Glucocorticoid remediable aldosteronism: molecular diagnosis

BACKGROUND: The first family diagnosed in Spain of glucocorticoid remediabl e aldosteronism (GRA) is reported. SUBJECTS AND METHODS: We described the phenotype, biochemical values and ge netic diagnosis of a GRA pedigree, DNA analysis was performed by using Sout hern-blot and polymerase chain reaction. RESULTS: We reported a 14-year-old boy who presented with severe hypertensi on, and strong family history of early-onset hypertension. His suppressed p lasmatic renin activity, family history and failure to respond to conventio nal antihypertensive therapy raised GRA as a potential etiology, The diagno sis was confirmed by genetic testing, in the index case and in one of famil y members, which demonstrated the chimeric gene duplication, which was a re sultant of a crossing-over between the proximal portion of 11 beta-hydroxyl ase gen, CYP11B1, and the distal portion of aldosterone synthetase gene CYP 11B2. Two other family members, who died, suffered hyporeninemic severe hyp ertension. The cause of death in one of them was hemorrhagic stroke. Amilor ide, which blocks sodium transport in the distal nephron, plus hydrocloroth iazide was an effective treatment option. CONCLUSIONS: The role of molecular diagnosis techniques is essential for th e rapid diagnosis of cases of arterial hypertension secondary to familial g lucocorticoid remediable aldosteronism.