dc.creator | Stehr, Carlos B. | |
dc.creator | Carvajal, Cristián A. | |
dc.creator | Lacourt, Patricia | |
dc.creator | Alcaíno Olivares, Hernán Alejandro | |
dc.creator | Mellado, Rose Marie | |
dc.creator | Cattani, Andreína | |
dc.creator | Mosso, Lorena | |
dc.creator | Lavandero González, Sergio | |
dc.creator | Fardella, Carlos E. | |
dc.date.accessioned | 2010-03-25T20:23:23Z | |
dc.date.available | 2010-03-25T20:23:23Z | |
dc.date.created | 2010-03-25T20:23:23Z | |
dc.date.issued | 2008-09 | |
dc.identifier | REVISTA MEDICA DE CHILE 136(9): 1134-1140 | |
dc.identifier | 0034-9887 | |
dc.identifier | https://repositorio.uchile.cl/handle/2250/120902 | |
dc.description.abstract | Background: 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 adernocorticotrophic 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 menthods: 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 approxiamately 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 | |
dc.language | es | |
dc.publisher | SOC MEDICA SANTIAGO | |
dc.subject | Endothelium | |
dc.title | Subclinical endothelial inflammation markers in a family with type I familial hyperaldosteronism caused by a de novo mutation. Marcadores de inflamación endotelial subclínica en una familia con hiperaldosteronismo familiar tipo I por mutación del novo. | |
dc.type | Artículo de revista | |