[Remediable glucocorticoid hyperaldosteronism: molecular diagnosis].
BACKGROUND
The first family diagnosed in Spain of glucocorticoid remediable aldosteronism (GRA) is reported.


METHODS
We described the phenotype, biochemical values and genetic diagnosis of a GRA pedigree. DNA analysis was performed by using Southern-blot and polymerase chain reaction.


RESULTS
We reported a 14-year-old boy who presented with severe hypertension, and strong family history of early-onset hypertension. His suppressed plasmatic renin activity, family history and failure to respond to conventional antihypertensive therapy raised GRA as a potential etiology. The diagnosis was confirmed by genetic testing, in the index case and in one of family members, which demonstrated the chimeric gene duplication, which was a resultant of a crossing-over between the proximal portion of 11 beta-hydroxylase gen, CYP11B1, and the distal portion of aldosterone synthetase gene CYP11B2. Two other family members, who died, suffered hyporeninemic severe hypertension. The cause of death in one of them was hemorrhagic stroke. Amiloride, which blocks sodium transport in the distal nephron, plus hydroclorothiazide was an effective treatment option.


CONCLUSIONS
The role of molecular diagnosis techniques is essential for the rapid diagnosis of cases of arterial hypertension secondary to familial glucocorticoid remediable aldosteronism.
Lurbe
E
E
Unidad de Nefrología Pediátrica, Hospital General, Valencia.
Chaves
F J
FJ
Torró
I
I
Armengod
M E
ME
Alvarez
V
V
Redon
J
J
D000293:Adolescent; D000328:Adult; D000483:Alleles; D015139:Blotting, Southern; D002648:Child; D002874:Chromosome Mapping; D003937:Diagnosis, Differential; D005091:Exons; D015870:Gene Expression / Q000235:genetics; D005938:Glucocorticoids / Q000627:therapeutic use*; D006801:Humans; D006929:Hyperaldosteronism / Q000188:drug therapy* / Q000235:genetics*; D008297:Male; D010375:Pedigree; D016133:Polymerase Chain Reaction
D005938:Glucocorticoids