Marcadores de inflamación endotelial subclínica en una familia con hiperaldosteronismo familiar tipo I por mutación de novo

• Carlos B Stehr ^[1] ; Cristian A Carvajal ^[1] ; Patricia Lacourt ^[1] ; Hernán Alcaíno ^[2] ; Rosemarie Mellado ^[2] ; Andreína Cattani ^[1] ; Lorena M Mosso ^[1] ; Sergio Lavandera ^[2] ; Carlos E Fardella ^[1]
  1. [1] Pontificia Universidad Católica de Chile

     Pontificia Universidad Católica de Chile

     Santiago, Chile

     
  2. [2] Universidad de Chile

     Universidad de Chile

     Santiago, Chile

     
• Localización: Revista Médica de Chile, ISSN-e 0034-9887, Vol. 136, Nº. 9, 2008, págs. 1134-1140
• Idioma: español
• Títulos paralelos:
  • Subclinical endothelial inflammation markers in a family with type I familial hyperaldosteronism caused by a de novo mutation
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• Resumen

  • 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.