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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
Stehr, Carlos B; Carvajal, Cristian A; Lacourt, Patricia; Alcaíno, Hernán; Mellado, Rosemarie; Cattani, Andreína; Mosso, Lorena M; Lavandero, Sergio; Fardella, Carlos E.
Afiliação
  • Stehr, Carlos B; Pontificia Universidad Católica de Chile. Facultad de Medicina. Departamento de Endocrinología. CL
  • Carvajal, Cristian A; Pontificia Universidad Católica de Chile. Facultad de Medicina. Departamento de Endocrinología. CL
  • Lacourt, Patricia; Pontificia Universidad Católica de Chile. Facultad de Medicina. Departamento de Pediatría. Unidad de Endocrinología Infantil. CL
  • Alcaíno, Hernán; Universidad de Chile. Facultad de Ciencias Químicas y Farmacéuticas. Centro FONDAP Estudios Moleculares de la Célula. Santiago. CL
  • Mellado, Rosemarie; Universidad de Chile. Facultad de Ciencias Químicas y Farmacéuticas. Centro FONDAP Estudios Moleculares de la Célula. Santiago. CL
  • Cattani, Andreína; Pontificia Universidad Católica de Chile. Facultad de Medicina. Departamento de Pediatría. Unidad de Endocrinología Infantil. CL
  • Mosso, Lorena M; Pontificia Universidad Católica de Chile. Facultad de Medicina. Departamento de Endocrinología. CL
  • Lavandero, Sergio; Universidad de Chile. Facultad de Ciencias Químicas y Farmacéuticas. Centro FONDAP Estudios Moleculares de la Célula. Santiago. CL
  • Fardella, Carlos E; Pontificia Universidad Católica de Chile. Facultad de Medicina. Departamento de Endocrinología. CL
Rev. méd. Chile ; 136(9): 1134-1140, sept. 2008. ilus, tab
Article em Es | LILACS | ID: lil-497028
Biblioteca responsável: BR1.1
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 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.

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.
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Texto completo: 1 Índice: LILACS Assunto principal: Vasculite / Proteína C-Reativa / Endotélio Vascular / Metaloproteinase 9 da Matriz / Hiperaldosteronismo / Mutação Tipo de estudo: Evaluation_studies Limite: Adolescent / Female / Humans / Male Idioma: Es Revista: Rev. méd. Chile Assunto da revista: MEDICINA Ano de publicação: 2008 Tipo de documento: Article / Project document
Texto completo: 1 Índice: LILACS Assunto principal: Vasculite / Proteína C-Reativa / Endotélio Vascular / Metaloproteinase 9 da Matriz / Hiperaldosteronismo / Mutação Tipo de estudo: Evaluation_studies Limite: Adolescent / Female / Humans / Male Idioma: Es Revista: Rev. méd. Chile Assunto da revista: MEDICINA Ano de publicação: 2008 Tipo de documento: Article / Project document