Endocrine Abstracts

JOINT2155

Background: Apparent mineralocorticoid excess (AME) is a genetic disorder. It is caused by deficiency of 11 beta-hydroxysteroid dehydrogenase type-2 (11βHSD2) enzyme activity in the kidney. 11βHSD2 is a member of the short-chain alcohol dehydrogenase family, catalyzes the NAD⁺-dependent dehydrogenation of cortisol so, converts cortisol to inactive cortisone. Circulating level of cortisol is 100- to 1,000-fold higher than aldosterone and it can occupy mineralocorticoid receptor and causes hypertension and hypokalemia with low renin and aldosterone

Case report: In this report, the success and pitfalls of medical therapy with spironolactone in 2 sisters and one brother after 32 years are described. At the time of diagnosis, the eldest sister was 14.2-years old. She had blood pressure (BP) of 260/140 mmHg, hypokalemia, retinopathy and left ventricular hypertrophy, polyuria and urinary incontinence. The brother was 11.6-years old and had general paralysis with blood pressure (BP) of 170/110 mmHg and serum potassium of 2 mEq/L. The younger sister was 4.16-years old with BP of 160/100 mmHg and serum potassium was 3.2 mEq/L. She had headache and occasional abdominal pain. Spironolactone treatment resulted in normal blood pressure and serum potassium level in all of the patients. They have lost from follow up for a long time. After 32 years, the eldest sister is 46 years old now, has two daughters. At the age of 36 years in her second pregnancy, she discontinued the medicine by herself. So, reduced left ventricular function with mitral and tricuspid regurgitation and renal failure were developed after child birth and renal transplantation became necessary. It resulted in cure of AME but she should take Immunosuppressant medicines lifelong. The brother is 43 years old. He has regularly taken one tablet of spironolactone twice daily all the time and is in good health without any complication. He has one 10-year-old son. The younger sister is 36 years old. She has not taken her medicine correctly and sometimes discontinued medicine for some period, so is taking medicines for her heart and hypertension, by administration of a cardiologist in her city.

Conclusion: Early and continuous treatment with appropriate dosage of spironolactone can improve hypertension and hypokalemia of apparent mineralocorticoid excess without end organ damage.