Frequency of Familial Hyperaldosteronism Type 1 in a Hypertensive Pediatric Population Clinical and Biochemical Presentation

Simple item page
dc.contributor.authorAglony, Marlene
dc.contributor.authorMartinez Aguayo, Alejandro
dc.contributor.authorCarvajal, Cristian A.
dc.contributor.authorCampino, Carmen
dc.contributor.authorGarcia, Hernan
dc.contributor.authorBancalari, Rodrigo
dc.contributor.authorBolte, Lillian
dc.contributor.authorAvalos, Carolina
dc.contributor.authorLoureiro, Carolina
dc.contributor.authorTrejo, Pamela
dc.contributor.authorBrinkmann, Karin
dc.contributor.authorGiadrosich, Vinka
dc.contributor.authorMericq, Veronica
dc.contributor.authorRocha, Ana
dc.contributor.authorAvila, Alejandra
dc.contributor.authorPerez, Viviana
dc.contributor.authorInostroza, Andrea
dc.contributor.authorFardella, Carlos E.
dc.date.accessioned2024-01-10T13:48:34Z
dc.date.available2024-01-10T13:48:34Z
dc.date.issued2011
dc.description.abstractFamilial 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. (Hypertension. 2011;57:1117-1121.). Online Data Supplement
dc.description.funderChilean Grants FONDECYT
dc.description.funderFONDEF
dc.description.funderNMII
dc.description.funderBecas-Chile
dc.description.funderPontificia Universidad Catolica de Chile
dc.fechaingreso.objetodigital2024-05-20
dc.format.extent15 páginas
dc.fuente.origenWOS
dc.identifier.doi10.1161/HYPERTENSIONAHA.110.168740
dc.identifier.eissn1524-4563
dc.identifier.issn0194-911X
dc.identifier.pubmedidMEDLINE:21502562
dc.identifier.urihttps://doi.org/10.1161/HYPERTENSIONAHA.110.168740
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/79377
dc.identifier.wosidWOS:000290710800024
dc.information.autorucMedicina;Aglony M;S/I;1273
dc.information.autorucMedicina;Bolte L ;S/I;18472
dc.information.autorucMedicina;Campino C ;S/I;99519
dc.information.autorucMedicina;Carvajal C ;S/I;8586
dc.information.autorucMedicina;Fardella C ;S/I;66235
dc.information.autorucMedicina;Garcia H ;S/I;1006495
dc.information.autorucMedicina;Inostroza A;S/I;114125
dc.information.autorucMedicina;Loureiro C;S/I;126948
dc.information.autorucMedicina;Martinez-Aguayo A;S/I;1003862
dc.information.autorucMedicina;Perez V ;S/I;80854
dc.information.autorucMedicina;Trejo P;S/I;3492
dc.issue.numero6
dc.language.isoen
dc.nota.accesocontenido parcial
dc.publisherLIPPINCOTT WILLIAMS & WILKINS
dc.revistaHYPERTENSION
dc.rightsacceso restringido
dc.subjectarterial hypertension
dc.subjectaldosterone
dc.subjectfamilial hyperaldosteronism
dc.subjectglucocorticoid-remediable aldosteronism
dc.subjectchildren
dc.subjectGLUCOCORTICOID-REMEDIABLE ALDOSTERONISM
dc.subjectPLASMA-RENIN ACTIVITY
dc.subjectCOMMITTEE
dc.subjectCHILDREN
dc.subjectGRA
dc.subject.ods03 Good Health and Well-being
dc.subject.odspa03 Salud y bienestar
dc.titleFrequency of Familial Hyperaldosteronism Type 1 in a Hypertensive Pediatric Population Clinical and Biochemical Presentation
dc.typeartículo
dc.volumen57
sipa.codpersvinculados1273
sipa.codpersvinculados18472
sipa.codpersvinculados99519
sipa.codpersvinculados8586
sipa.codpersvinculados66235
sipa.codpersvinculados1006495
sipa.codpersvinculados114125
sipa.codpersvinculados126948
sipa.codpersvinculados1003862
sipa.codpersvinculados80854
sipa.codpersvinculados3492
sipa.indexWOS
sipa.indexScopus
sipa.trazabilidadCarga SIPA;09-01-2024
Files
Original bundle
Now showing 1 - 1 of 1
Thumbnail Image
Name:
Frequency of familial hyperaldosteronism type 1 in a hypertensive pediatric population - clinical and biochemical presentation.pdf
Size:
3.29 KB
Format:
Adobe Portable Document Format
Description:
Download
Collections
Artículos de revistas