ESPN 50th Annual Meeting

ESPN 2017


 
A Rare Endocrine Cause of Hypertension: Apparent Mineralocorticoid Access Syndrome
NURAN KÜÇÜK 1 SAYGIN ABALI 1 NUR CANPOLAT 2 YASEMIN AKIN 1 İBRAHIM MERIÇ 1 ESMA ESMI 1 GÜL ŞUMLU ÖZÇELIK 3 TÜLAY GÜRAN 4

1- KARTAL DR.LÜTFI KIRDAR TRAINING AND RESEARCH HOSPITAL, DIVISION OF PEDIATRICS, İSTANBUL
2- İSTANBUL UNIVERSITY CERRAHPAŞA MEDICINE FACULTY, DIVISION OF PEDIATRIC NEPHROLOGY, İSTANBUL
3- ŞIŞLI HAMIDIYE ETFAL TRAINING AND RESEARCH HOSPITAL, DIVISION OF PEDIATRICS, İSTANBUL
4- MARMARA UNIVERSITY MEDICINE FACULTY, DIVISION OF PEDIATRIC ENDOCRINOLOGY
 
Introduction:

 Apparent mineralocorticoid excess syndrome(AME) is an autosomal recessive disorder characterized by hypertension,hypokalemia,low plasma renin levels and hypoaldosteronism due to deficiency of 11-β-OH-steroid dehydrogenase type 2 enzyme(11 beta-HSD2),which metabolizes cortisol to cortisone.It is one of the rare causes of childhood hypertension.We herein present two siblings who were previously misdiagnosed as Bartter syndrome and then diagnosed with AME syndrome to emphasize the importance of blood gas and serum electrolytes in differential diagnosis of hypertension.

Material and methods:

 The 14-month-old girl was presented with polydipsia,poliuria,and fatigue.She had a history of having a brother who was being followed with the diagnosis of Bartter syndrome.Physical examination findings were normal except for her weight which was below 3rd percentile.Laboratory findings indicated hypokalemic metabolic alkalosis,hypostenuria and hypercalciuria.Urine output was high as 25-30cc/kg per hour.Although the diagnosis of Bartter syndrome was suspected based on those clinical and laboratory findings,low plasma renin activity (<0.1ng/mL/h) and high blood pressure levels during the follow up excluded Bartter syndrome.Cortisol to cortisone ratio was found to be high in 24-hour urine,indicating AME syndrome.Her brother was also using antihypertensive therapy and he had stage 2 hypertensive retinopathy and left ventricular hypertrophy.He was evaluated for AME syndrome;he had a low plasma renin activity and high 24-h urinary cortisol to cortisone ratio.His renal ultrasound showed bilaterally medullary nephrocalcinosis but the female case had normal renal ultrasound.

Results:

Both siblings were diagnosed as AME syndrome and the diagnosis was confirmed by steroid metabolites and homozygote mutations in 11 beta-HSD2 gene.They are being followed in a good condition under the therapy with oral potassium chloride, spironolacton and hydrochlorotiazide treatments.

Conclusions:

 AME syndrome should be kept in mind in patients with hypokalemic metabolic alkalosis and hypertension.