Marcadores de inflamación endotelial subclínica en una familia con hiperaldosteronismo familiar tipo I por mutación de novo / Subclinical endothelial inflammation markers in a family with type I familial hyperaldosteronism caused by a de novo mutation
Rev. méd. Chile
;
136(9): 1134-1140, sept. 2008. ilus, tab
Artículo
en Español
| LILACS
| ID: lil-497028
ABSTRACT
Background:
Type I familial hyperaldosteronism is caused by the presence of a chimaetic 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 andmethods:
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.Results:
All affected subjects had approximately a 50 percent 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 deleterious effect of aldosterone on the endothelium.
Texto completo:
Disponible
Índice:
LILACS (Américas)
Asunto principal:
Vasculitis
/
Proteína C-Reactiva
/
Endotelio Vascular
/
Metaloproteinasa 9 de la Matriz
/
Hiperaldosteronismo
/
Mutación
Tipo de estudio:
Estudios de evaluación
Límite:
Adolescente
/
Femenino
/
Humanos
/
Masculino
Idioma:
Español
Revista:
Rev. méd. Chile
Asunto de la revista:
Medicina
Año:
2008
Tipo del documento:
Artículo
/
Documento de proyecto
País de afiliación:
Chile
Institución/País de afiliación:
Pontificia Universidad Católica de Chile/CL
/
Universidad de Chile/CL
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