Variabilidad fenotípica y estrés oxidativo endotelial en una familia con hiperaldosteronismo familiar tipo I / Phenotypical variability and endothelial oxidative stress in a family with type I familial hyperaldosteronism
Rev. chil. endocrinol. diabetes
;
1(1): 18-23, ene. 2008. ilus, tab
Artigo
em Espanhol
| LILACS
| ID: lil-612508
ABSTRACT
Type I familial hyperaldosteronism (HAF-I) is caused by the presence of a chimeric gene CYP11B1/CYP11B2 which encodes an enzyme with aldosterone synthetase activity regulated by ACTH. HAF-I patients present with severe hypertension at young ages and a greater risk of stroke. AIM:
To characterize clinical and biochemical presentation of family members with HAF-I. To evaluate endothelial oxidative stress markers before and after glucocorticoid treatment. PATIENTS ANDMETHODS:
We evaluated three family members with HAF-I confirmed with a genetic test (XL-PCR) for chimeric gene CYP11B1/CYP11B2. The index case was a 13 years old boy with stage 2 hypertension (Joint National Committee VIIth report), plasma aldosterone/ plasma renin activity (AP/ARP) ratio of161 and normal plasma potassium. His father had primary hyperaldosteronism diagnosed at 25 years of age with hypertension and hypokalemia. His sister was 15 years old, with a normal blood pressure and an AP/ARP ratio of 37.6.RESULTS:
All subjects had plasma xanthine-oxidase levels in the upperlimit of normal. Malondialdehyde was above normal in the index case and his father. These markers returned to normal with glucocorticoid treatment.CONCLUSIONS:
We report a HAF-I carrying family with a wide phenotypical variability between affected members. Elevation of endothelial oxidativestress markers and its normalization after glucocorticoid treatment, may indicate that aldosterone produces endothelial damage and increases cardiovascular risk.
Texto completo:
DisponíveL
Índice:
LILACS (Américas)
Assunto principal:
Estresse Oxidativo
/
Glucocorticoides
/
Hiperaldosteronismo
Limite:
Adolescente
/
Humanos
/
Masculino
Idioma:
Espanhol
Revista:
Rev. chil. endocrinol. diabetes
Assunto da revista:
Endocrinologia
Ano de publicação:
2008
Tipo de documento:
Artigo
País de afiliação:
Chile
Instituição/País de afiliação:
Pontificia Universidad Católica de Chile/CL
/
Universidad de Chile/CL
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