[Subclinical endothelial inflammation markers in a family with type I familial hyperaldosteronism caused by a de novo mutation].

BACKGROUND

Type I familial hyperaldosteronism is caused by the presence of a chimaeric gene CYPl 1B1/CYP11BZ which encodes an enzyme with aldosterone synthetase activity regulated by adrenocorticotrophic hormone (ACTH). Therefore, in patients with FH I is possible to normalize the aldosterone levels with glucocorticoid treatment. Recently it has been shown that aldosterone plays a role in the production of endothelial oxidative stress and subclinical inflammation.

AIM

To evaluate subclinical endothelial inflammation markers, like Metalloproteinase 9 (MMP-9) and ultrasensitive C reactive protein (usPCR), before and after glucocorticoid treatment in family members with FH-I caused by a de novo mutation.

PATIENTS AND METHODS

We report three subjects with FH-I in a single family (proband, father and sister). We confirmed the presence of a chimaeric CYPl 1B1/CYP11B2 gene by long-PCR in all of them. Paternal grandparents were unaffected by the mutation. The proband was a 13-year-old boy with hypertension stage 2 (in agree to The Joint National Committee VII, JNC-VII), with an aldosterone/plasma rennin activity ratio equal to 161. A DNA paternity test confirmed the parental relationship between the grandparents and father with the index case. MMP-9 and usPCR levels were determined by gelatin zymography and nephelometry, respectively.

RESULTS

All affected subjects had approximately a 50% increase in MMP-9 levels. Only the father had an elevated usPCR. The endothelial inflammation markers returned to normal range after glucocorticoid treatment.

CONCLUSIONS

We report a family carrying a FH-I caused by a de novo mutation. The elevation of endothelial inflammation markers in these patients and its normalization after glucocorticoid treatment provides new insight about the possible deleterious effect of aldosterone on the endothelium.