Glenn M. Rich, MD; Stanley Ulick, MD; Sandra Cook, RN; Jennifer Z. Wang, MA; Richard P. Lifton, MD, PhD; Robert G. Dluhy, MD
Rich GM, Ulick S, Cook S, Wang JZ, Lifton RP, Dluhy RG. Glucocorticoid-remediable Aldosteronism in a Large Kindred: Clinical Spectrum and Diagnosis Using a Characteristic Biochemical Phenotype. Ann Intern Med. 1992;116:813-820. doi: 10.7326/0003-4819-116-10-813
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Published: Ann Intern Med. 1992;116(10):813-820.
▪ Objective: To define the clinical spectrum of glucocorticoid-remediable aldosteronism (GRA) in a large kindred.
▪ Design: 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.
▪ Setting: Outpatient General Clinical Research Centers and patients' homes.
▪ Measurements: 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.
▪ Results: 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).
▪ Conclusion: 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.
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Endocrine and Metabolism, Adrenal Disorders.
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Print ISSN: 0003-4819 | Online ISSN: 1539-3704
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