Browsing by Author "Tapia Castillo, Alejandra"

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    Aldosterona e IL-17 en la génesis de la hipertensión arterial mineralocorticoídea, un estudio ex vivo
    (2016) Vecchiola Cárdenas, Andrea Paola; Cristóbal Fuentes, Z.; Muñoz Durango, Natalia; Tapia Castillo, Alejandra; González Gómez, Luis M.; Baudrand Biggs, René; Carvajal Maldonado, Cristián Andrés; Campino Johnson, María del Carmen; Kalergis Parra, Alexis Mikes; Carlos, F.; Lagos, A.; Fardella B., Carlos; Vecchiola Cárdenas, Andrea Paola; Cristóbal Fuentes, Z.; Muñoz Durango, Natalia; Tapia Castillo, Alejandra; González Gómez, Luis M.; Baudrand Biggs, René; Carvajal Maldonado, Cristián Andrés; Campino Johnson, María del Carmen; Kalergis Parra, Alexis Mikes; Carlos, F.; Lagos, A.; Fardella B., Carlos
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    Citosine-Adenine-Repeat Microsatellite of 11 beta-hydroxysteroid dehydrogenase 2 Gene in Hypertensive Children
    (OXFORD UNIV PRESS, 2016) Valdivia, Carolina; Carvajal, Cristian A.; Campino, Carmen; Allende, Fidel; Martinez Aguayo, Alejandro; Baudrand, Rene; Vecchiola, Andrea; Lagos, Carlos F.; Tapia Castillo, Alejandra; Fuentes, Cristobal A.; Aglony, Marlene; Solari, Sandra; Kalergis, Alexis M.; Garcia, Hernan; Owen, Gareth I.; Fardella, Carlos E.
    BACKGROUND
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    Clinical, Biochemical, and Genetic Characteristics of "Nonclassic" Apparent Mineralocorticoid Excess Syndrome
    (2019) Tapia Castillo, Alejandra; Baudrand Biggs, René; Vaidya, Anand; Campino Johnson, María del Carmen; Allende, Fidel; Carvajal Maldonado, Cristián Andrés; Vecchiola Cárdenas, Andrea Paola; Lagos Arévalo, Carlos Fernando; Fuentes Zúñiga, Cristóbal Andrés; Fardella B., Carlos; Solari, Sandra; Martínez Aguayo, Alejandro Gregorio; García Bruce, Hernán; Valdivia, Carolina; Tapia Castillo, Alejandra; Baudrand Biggs, René; Vaidya, Anand; Campino Johnson, María del Carmen; Allende, Fidel; Carvajal Maldonado, Cristián Andrés; Vecchiola Cárdenas, Andrea Paola; Lagos Arévalo, Carlos Fernando; Fuentes Zúñiga, Cristóbal Andrés; Fardella B., Carlos; Solari, Sandra; Martínez Aguayo, Alejandro Gregorio; García Bruce, Hernán; Valdivia, Carolina
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    Hypertensive Patients That Respond to Aldosterone Antagonists May Have a Nonclassical 11β-HSD2 Deficiency.
    (2017) Tapia Castillo, Alejandra; Carvajal Maldonado, Cristián Andrés; Allende, Fidel; Campino Johnson, María del Carmen; Fardella B., Carlos
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    Polymorphisms in the RAC1 Gene Are Associated With Hypertension Risk Factors in a Chilean Pediatric Population
    (OXFORD UNIV PRESS, 2014) Tapia Castillo, Alejandra; Carvajal, Cristian A.; Campino, Carmen; Vecchiola, Andrea; Allende, Fidel; Solari, Sandra; Garcia, Lorena; Lavanderos, Sergio; Valdivia, Carolina; Fuentes, Cristobal; Lagos, Carlos F.; Martinez Aguayo, Alejandro; Baudrand, Rene; Aglony, Marlene; Garcia, Hernan; Fardella, Carlos E.
    The GTPase Rac1 has been implicated in hypertension as a modulator of mineralocorticoid receptor activity. Our aim is to investigate the frequency of polymorphisms rs10951982 (intron 1, G > A) and rs836478 (intron 3, T > C) in the RAC1 gene and perform association studies with clinical and biochemical parameters in a Chilean pediatric cohort.
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    Progressive 11β-hydroxysteroid dehydrogenase type 2 insufficiency as kidney function declines
    (2024) Uslar N., Thomas; Newman, Andrew J.; Tapia Castillo, Alejandra; Carvajal Maldonado, Cristián Andrés; Fardella B., Carlos; Allende, Fidel; Solari, Sandra; Tsai, Laura C.; Milks, Julia; Cherney, Michael; Stouffer, David G.; Auchus, Richard; Brown, Jenifer M.; Baudrand Biggs, René; Vaidya, Anand
    Background It has been postulated that chronic kidney disease (CKD) is a state of relative 11 beta-hydroxysteroid dehydrogenase type 2 (11 beta HSD2) insufficiency, resulting in increased cortisol-mediated mineralocorticoid receptor (MR) activation. We hypothesized that relative 11 beta HSD2 insufficiency manifests across a wide spectrum of progressively declining kidney function, including within the normal range. Methods Adult participants were recruited at 2 academic centers. A discovery cohort (n = 500) enrolled individuals with estimated glomerular filtration rate (eGFR) ranging from normal to CKD stage 5, in whom serum cortisol-to-cortisone (F/E) was measured as a biomarker of 11 beta HSD2 activity. A validation cohort (n = 101) enrolled only individuals with normal kidney function (eGFR >= 60 mL/min/1.73 m(2)) in whom 11 beta HSD2 activity was assessed via serum F/E and 11-hydroxy-to-11-keto androgen (11OH/K) ratios following multiple maneuvers: oral sodium suppression test, dexamethasone suppression test (DST), and ACTH-stimulation test (ACTHstim). Results In the discovery cohort, lower eGFR was associated with higher F/E (P-trend < .001). Similarly, in the validation cohort, with normal eGFR, an inverse association between eGFR and both F/E and 11OH/K ratios was observed (P-trend < .01), which persisted following DST (P-trend < .001) and ACTHstim (P-trend < .05). The fractional excretion of potassium, a marker of renal MR activity, was higher with higher F/E (P-trend < .01) and with lower eGFR (P-trend < .0001). Conclusion A continuum of declining 11 beta HSD2 activity was observed with progressively lower eGFR in individuals spanning a wide spectrum of kidney function, including those with apparently normal kidney function. These findings implicate cortisol-mediated MR activation in the pathophysiology of hypertension and cardiovascular disease in CKD.
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    PS 10-19 Serum cortisone and cortisol/cortisone ratio as tool to identify subjects with severe and partial 11beta-hydroxysteroid dehydrogenase type 2 deficiencies
    (LIPPINCOTT WILLIAMS & WILKINS, 2016) Carvajal Maldonado, Cristian Andrés; Tapia Castillo, Alejandra; Martínez Aguayo, Alejandro Gregorio; Valdivia, Carolina; Campino Johnson, María Del Carmen; Baudrand Biggs, Rene Felipe; Allende Sanzana, Fidel Alejandro; Pinochet Valenzuela, Constanza; Iturrieta González, Virginia Andrea; Lizama, Jaime; Solari Gajardo, Sandra; Fardella Bello, Carlos Enrique
    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.
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    Serum cortisol and cortisone as potential biomarkers of partial 11β-hydroxysteroid dehydrogenase type 2 deficiency
    (2018) Carvajal Maldonado, Cristián Andrés; Tapia Castillo, Alejandra; Valdivia, Carolina P.; Allende, Fidel; Solari Gajardo, Sandra; Lagos Arévalo, Carlos Fernando; Campino Johnson, María del Carmen; Martínez Aguayo, Alejandro Gregorio; Vecchiola Cárdenas, Andrea Paola; Pinochet, Constanza
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    Sodium intake is associated with endothelial damage biomarkers and metabolic dysregulation
    (2018) Campino Johnson, María del Carmen; Baudrand Biggs, René; Valdivia, Carolina A.; Carvajal Maldonado, Cristián Andrés; Vecchiola Cárdenas, Andrea Paola; Tapia Castillo, Alejandra; Martínez Aguayo, Alejandro Gregorio; García Bruce, Hernán; García, Lorena; Allende, Fidel
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    The Expression of RAC1 and Mineralocorticoid Pathway-Dependent Genes are Associated With Different Responses to Salt Intake
    (2015) Tapia Castillo, Alejandra; Carvajal Maldonado, Cristián Andrés; Campino Johnson, María del Carmen; Hill, Caroline; Allende, Fidel; Vecchiola Cárdenas, Andrea Paola; Martínez Aguayo, Alejandro Gregorio; García Bruce, Hernán; Baudrand Biggs, René; Kalergis Parra, Alexis Mikes; Fardella B., Carlos; Tapia Castillo, Alejandra; Carvajal Maldonado, Cristián Andrés; Campino Johnson, María del Carmen; Hill, Caroline; Allende, Fidel; Vecchiola Cárdenas, Andrea Paola; Martínez Aguayo, Alejandro Gregorio; García Bruce, Hernán; Baudrand Biggs, René; Kalergis Parra, Alexis Mikes; Fardella B., Carlos