Apparent mineralocorticoid excess syndrome (AME) is an autosomal recessive genetic disorder caused by a deficiency in the enzyme 11β-hydroxysteroid dehydrogenase type 2 (11β-HSD). We report a 36-year-old male who was hypertensive from birth and was diagnosed with AME at 8 years of age. There was continuous documentation of his hypertension and hypokalemic alkalosis throughout childhood, during which spironolactone and supplemental potassium were administered. At 33 years of age, the patient received a renal transplant, and following this the AME appears to have been cured clinically with remission of his low renin hypertension and hypokalemic alkalosis despite termination of treatment with spironolactone and potassium supplements.
The steroid analysis work was funded by a Wellcome Trust Programme Grant (# 082809) and the European Research Council (#20090506), both awarded to Professor Paul Stewart. Supported in part by USPHS, NIH Division of Research Facilities and Resources, Clinical Research Centers RR 47.
Disclosure summary: The authors have nothing to disclose.
1. New MI, Levine LS, Biglieri EG, Pareira J, Ulick S. Evidence for an unidentified steroid in a child with apparent mineralocorticoid hypertension. J Clin Endocrinol Metab 1977;44:924–3310.1210/jcem-44-5-924Search in Google Scholar
2. Ulick S, Levine LS, Gunczler P, Zanconato G, Ramirez LC, et al. A syndrome of apparent mineralocorticoid excess associated with defects in the peripheral metabolism of cortisol. J Clin Endocrinol Metab 1979;49:757–64.10.1210/jcem-49-5-757Search in Google Scholar
3. Obeyesekere VR, Ferrari P, Andrews RK, Wilson RC, New MI, et al. The R337C mutation generates a high Km 11 beta-hydroxysteroid dehydrogenase type II enzyme in a family with apparent mineralocorticoid excess. J Clin Endocrinol Metab 1995;80:3381–3.Search in Google Scholar
5. Dave-Sharma S, Wilson RC, Harbison MD, Newfield R, Azar MR, et al. Examination of genotype and phenotype relationships in 14 patients with apparent mineralocorticoid excess. J Clin Endocrinol Metab 1998;83:2244–54.10.1210/jc.83.7.2244Search in Google Scholar
6. Palermo M, Shackleton CH, Mantero F, Stewart PM. Urinary free cortisone and the assessment of 11 beta-hydroxysteroid dehydrogenase activity in man. Clin Endocrinol (Oxf) 1996;45:605–11.10.1046/j.1365-2265.1996.00853.xSearch in Google Scholar
7. Palermo M, Cossu M, Shackleton CH. Cure of apparent mineralocorticoid excess by kidney transplantation (Letter to the editor). N Engl J Med 1998;10;339:1787–8.10.1056/NEJM199812103392414Search in Google Scholar
8. Palermo M, Delitala G, Sorba G, Cossu M, Satta R, et al. Does kidney transplantation normalise cortisol metabolism in apparent mineralocorticoid excess syndrome? J Endocrinol Invest 2000;23:457–62.10.1007/BF03343755Search in Google Scholar
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