title: Frequency of familial hyperaldosteronism type 1 in a hypertensive pediatric population: clinical and biochemical presentation.
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 (>17.7 ng/dL) were detected in 6 of 8 subjects (range: 18.6 to 48.4 ng/dL) and suppressed plasma renin activity (≤0.5 ng/mL per hour) and high aldosterone/renin ratio (>10) 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.
authors.affiliation: Division of Pediatrics, Pontificia Universidad Católica de Chile, Santiago, Chile.
authors.forename: Marlene
authors.initials: M
authors.lastname: Aglony
authors.forename: Alejandro
authors.initials: A
authors.lastname: Martínez-Aguayo
authors.forename: Cristian A
authors.initials: CA
authors.lastname: Carvajal
authors.forename: Carmen
authors.initials: C
authors.lastname: Campino
authors.forename: Hernán
authors.initials: H
authors.lastname: García
authors.forename: Rodrigo
authors.initials: R
authors.lastname: Bancalari
authors.forename: Lillian
authors.initials: L
authors.lastname: Bolte
authors.forename: Carolina
authors.initials: C
authors.lastname: Avalos
authors.forename: Carolina
authors.initials: C
authors.lastname: Loureiro
authors.forename: Pamela
authors.initials: P
authors.lastname: Trejo
authors.forename: Karin
authors.initials: K
authors.lastname: Brinkmann
authors.forename: Vinka
authors.initials: V
authors.lastname: Giadrosich
authors.forename: Verónica
authors.initials: V
authors.lastname: Mericq
authors.forename: Ana
authors.initials: A
authors.lastname: Rocha
authors.forename: Alejandra
authors.initials: A
authors.lastname: Avila
authors.forename: Viviana
authors.initials: V
authors.lastname: Perez
authors.forename: Andrea
authors.initials: A
authors.lastname: Inostroza
authors.forename: Carlos E
authors.initials: CE
authors.lastname: Fardella
mesh_terms: D000293:Adolescent; D000328:Adult; D000450:Aldosterone / Q000097:blood; D001794:Blood Pressure / Q000502:physiology*; D002648:Child; D002675:Child, Preschool; D002677:Chile / Q000453:epidemiology; D015897:Comorbidity; D003430:Cross-Sectional Studies; D019405:Cytochrome P-450 CYP11B2 / Q000235:genetics; D005192:Family Health; D050939:Gene Fusion / Q000235:genetics; D006801:Humans; D006929:Hyperaldosteronism / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D006973:Hypertension / Q000097:blood / Q000453:epidemiology / Q000503:physiopathology*; D016133:Polymerase Chain Reaction; D011188:Potassium / Q000097:blood; D015995:Prevalence; D012083:Renin / Q000097:blood; D013252:Steroid 11-beta-Hydroxylase / Q000235:genetics
chemical_list: D000450:Aldosterone; D019405:Cytochrome P-450 CYP11B2; D013252:Steroid 11-beta-Hydroxylase; D012083:Renin; D011188:Potassium