Background: Familial hyperaldosteronism type 1 (FH-1), is caused by the presence of a chimeric CYP11B1/CYP11B2 gene that produces high amounts of aldosterone in response to ACTH and severe hypertension. An early diagnosis and treatment are important, not only to manage hypertension but also to avoid possible deleterious effects of aldosterone on the endothelium and cardiovascular diseases.
Clinical case: A 3 months old boy was referred for evaluation because his mother, grandfather and uncle have FH-1 confirmed by presence of chimeric CYP11B1/CYP11B2 gene. He was a pre-term newborn (36 weeks) and cesarean delivery due to IUGR (birth weight 2365 g.<p10th). He was admitted to hospital during his first week of life due to transient tachypnea, with normal electrolytes and blood pressure (75/54 mmHg, reference <106/62 mmHg) and unremarkable physical exam. Laboratory tests were consistent with hyperaldosteronism: serum aldosterone (SA)> 120 ng/dl (reference: 590 ng/dl), PRA=0.39 ng/ml*h−1, (reference: 2.3537 ng/ml*h-1), elevated aldosterone/renin ratio (ARR=307, no reference value for new-born), genetic study was performed by XL-PCR and confirmed chimeric CYP11B1/CYP11B2 gene. The patient began treatment with cortisol (10 mg/m2 per day) despite he had normal blood pressure. At the age of 8 months, his laboratory tests have normalized: SA (77.8 ng/dl, n: 590 ng/dl), PRA (5.2 ng/ml*h−1), ARR (14.9), normal echocardiography, normal fundoscopic exam. He has remained normotensive and has shown catch up growth without Cushing signs.
Conclusion: The early treatment with hydrocortisone (10 mg/m2 per dau) resolves the biochemical hyperaldosteronism in a normotensive infant with FH-1; which has been associated with adverse cardiovascular, cerebrovascular, metabolic and renal sequels independently of its effects on blood pressure. We suggest genetic counsel and early diagnosis in high risk patient to have FH-1.
Funding: Supported by Fondecyt 1130427 and 1150437, CORFO 13CTI-21526-P1 and IMII P09/016-F(ICM) Chilean Grants.
01 - 03 Oct 2015
European Society for Paediatric Endocrinology