Marcadores de inflamación endotelial subclínica en una familia con hiperaldosteronismo familiar tipo I por mutación de novo
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2008-09Metadata
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Stehr, Carlos B.
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Marcadores de inflamación endotelial subclínica en una familia con hiperaldosteronismo familiar tipo I por mutación de novo
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Abstract
Type I familial hyperaldosteronism is caused by the
presence of a chimaeric gene CYP11B1/CYP11B2 which encodes an enzyme with aldosterone
synthetase activity regulated by adrenocorticotrophic hormone (ACTH). Therefore, in patients with FHI
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 CYP11B1/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
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REVISTA MEDICA DE CHILE Volume: 136 Issue: 9 Pages: 1134-1140 Published: SEP 2008
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