Abstract-Familial hyperaldosteronism type 1 is an autosomal dominant disorder attributed to a chimeric CYP11B1/ CYP11B2 gene (CG). Its prevalence and manifestation in the pediatric population has not been established. We aimed to investigate the prevalence of familial hyperaldosteronism type 1 in Chilean hypertensive children and to describe their clinical and biochemical characteristics. We studied 130 untreated hypertensive children (4 to 16 years old). Blood samples for measuring plasma potassium, serum aldosterone, plasma renin activity, aldosterone/renin ratio, and DNA were collected. The detection of CG was performed using long-extension PCR. We found 4 (3.08%) of 130 children with CG who belonged to 4 unrelated families. The 4 patients with CG had very high aldosterone/renin ratio (49 to 242). In addition, we found 4 children and 5 adults who were affected among 21 first-degree relatives. Of the 8 affected children, 6 presented severe hypertension, 1 presented prehypertension, and 1 presented normotension. High serum aldosterone levels (Ͼ17.7 ng/dL) were detected in 6 of 8 subjects (range: 18.6 to 48.4 ng/dL) and suppressed plasma renin activity (Յ0.5 ng/mL per hour) and high aldosterone/renin ratio (Ͼ10) in 8 of 8 children (range: 49 to 242). Hypokalemia was observed in only 1 of 8 children. We demonstrated that the prevalence of familial hyperaldosteronism type 1 in a pediatric hypertensive pediatric population was surprisingly high. We found a high variability in the clinical and biochemical characteristics of the affected patients, which suggests that familial hyperaldosteronism type 1 is a heterogeneous disease with a wide spectrum of presentations even within the same family group. (Hypertension. 2011; 57:1117-1121.) • Online Data Supplement Key Words: arterial hypertension Ⅲ aldosterone Ⅲ familial hyperaldosteronism Ⅲ glucocorticoid-remediable aldosteronism Ⅲ children F amilial hyperaldosteronism type I (FH-I; Online Mendelian Inheritance in Man, No. 103900), which is also known as glucocorticoid-remediable aldosteronism, is often characterized by severe hypertension, variable hyperaldosteronism, low plasma renin activity (PRA), normal or decreased serum potassium, and abnormal adrenal steroid production, including 18-oxocortisol and 18-hydroxycortisol, in adults. 1 FH-I occurs because of an unequal crossing over of the genes that encode the steroid 11ß-hydroxylase (CYP11B1) and aldosterone synthase (CYP11B1) enzymes, which results in a chimeric CYP11B1/CYP11B2 gene (CG) with aldosterone synthase activity that is regulated by plasma adrenocorticotropic hormone levels instead of angiotensin II 2 ; this results in an ectopic expression of aldosterone synthase in the zone fasciculate. 3 FH-I is an autosomal dominant disorder, and different pedigrees exhibit different crossover patterns of the hybrid gene, which suggests that the mutations arose independently in each pedigree. 4 In the hypertensive adult population, this monogenic form of aldosteronism is thought to account for only 0.5% to 1.0% o...

The results of this study demonstrate an inverse association between birth weight and blood pressure and serum aldosterone and cortisol levels. This association is independent of BMI and Tanner, suggesting foetal programming of the hypothalamic-pituitary-adrenal axis.

Abstract-Primary aldosteronism is an important cause of secondary hypertension and is suspected in adults with an aldosterone/renin ratio Ն25. The normal aldosterone/renin ratio is unknown in children. The aim was to establish serum aldosterone, plasma renin activity, and aldosterone/renin ratio values in a healthy pediatric population. A cross-sectional study was performed in 211 healthy normotensive children (4 to 16 years old). Two subgroups of normotensive children were obtained: with hypertensive parents (NH) (nϭ113) and normotensive parents (nϭ98). Blood samples for measuring serum aldosterone, plasma renin activity, aldosterone/renin ratio, and DNA were collected. In subjects with aldosterone/renin ratio Ն25, the chimeric CYP11B1/CYP11B2 gene was investigated by long-extension PCR. Key Words: primary aldosteronism Ⅲ plasma renin activity Ⅲ arterial hypertension Ⅲ aldosterone/plasma renin activity ratio P rimary aldosteronism (PA) has been recognized as a cause of hypertension since the 1950s. When the first case was reported, one of the most important characteristics was the presence of a severe hypertensive profile associated with hypokalemia.