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.catalogadorvzp
dc.contributor.authorCarvajal Maldonado, Cristian Andrés
dc.contributor.authorTapia Castillo, Alejandra
dc.contributor.authorMartínez Aguayo, Alejandro Gregorio
dc.contributor.authorValdivia, Carolina
dc.contributor.authorCampino Johnson, María Del Carmen
dc.contributor.authorBaudrand Biggs, Rene Felipe
dc.contributor.authorAllende Sanzana, Fidel Alejandro
dc.contributor.authorPinochet Valenzuela, Constanza
dc.contributor.authorIturrieta González, Virginia Andrea
dc.contributor.authorLizama, Jaime
dc.contributor.authorSolari Gajardo, Sandra
dc.contributor.authorFardella Bello, Carlos Enrique
dc.date.accessioned2024-05-30T20:55:47Z
dc.date.available2024-05-30T20:55:47Z
dc.date.issued2016
dc.description.abstractObjective: 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.extent1 página
dc.fuente.origenWOS
dc.identifier.doi10.1097/01.hjh.0000500822.40592.64
dc.identifier.eissn1473-5598
dc.identifier.issn0263-6352
dc.identifier.urihttps://doi.org/10.1097/01.hjh.0000500822.40592.64
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/86111
dc.identifier.wosidWOS:000440372402103
dc.information.autorucEscuela de Medicina; Baudrand Biggs Rene Felipe; 0000-0002-8655-4957; 1024
dc.information.autorucEscuela de Medicina; Carvajal Maldonado Cristian Andres; 0000-0002-0668-412X; 8586
dc.information.autorucEscuela de Medicina; Tapia Castillo Alejandra; 0000-0002-6081-1468; 1012854
dc.information.autorucEscuela de Medicina; Martinez Aguayo Alejandro Gregorio; 0000-0002-1677-3513; 1003862
dc.information.autorucEscuela de Medicina; Campino Johnson Maria Del Carmen; S/I; 99519
dc.information.autorucEscuela de Medicina; Allende Sanzana Fidel Alejandro; 0000-0002-6508-4052; 1004550
dc.information.autorucEscuela de Medicina; Pinochet Valenzuela Constanza; S/I; 190227
dc.information.autorucEscuela de Medicina; Iturrieta Gonzalez Virginia Andrea; S/I; 238005
dc.information.autorucEscuela de Medicina; Solari Gajardo Sandra; 0000-0002-3185-4717; 1871
dc.information.autorucEscuela de Medicina; Fardella Bello Carlos Enrique; 0000-0002-5500-4434; 66235
dc.language.isoen
dc.nota.accesocontenido parcial
dc.pagina.finalE329
dc.pagina.inicioE329
dc.publisherLIPPINCOTT WILLIAMS & WILKINS
dc.rightsacceso restringido
dc.titlePS 10-19 Serum cortisone and cortisol/cortisone ratio as tool to identify subjects with severe and partial 11beta-hydroxysteroid dehydrogenase type 2 deficiencies
dc.typepóster de congreso
dc.volumen34
sipa.codpersvinculados1024
sipa.codpersvinculados8586
sipa.codpersvinculados1012854
sipa.codpersvinculados1003862
sipa.codpersvinculados99519
sipa.codpersvinculados1004550
sipa.codpersvinculados190227
sipa.codpersvinculados238005
sipa.codpersvinculados1871
sipa.codpersvinculados66235
sipa.trazabilidadWOS;05-06-2021
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