We report on a 17-year-old female patient with cramps in hands and legs since 6 months. She showed hypokalemia with high need of potassium substitution (128mmol K= 1.3 mmol/kg/d), arterial hypertension (mean 154.5/92 mmHg), polydipsia and polyuria without nocturia or salt craving. Her PMH revealed neuroblastoma stage III with high-dose chemotherapy, stem cell transplantation and obesity (36.8 kg/m2). Further investigation showed aldosterone 77.5 ng/dl (norm values: 2-10ng/dl), renin 1 ng/l (8.3-43.4 ng/l), aldosterone-renin-ratio (ARR): 77.5. A GS-MS steroid profile from 24h urine revealed excretion of tetrahydroaldosterone of 2-fold of the upper norm. A saline loading test (2l NaCl 0.9% in 4h), showed inadequate suppression of aldosterone values (basal: 16.6 ng/dl, after SLT: 10.8 ng/dl, normal: 2-10 ng/dl). Thus suspicion of primary hyperaldosteronism was rised. There was no evidence of pheochromocytoma (normal metanephrines and normetanephrines in urine). An NGS panel diagnostic for hereditary hypertension and familial forms of hyperaldosteronism was unremarkable (CYP11B1/CYP11B2, CUL3, KLHL3, KCNJ5, etc). A CT abdomen showed discrete bilateral adrenal hypertrophy without definite evidence of a mass. A captopril test showed insufficient aldosterone suppression with suppressed renin. Adrenal vein catheterization followed for subtype differentiation of primary hyperaldosteronism: peripheral blood: cortisol 6.2 μg/dl, aldosterone: 28.2 ng/dl, A/C: 4.5; left suprarenal vein: cortisol 1363 μg/dl, aldosterone: 2148 ng/dl, A/C: 1.5, ratio cortisol AV/ cortisol PV: 219.13; right suprarenal vein: cortisol 281.7 μg/dl, aldosterone: 1205 ng/dl, A/C: 4.2, ratio cortisol AV/ cortisol PV: 45.29. There was no lateralization of the aldosterone/cortisol quotient (ratio A/C right/ A/C left: 2.8), consistent with CT morphologic evidence of bilateral NNR hyperplasia without definite space-occupying lesion. In synopsis, we found primary hypokalemic hyperaldosteronism with bilateral adrenal hyperplasia. Therapy with spironolactone was started (50 mg/d), potassium substitution could be discontinued and blood pressure normalised.
15 Sep 2022 - 17 Sep 2022