PS 10-19 Serum cortisone and cortisol/cortisone ratio as tool to identify subjects with severe and partial 11beta-hydroxysteroid dehydrogenase type 2 deficiencies
dc.catalogador | vzp | |
dc.contributor.author | Carvajal Maldonado, Cristian Andrés | |
dc.contributor.author | Tapia Castillo, Alejandra | |
dc.contributor.author | Martínez Aguayo, Alejandro Gregorio | |
dc.contributor.author | Valdivia, Carolina | |
dc.contributor.author | Campino Johnson, María Del Carmen | |
dc.contributor.author | Baudrand Biggs, Rene Felipe | |
dc.contributor.author | Allende Sanzana, Fidel Alejandro | |
dc.contributor.author | Pinochet Valenzuela, Constanza | |
dc.contributor.author | Iturrieta González, Virginia Andrea | |
dc.contributor.author | Lizama, Jaime | |
dc.contributor.author | Solari Gajardo, Sandra | |
dc.contributor.author | Fardella Bello, Carlos Enrique | |
dc.date.accessioned | 2024-05-30T20:55:47Z | |
dc.date.available | 2024-05-30T20:55:47Z | |
dc.date.issued | 2016 | |
dc.description.abstract | Objective: To report the phenotype of patients with AME by clinical and biochemical study, and expanding the study to their families and unrelated subjects to assess the value of F/E ratio as a biomarker partial deficiency of 11βHSD2.Design and Method: We evaluated 2 AME patients and their families. Family 1: A 17 years-old male with a homozygous Asp223Asn (D223N) mutation in HSD11B2, his mother (33 years) and sister (8 years); and Family 2: A 2 years-old girl with a homozygous Arg213Cys (R213C) mutation in HSD11B2, his father (30 years), her mother (30 years) and sister (6 years). We measured serum potassium, aldosterone, plasma renin activity (PRA), microalbuminuria, NGAL and F/E ratio (HPLC-MS). Reference ranges (RR), percentiles (p) and cut-off points for F, E and F/E serum were determined on data obtained from adult and pediatric normotensive subjects (F/E children RR: 1.63 to 5.15 and F/E adults RR:2.6–7.8]). Genetic analyses were performed by PCR-HRM and DNA sequencing.Results: Family 1: Index case (mut D223N) with classical AME features and a high serum F/E ratio (28.8 (> p99)). His mother and sister were normotensive and heterozygous for the same mutation D223N without clinical and biochemical abnormalities but with high F/E ratios (13.1 (p97) and 7.4 (p97)), respectively). Family 2: Index case (mut R213C) with classical AME and and a high F/E (175 (>p99)). His father, mother and sister were heterozygous for R123C, and are clinically and biochemically normal except for high F/E ratios (p92, p93 and p85, respectively).Conclusions: A F/E ratio greater than p90 –often associated to a cortisone lesser than p30- in relatives of subjects with AME suggests that partial heterozygous alterations or deficit in HSD11B2 are able to be identified by studying the serum cortisone and F/E ratio without prior clinical or biochemical features of classic AME such as AH, suppressed PRA and hypokalemia. | |
dc.format.extent | 1 página | |
dc.fuente.origen | WOS | |
dc.identifier.doi | 10.1097/01.hjh.0000500822.40592.64 | |
dc.identifier.eissn | 1473-5598 | |
dc.identifier.issn | 0263-6352 | |
dc.identifier.uri | https://doi.org/10.1097/01.hjh.0000500822.40592.64 | |
dc.identifier.uri | https://repositorio.uc.cl/handle/11534/86111 | |
dc.identifier.wosid | WOS:000440372402103 | |
dc.information.autoruc | Escuela de Medicina; Baudrand Biggs Rene Felipe; 0000-0002-8655-4957; 1024 | |
dc.information.autoruc | Escuela de Medicina; Carvajal Maldonado Cristian Andres; 0000-0002-0668-412X; 8586 | |
dc.information.autoruc | Escuela de Medicina; Tapia Castillo Alejandra; 0000-0002-6081-1468; 1012854 | |
dc.information.autoruc | Escuela de Medicina; Martinez Aguayo Alejandro Gregorio; 0000-0002-1677-3513; 1003862 | |
dc.information.autoruc | Escuela de Medicina; Campino Johnson Maria Del Carmen; S/I; 99519 | |
dc.information.autoruc | Escuela de Medicina; Allende Sanzana Fidel Alejandro; 0000-0002-6508-4052; 1004550 | |
dc.information.autoruc | Escuela de Medicina; Pinochet Valenzuela Constanza; S/I; 190227 | |
dc.information.autoruc | Escuela de Medicina; Iturrieta Gonzalez Virginia Andrea; S/I; 238005 | |
dc.information.autoruc | Escuela de Medicina; Solari Gajardo Sandra; 0000-0002-3185-4717; 1871 | |
dc.information.autoruc | Escuela de Medicina; Fardella Bello Carlos Enrique; 0000-0002-5500-4434; 66235 | |
dc.language.iso | en | |
dc.nota.acceso | contenido parcial | |
dc.pagina.final | E329 | |
dc.pagina.inicio | E329 | |
dc.publisher | LIPPINCOTT WILLIAMS & WILKINS | |
dc.rights | acceso restringido | |
dc.title | PS 10-19 Serum cortisone and cortisol/cortisone ratio as tool to identify subjects with severe and partial 11beta-hydroxysteroid dehydrogenase type 2 deficiencies | |
dc.type | póster de congreso | |
dc.volumen | 34 | |
sipa.codpersvinculados | 1024 | |
sipa.codpersvinculados | 8586 | |
sipa.codpersvinculados | 1012854 | |
sipa.codpersvinculados | 1003862 | |
sipa.codpersvinculados | 99519 | |
sipa.codpersvinculados | 1004550 | |
sipa.codpersvinculados | 190227 | |
sipa.codpersvinculados | 238005 | |
sipa.codpersvinculados | 1871 | |
sipa.codpersvinculados | 66235 | |
sipa.trazabilidad | WOS;05-06-2021 |