Marcadores de inflamación endotelial subclínica en una familia con hiperaldosteronismo familiar tipo I por mutación de novo
Background: Type I familial hyperaldosteronism is caused by the presence of a chimaeñc gene CYPl 1B1/CYP11BZ which encodes an enzyme with aldosterone synthetase activityregulated by adrenocorticotrophic hormone (ACTH). Therefore, in patients with FH I is possible to normalize the aldosterone levels...
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Sociedad Médica de Santiago
2008
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oai:scielo:S0034-988720080009000072008-11-12Marcadores de inflamación endotelial subclínica en una familia con hiperaldosteronismo familiar tipo I por mutación de novoStehr,Carlos BCarvajal,Cristian ALacourt,PatriciaAlcaíno,HernánMellado,RosemarieCattani,AndreínaMosso,Lorena MLavandera,SergioFardella,Carlos E C-reactive protein Endothelium, vascular Hyperaldosteronism MMP-9 metalloproteinase Background: Type I familial hyperaldosteronism is caused by the presence of a chimaeñc gene CYPl 1B1/CYP11BZ which encodes an enzyme with aldosterone synthetase activityregulated 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, Me 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 ¡ong-PCR in all of them. Paternal grandparents were unaffected by the mutation. The proband was a 13year-old boy with hypertension stage 2 (in agree to The JointNational Committee VII, JNC-vIl), 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. Residís: 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 canying 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 deleteríous effect of aldosterone on the endothelium.info:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.136 n.9 20082008-09-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872008000900007es10.4067/S0034-98872008000900007 |
| institution |
Scielo Chile |
| collection |
Scielo Chile |
| language |
Spanish / Castilian |
| topic |
C-reactive protein Endothelium, vascular Hyperaldosteronism MMP-9 metalloproteinase |
| spellingShingle |
C-reactive protein Endothelium, vascular Hyperaldosteronism MMP-9 metalloproteinase Stehr,Carlos B Carvajal,Cristian A Lacourt,Patricia Alcaíno,Hernán Mellado,Rosemarie Cattani,Andreína Mosso,Lorena M Lavandera,Sergio Fardella,Carlos E Marcadores de inflamación endotelial subclínica en una familia con hiperaldosteronismo familiar tipo I por mutación de novo |
| description |
Background: Type I familial hyperaldosteronism is caused by the presence of a chimaeñc gene CYPl 1B1/CYP11BZ which encodes an enzyme with aldosterone synthetase activityregulated 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, Me 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 ¡ong-PCR in all of them. Paternal grandparents were unaffected by the mutation. The proband was a 13year-old boy with hypertension stage 2 (in agree to The JointNational Committee VII, JNC-vIl), 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. Residís: 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 canying 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 deleteríous effect of aldosterone on the endothelium. |
| author |
Stehr,Carlos B Carvajal,Cristian A Lacourt,Patricia Alcaíno,Hernán Mellado,Rosemarie Cattani,Andreína Mosso,Lorena M Lavandera,Sergio Fardella,Carlos E |
| author_facet |
Stehr,Carlos B Carvajal,Cristian A Lacourt,Patricia Alcaíno,Hernán Mellado,Rosemarie Cattani,Andreína Mosso,Lorena M Lavandera,Sergio Fardella,Carlos E |
| author_sort |
Stehr,Carlos B |
| title |
Marcadores de inflamación endotelial subclínica en una familia con hiperaldosteronismo familiar tipo I por mutación de novo |
| title_short |
Marcadores de inflamación endotelial subclínica en una familia con hiperaldosteronismo familiar tipo I por mutación de novo |
| title_full |
Marcadores de inflamación endotelial subclínica en una familia con hiperaldosteronismo familiar tipo I por mutación de novo |
| title_fullStr |
Marcadores de inflamación endotelial subclínica en una familia con hiperaldosteronismo familiar tipo I por mutación de novo |
| title_full_unstemmed |
Marcadores de inflamación endotelial subclínica en una familia con hiperaldosteronismo familiar tipo I por mutación de novo |
| title_sort |
marcadores de inflamación endotelial subclínica en una familia con hiperaldosteronismo familiar tipo i por mutación de novo |
| publisher |
Sociedad Médica de Santiago |
| publishDate |
2008 |
| url |
http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872008000900007 |
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