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- Title
Glucocorticoid-remediable aldosteronism in a large kindred: clinical spectrum and diagnosis using a characteristic biochemical phenotype.
- Authors
Rich, Glenn M.; Ulick, Stanley; Cook, Sandra; Wang, Jennifer Z.; Lifton, Richard P.; Dluhy, Robert G.; Rich, G M; Ulick, S; Cook, S; Wang, J Z; Lifton, R P; Dluhy, R G
- Abstract
<bold>Objective: </bold>To define the clinical spectrum of glucocorticoid-remediable aldosteronism (GRA) in a large kindred.<bold>Design: </bold>Screening all at-risk relatives of a proband for GRA using a specific biochemical phenotype and collecting of medical histories of kindred members from five generations.<bold>Setting: </bold>Outpatient General Clinical Research Centers and patients' homes.<bold>Measurements: </bold>Screening was done while patients were on a self-selected diet and included blood pressure determinations; serum potassium and plasma renin activity and aldosterone measurements; and 24-hour urinary tetrahydroaldosterone, 18-oxotetrahydrocortisol, and 18-hydroxycortisol measurements.<bold>Results: </bold>Diagnosis of GRA was established on the basis of a previously described specific biochemical abnormality, overproduction of the cortisol C-18 oxidation products (18-oxotetrahydrocortisol and 18-hydroxycortisol) in urine and their ratio relative to tetrahydroaldosterone. Glucocorticoid-remediable aldosteronism was diagnosed in 11 additional patients spanning three generations; this group included the youngest patient (3 months old) ever diagnosed with GRA. Complete penetrance of the biochemical abnormality is likely, with 11 of 18 at-risk patients displaying the phenotype. All patients with GRA had elevated blood pressure. Affected adult patients had been diagnosed as hypertensive before reaching 21 years of age (n = 7 mean, 16.1 +/- 3.4 years). All affected patients were normokalemic (4.3 +/- 0.3 mmol/L).<bold>Conclusion: </bold>Hypertension is a characteristic feature of GRA. Elevated blood pressure in this kindred developed at an early age and often was severe. Because a normal potassium level does not exclude the diagnosis of GRA, the disorder may be underdiagnosed. The value of a specific cortisol C-18 oxidation phenotype in the diagnosis of GRA has been confirmed.
- Subjects
GLUCOCORTICOIDS; HYPERALDOSTERONISM; COMPARATIVE studies; GENEALOGY; GENES; GENETIC techniques; HYDROCORTISONE; HYPERTENSION; LONGITUDINAL method; RESEARCH methodology; MEDICAL cooperation; RENIN; RESEARCH; PHENOTYPES; EVALUATION research; DEXAMETHASONE
- Publication
Annals of Internal Medicine, 1992, Vol 116, Issue 10, p813
- ISSN
0003-4819
- Publication type
journal article
- DOI
10.7326/0003-4819-116-10-813