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
Article
de Es
| LILACS
| ID: lil-612508
Bibliothèque responsable:
CL1.1
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.
Texte intégral:
1
Indice:
LILACS
Sujet Principal:
Stress oxydatif
/
Glucocorticoïdes
/
Hyperaldostéronisme
Limites du sujet:
Adolescent
/
Humans
/
Male
langue:
Es
Texte intégral:
Rev. chil. endocrinol. diabetes
/
Revista chilena de endocrinología y diabetes
Thème du journal:
ENDOCRINOLOGIA
Année:
2008
Type:
Article