
DOI - 10.1111/j.1440-1681.1992.tb00462.x
Subject(s) - primary aldosteronism , hyperaldosteronism , aldosterone , aldosterone synthase , plasma renin activity , medicine , endocrinology , adenoma , adrenal adenoma , renin–angiotensin system , blood pressure
SUMMARY 1. Thirteen patients from five families had Familial Hyperaldosteronism Type II (FH‐II), a new variety of familial primary aldosteronism not suppressible with dexamethasone that often involves adrenocortical adenoma formation. 2. Five patients had solitary aldosterone‐producing adenomas, three had bilateral autonomous overproduction of aldosterone, and in five the subtype is yet to be determined. 3. Comparing FH‐II patients with 88 patients with primary aldosteronism of other causes revealed no differences in mean age at presentation or at onset of hypertension, sex incidence, lowest recorded serum potassium, plasma aldosterone, plasma renin activity or adenoma size. 4. Analysis of DNA in peripheral blood of patients with FH‐II, their affected and unaffected relatives, and in removed tumours is in progress in order to determine the underlying genetic defect(s) in FH‐II, perhaps an abnormality in the P‐450 aldo gene (CYP11B2). 5. It is recommended that hypertensive relatives of patients with primary aldosteronism should have measurements of the aldosterone/renin ratio.