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Accessible Unlicensed Requires Authentication Published by De Gruyter August 14, 2013

Remission of hypertension and electrolyte abnormalities following renal transplantation in a patient with apparent mineralocorticoid excess well documented throughout childhood

Ahmed M. Khattab, Cedric H.L. Shackleton, Beverly A. Hughes, Jayesh B. Bodalia and Maria I. New

Abstract

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.


Corresponding author: Maria I. New, Division of Adrenal Steroid Disorders, Department of Pediatrics, The Mount Sinai School of Medicine, 1249 Fifth Avenue, 4th Floor, Annex 419, New York, NY 10029, USA, Phone: +1212-241-7847, Fax: +1212-241-5405, E-mail: ;

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.

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Received: 2013-6-6
Accepted: 2013-6-18
Published Online: 2013-08-14
Published in Print: 2014-01-01

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