Background: The genetic causes of primary hyperaldosteronism are still being discovered.
Results: We present the case of a 17-years-old girl who was found by accident with severe hypertension (TA 180/100 mmHg, bilateral). Her personal history was unremarkable. Her father had hypertension and a paternal aunt had died at 55 due to a stroke. Both her sisters and mother had normal blood pressure. The cardiological examinationshowed concentric left ventricle hypertrophy (posterior wall 11 mm; interventricular septum 13 mm) with diastolic dysfunction of delayed relaxation. The renal and vascular ultrasound was normal.
The biochemical panel, including ionogram and renal function was normal. The clinical exam showed a slightly overweight girl with normal pubertal development and no signs of virilising or glucocorticoid excess. An abdominal CT was normal. The hormonal panel showed normal thyroid function; low normal ACTH (11.17, normal range 366 pg/ml); high normal cortisol (17.35, normal range 6.219 μg/dl); normal urinary and plasmatic metanefrines and normetanefrines and normal cromogranin A. The plasmatic renin was very low (<0.3; normal range 4.446.1 μUI/ml), with high normal aldosterone (341 pg/ml, normal range standing 25.2392 pg/ml) and an increased aldosterone/renin ratio (1136, normal range <19). After 2 days of dexamethasone (0.5 mg every 6 h) her aldosterone remained high (428) with low renin and high aldosteon/renin ratio (856). She was diagnosed with secondary hypertension due to primary hyperaldosteronism. Genetic testing showed she was heterozygous for a mutation in CACNA1H witch causes hyperaldosteronism and hypertension.
Conclusion: Primary familial hyperaldosteronism determines primary hypertension with early age onset and severe evolution. Rare causes are being discovered like the activatory mutation in the calcium channel (CaV3.2), which in abundant in the human adrenal glomerulosa. The mutation CACNA1HM1549V causes much slower inactivation of the calcium channel and thus higher aldosterone secretion.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology