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Endocrinología, Metabolismo, Nutrición y Enfermedades Renales »
Grupo Enfermedades Renales Hereditarias y Raras
Jefe de Grupo
María Gema Ariceta Iraola
Jefe de Sección de Nefrología Pediátrica
Profesora Laboral Interina de Pediatría UPV/EHU
Hospital Universitario Cruces
Código QR Contacto
Contacto:
(0034)-94.600.6000
Aguirre Meñica, Mireia
Ariceta Iraola, María Gema
Madariaga Domínguez, Leire
Sáez Garmendia, Fermín

El grupo de investigación es un grupo de relativa nueva creación, e integra investigadores clínicos y básicos. Las áreas de investigación son las siguientes: el estudio del fenotipo-genotipo de enfermedades raras renales de causa hereditaria; los factores tradicionales y no tradicionales causantes de riesgo vascular en enfermedad renal crónica y trasplante renal en la población pediátrica. Así mismo, existe una línea muy activa de investigación clínica, multicéntrica, con cooperación internacional, orientada a los pacientes pediátricos en diálisis crónica, y también al síndrome hemolítico-urémico de causa genética.

El grupo ha recibido este año el Premio Merck Serono de Investigación 2011 en el área de investigación en bases moleculares de las enfermedades raras y sus implicaciones clínicas por el proyecto titulado: "Estudio clínico molecular de tubulopatías primarias".

Tubulopatías
Enfermedad renal crónica hereditaria
Enfermedades renales raras
Síndrome Hemolítico Urémico atípico
Riesgo cardiovascular en enfermedad renal crónica en pediatría
Trasplante renal pediátrico
Laboratorio de investigación en genética molecular. Hospital Universitario Cruces y Universidad del País Vasco (UPV/EHU) - Dr. Luis A. Castaño G.
Laboratorio de Metabolismo. Hospital Universitario Cruces y Universidad del País Vasco (UPV/EHU) - Dr. Pablo Sanjurjo y Dr. Luis Aldámiz-Echevarria
Radiología Pediátrica. Hospital Universitario Cruces y Universidad del País Vasco (UPV/EHU) - Dr. Fermín Saez
Nefrología Pediátrica. Hospital Universitario Donostia. San Sebastián. - Dr. Ramón Areses
Centro Superior de Investigaciones Biológicas. Madrid - Santiago Rodríguez de Córdoba
Enfermedades renales hereditarias. Fundación Puigvert Barcelona - Dra. Roser Torra
Division of Kidney Diseases. Children´s Memorial Hospital. Feinberg School of Medicine. Northwestern University. Chicago, IL (USA) - Dr. Craig B. Langman
Nephrology and Hypertension. Northwestern Memorial. Feinberg School of Medicine. Northwestern University. Chicago, IL. (USA) - Dr. Daniel Batlle
European Pediatric Working Group for Hemolytic Uremic Syndrome
European Pediatric Peritoneal Dialysis Working Group
International Pediatric Peritoneal Dialysis Network (IPPN)
Laboratorio de Investigación de Enfermedades Renales Hereditarias. Hospital Clínico Universitario de Santiago de Compostela - Dr. Miguel García

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El Hayek D, Bouzidi H, Pérez de Nanclares G, Soua H, Chibani JB, Ariceta G, et al. Novel ATP6V0A4 mutation described in a Tunisian patient with distal renal tubular acidosis. Clin Nephrol. 2014 Feb;81(2):142-5
Harambat J, Bonthuis M, van Stralen KJ, Ariceta G, Battelino N, Bjerre A, et al. Adult height in patients with advanced CKD requiring renal replacement therapy during childhood. Clin J Am Soc Nephrol. 2014 Jan;9(1):92-9
Watson AR, Hayes WN, Vondrak K, Ariceta G, Schmitt CP, Ekim M, et al. Factors influencing choice of renal replacement therapy in European Paediatric Nephrology Units. Pediatr Nephrol. 2013 Dec;28(12):2361-8
Elhayek D, Perez G, Chouchane S, Hamami S, Mlika A, Troudi M, et al. Molecular diagnosis of distal renal tubular acidosis in Tunisian patients: proposed algorithm for Northern Africa populations for the ATP6V1B1, ATP6V0A4 and SCL4A1 genes. BMC Med. Genet. 2013; 14:119
Dominguez Garcia A, Castaño Gonzalez LA, Perez-Nanclares G, Quinteiro Gonzalez S, Caballero Fernandez E. Clinical features of two cases of pseudohypoparathyroidism (la and lb) and molecular analysis of GNAS. An. Pediatr. 2013; 79(5): 319-24
García-Castaño A, Pérez-Nanclares G, Madariaga L, Aguirre M, Madrid A, Nadal I, et al. Genetics of Type III Bartter Syndrome in Spain, Proposed Diagnostic Algorithm. PLoS One. 2013; 8(9): e74673
Madariaga L, García-Castaño A, Pérez-Nanclares G, Nadal I, Aguirre M, Castaño L, et al. Long term prognosis of our cohort of patients with genetically confirmed Bartter syndrome (BS) type II & III. Pediatr. Nephrol. 2013; 28(9): 1889-90
Gil-Pena H, Castaño L, Ariceta G, Madariaga L, Perez-Nanclares G, Aguirre M. RenalTube: Online website-based collaborative effort for the clinical and molecular study of primary tubular disorders. Pediatr. Nephrol. 2013; 28(8): 1466
Shroff R, Stefanidis CJ, Askiti V, Edefonti A, Testa S, Ekim M, et al. Encapsulating peritoneal sclerosis in children on chronic PD: a survey from the European Paediatric Dialysis Working Group. Nephrol Dial Transplant. 2013 Jul;28(7):1908-14
Mejía N, Santos F, Claverie-Martín F, García-Nieto V, Ariceta G, Castaño L, et al. RenalTube: a network tool for clinical and genetic diagnosis of primary tubulopathies. Eur J Pediatr. 2013 Jun;172(6):775-80
Shroff R, Stefanidis C, Edifonti A, Ekim M, Ariceta G, Bakkaloglu S, et al. Encapsulating Peritoneal Sclerosis In Children On Chronic Pd - A Survey From The European Paediatric Dialysis Working Group. Nephrol. Dial. Transplant. 2013; 28(1): 6-7
Claverie-Martín F, García-Nieto V, Loris C, Ariceta G, Nadal I, Espinosa L, et al. Claudin-19 Mutations and Clinical Phenotype in Spanish Patients with Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis. PLoS One. 2013;8(1):e53151
Alberto Alonso Ruiz, Mª Gema Ariceta Iraola, M. J. Sanahuja, D. Morales, R. Muley, J. A. Camacho, et al. Peritoneal Dialysis (PD) technique failure in Spanish children. A multicenter study. Pediatr. Nephrol. 2012; 27(12): 2333-4
Alberto Alonso Ruiz, Mª Gema Ariceta Iraola, M. J. Sanahuja, D. Morales, R. Muley, J. A. Camacho, et al. Longitudinal growth in children on peritoneal dialysis in Spain. A multicenter study. Pediatr. Nephrol. 2012; 27(12): 2333
Elena Ramos-Trujillo, Felix Claverie-Martin, Hilaria Gonzalez-Acosta, Jaime Fons, Julia Vara, Marta Garcia-Ramirez, et al. Phenotype and genotype of five spanish boys with Dent's disease. Pediatr. Nephrol. 2012; 27(12): 2341
Jerome Harambat, Marjolein Bonthuis, Karlijn J. Van Stralen, Mª Gema Ariceta Iraola, Nina Battelino, Timo Jahnukainen, et al. Adult height after childhood onset renal replacement therapy in Europe: an ESPN/ERA-EDTA Registry study. Pediatr. Nephrol. 2012; 27(9): 1624-5
Dagmara Borzych-Duzalka, Vimal Chadha, Anja Sander, Nejat Aksu, Lale Sever, Anja Buescher, et al. Peritonitis Incidence And Risk Factors In Children Undergoing Chronic Peritoneal Dialysis (Pd). A Global Study Of The International Pediatric Pd Network (Ippn). Pediatr. Nephrol. 2012; 27(9): 1643-4
Leire Madariaga, Alejandro Garcia-Castano, Gustavo Perez De Nanclares Leal, Inma Nadal, Mireia Aguirre Meñica, Luis Castaño Gonzalez, et al. Long term prognosis of our cohort of patients with genetically confirmed Bartter syndrome (BS) type II & III. Pediatr. Nephrol. 2012; 27(9): 1670-1
Alejandro Garcia-Castano, Gustavo Perez De Nanclares Leal, Alvaro Madrid, Inma Nadal, Elena Lucas, Laura Espinosa, et al. Molecular Genetic Diagnosis Of Bartter Syndrome (BS) Type III. Pediatr. Nephrol. 2012; 27(9): 1671-2
Rukshana Shroff, Constantinos Stefanidis, Claus Peter Schmitt, Sevcan Bakkaloglu, Michel Fischbach, Alberto Edifonti, et al. Encapsulating Peritoneal Sclerosis in paediatric PD patients - a survey from the European Paediatric Dialysis Working Group. Pediatr. Nephrol. 2012; 27(9): 1794
Perez-Nanclares G, Romanelli V, Mayo S, Garin I, Zazo C, Fernandez-Rebollo E, et al. Detection of Hypomethylation Syndrome among Patients with Epigenetic Alterations at the GNAS Locus. J Clin Endocrinol Metab. 2012 Jun;97(6):E1060-7
Ariceta G, Arrizabalaga B, Aguirre M, Morteruel E, Lopez-Trascasa M. Eculizumab in the Treatment of Atypical Hemolytic Uremic Syndrome in Infants. Am J Kidney Dis. 2012 May;59(5):707-10
Belar O, De La Hoz C, Pérez-Nanclares G, Castaño L, Gaztambide S; Spanish MEN1 Group. Novel mutations in MEN1, CDKN1B and AIP genes in patients with multiple endocrine neoplasia type 1 syndrome in Spain. Clin Endocrinol (Oxf). 2012 May;76(5):719-24
Jerome Harambat, Marjolein Bonthuis, Karlijn J. Van Stralen, Mª Gema Ariceta Iraola, Nina Battelino, Timo Jahnukainen, et al. Adult Height After Childhood Onset Renal Replacement Therapy In Europe: An Espn/Era-Edta Registry Study. Nephrol. Dial. Transplant. 2012; 27(2): 546
Aparicio López C, Anton-Martin P, Gil-Fournier B, Ramiro-León S, Pérez-Nanclares G, Pérez de Nanclares G, et al. Familial hypocalciuric hypercalcemia: new mutation in the CASR gene converting valine 697 to methionine. Eur J Pediatr. 2012 Jan;171(1):147-50
Rees L, Azocar M, Borzych D, Watson AR, Büscher A, Edefonti A, et al. Growth in Very Young Children Undergoing Chronic Peritoneal Dialysis. J Am Soc Nephrol. 2011 Dec;22(12):2303-12
Mª Gema Ariceta Iraola. Hipomagnesemia renal hereditaria. Revista Española de Pediatria. 2011; 67(6): 347-53
Mª Gema Ariceta Iraola, Mª Paloma Delgado Beltran. Tratamiento de la anemia postrasplante renal. Nefrología. 2011; 2
Morey M, Castro-Feijóo L, Barreiro J, Cabanas P, Pombo M, Gil M, et al. Genetic diagnosis of X-linked dominant hypophosphatemic rickets in a cohort study: Tubular reabsorption of phosphate and 1,25(OH)(2)D serum levels are associated with PHEX mutation type. BMC Med Genet. 2011 Sep 8;12:116
M. Aguirre, B. Arrizabalaga, C. Abarrategui, Elvira Morteruel Arizkuren, M. Lopez-Trascasa, Ramon Areses Trapote, et al. Eculizumab pharmacokinetics and efficacy in a newborn with aHUS: an option in no-candidates to plasma exchange. Pediatr. Nephrol. 2011; 26(9): 1676-7
A. Alonso, Alvaro Sanchez Perez, M. Sanahuja, Mª Gema Ariceta Iraola, D. Morales, R. Muley, et al. Peritonitis in children on peritoneal dialysis in Spain: influence of biocompatible peritoneal solutions. Pediatr. Nephrol. 2011; 26(9): 1597-8
L. Espinosa, C. Fdez Camblor, L. E. Lara, M. J. Sanahuja, Mª Gema Ariceta Iraola, F. De La Cerda, et al. Urological and vascular complications after kidney transplantation in children: Spanish multicenter study. Pediatr. Nephrol. 2011; 26(9): 1606
E. Ramos-Trujillo, H. Gonzalez-Acosta, J. Fons, Mª Gema Ariceta Iraola, B. Valenciano, M. Garcia-Ramirez, et al. Atypical cases of Dent's disease presenting as asymtomatic proteinuria and focal glomerulosclerosis and identification of new CLCN5 mutations. Pediatr. Nephrol. 2011; 26(9): 1639
D. El Hayek, H. Bouzidi, G. Perez de Nanclares, H. Soua, J. Ben Chibani, Mª Gema Ariceta Iraola, et al. ATP6V1B1 and ATP6V0A4 genes mutations in Tunisians children with distal renal tubular acidosis. Pediatr. Nephrol. 2011; 26(9): 1674
M. Aguirre, Juan Jose Mateos Mazon, C. Abarrategui, Julio Lopez Bayon, M. Lopez-Trascasa, Mª Gema Ariceta Iraola. Early diagnosis of deap-hus followed by complete renal recovery: case report. Pediatr. Nephrol. 2011; 26(9): 1676
Fernández-Rebollo E, Pérez de Nanclares G, Lecumberri B, Turan S, Anda E, Pérez-Nanclares G, et al. Exclusion of the GNAS Locus in PHP-Ib Patients With Broad GNAS Methylation Changes: Evidence for an Autosomal Recessive Form of PHP-Ib? J Bone Miner Res. 2011 Aug;26(8):1854-63
González D, García CD, Azócar M, Waller S, Alonso A, Ariceta G, et al. Growth of kidney-transplanted pediatric patients treated with sirolimus. Pediatr Nephrol. 2011 Jun;26(6):961-6
Vallo A, García V, Ariceta G. In memoriam: Professor Juan Rodriguez Soriano (1933-2010). Pediatr. Nephrol. 2011; 26(5): 823-5
Andrade F, Rodríguez-Soriano J, Prieto JA, Aguirre M, Ariceta G, Lage S, et al. Methylation cycle, arginine-creatine pathway and asymmetric dimethylarginine in paediatric renal transplant. Nephrol Dial Transplant. 2011 Jan;26(1):328-36
Ariceta G. Clinical practice Proteinuria. Eur J Pediatr. 2011 Jan;170(1):15-20
Borzych D, Rees L, Ha IS, Chua A, Valles PG, Lipka M, et al. The bone and mineral disorder of children undergoing chronic peritoneal dialysis. Kidney Int. 2010 Dec;78(12):1295-304
Schoeb DS, Chernin G, Heeringa SF, Matejas V, Held S, Vega-Warner V, et al. Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS). Nephrol Dial Transplant. 2010 Sep;25(9):2970-6
Mª Gema Ariceta Iraola, R. A. Cohn, M. Cuevas, C. B. Langman. The Meaning of Anemia in Children during the First Year of Kidney Transplantation (KTx). Pediatr. Nephrol. 2010; 25(9): 1812
Santos F, Moreno ML, Neto A, Ariceta G, Vara J, Alonso A, et al. Improvement in Growth After 1 Year of Growth Hormone Therapy in Well-Nourished Infants with Growth Retardation Secondary to Chronic Renal Failure: Results of a Multicenter, Controlled, Randomized, Open Clinical Trial. Clin J Am Soc Nephrol. 2010 Jul;5(7):1190-7
de Lucio Delgado A, Ariceta Iraola G, Oliver Linares FJ, Blanco Bruned JL. Recurrent urine infections: "It's not reflux, it's the bladder". An Pediatr (Barc). 2010 Mar;72(3):231-3
Rangel GA, Ariceta G. Growth failure associated with sirolimus: case report. Pediatr Nephrol. 2009 Oct;24(10):2047-50
F. Claverie-Martin, H. Gonzalez-Acosta, C. Loris, Mª Gema Ariceta Iraola, F. Santos, L. Espinosa, et al. Genotype And Phenotype Of Spanish Patients With Familial Hypomagnesemia With Hypercalciuria And Nephrocalcinosis. Pediatr. Nephrol. 2009; 24(9): 1793-4
Alberto Alonso Ruiz, R. Bedoya, M. Sanahuja, E. Lara, Mª Gema Ariceta Iraola, D. Morales, et al. Epidemiology Of End Stage Renal Failure In Spanish Children. Pediatr. Nephrol. 2009; 24(9): 1813-4
M. Beriain, M. Aguirre, A. Vallo, J. Rodriguez-Soriano, Mª Gema Ariceta Iraola. Long-Term Outcome In 13 Patients With Primary Distal Renal Tubular Acidosis. Pediatr Nephrol 2009;24:1852
I. Zamora, M. Sanahuja, S. Agusti, C. Garcia, Mª Gema Ariceta Iraola, A. Luque, et al. A Multicenter Study Of Cardiovascular Risk Factors In Pediatric Kidney Transplantation. Pediatr. Nephrol. 2009; 24(9): 1878
Riaño-Galán I, Málaga S, Rajmil L, Ariceta G, Navarro M, Loris C, et al. Quality of life of adolescents with end-stage renal disease and kidney transplant. Pediatr Nephrol. 2009 Aug;24(8):1561-8
Garin I, Martinez R, de las Heras J, Perez-Nanclares G, Castano L, Perez de Nanclares G, et al. Mutations in MAFA and IAPP are not a common cause of monogenic diabetes. Diabet Med. 2009 Jul;26(7):746-8
Urisarri-Ruiz de Cortázar A, Calvo MG, Donsión MV, Iraola GA, Sánchez JM. Renal dysplasia/hypoplasia, Williams Syndrome phenotype and non-Hodgkin lymphoma in the same patient: only a coincidence? Pediatr Nephrol. 2009 May;24(5):1081-4
Fernández-Rebollo E, Pérez O, Martinez-Bouzas C, Cotarelo-Pérez MC, Garin I, Ruibal JL, et al. Two cases of deletion 2q37 associated with segregation of an unbalanced translocation 2;21: choanal atresia leading to misdiagnosis of CHARGE syndrome. Eur J Endocrinol. 2009 Apr;160(4):711-7
Ariceta G, Besbas N, Johnson S, Karpman D, Landau D, Licht C, et al. Guideline for the investigation and initial therapy of diarrhea-negative hemolytic uremic syndrome. Pediatr Nephrol. 2009 Apr;24(4):687-96
Yeste D, González-Niño C, Pérez de Nanclares G, Pérez-Nanclares G, Audi L, Castaño L, et al. ACTH-dependent precocious pseudopuberty in an infant with DAX1 gene mutation. Eur J Pediatr. 2009 Jan;168(1):65-9
Vega MI, Uria C, Aguirre M, Ariceta G, Llorens V. Hidronefrosis de presentación atípica. An. Pediatr. 2008; 68(8): 621-3
Fernandez-Rebollo E, Barrio R, Pérez-Nanclares G, Carcavilla A, Garin I, Castaño L, et al. New mutation type in pseudohypoparathyroidism type Ia. Clin Endocrinol (Oxf). 2008 Nov;69(5):705-12
A. Alonso, A. Sanchez, M. J. Sanahuja, Mª Gema Ariceta Iraola, D. Morales, R. Muley, et al .Paediatric peritoneal dialysis in spain: A national collaborative study. Pediatr. Nephrol. 2008; 23(9): 1675
Mª Gema Ariceta Iraola, A. Alonso, Alvaro Sanchez Perez, M. J. Sanahuja, D. Morales, R. Muley, et al. Chronic pediatric peritoneal dialysis in Spain: prescription, adequacy, and complications. Pediatr. Nephrol. 2008; 23(9): 1673
Andrade F, Rodríguez-Soriano J, Prieto JA, Elorz J, Aguirre M, Ariceta G, et al. Arginine-guanidinoacetate-creatine pathway in pediatric renal transplant recipients. Pediatr Res. 2008 Aug;64(2):218-22
Fernando Andrade Lodeiro, J. A. Prieto, Mª Gema Ariceta Iraola, M. Aguirre, Pablo Sanjurjo Crespo, Luis Jose Aldamiz Echevarria Azuara. Arginine-guanidinoacetate-creatine pathway in paediatric renal transplants. J. Inherit. Metab. Dis. 2008; 31(1): 70
Andrade F, Rodríguez-Soriano J, Prieto JA, Elorz J, Aguirre M, Ariceta G, et al. The arginine-creatine pathway is disturbed in children and adolescents with renal transplants. Pediatr Res. 2008 Aug;64(2):218-22
Mª Gema Ariceta Iraola, Craig B. Langman. Longitudinal growth in children with X-linked hypophosphatemic rickets. Pediatr. Nephrol. 2008; 23(8): 1379
Garin I, Rica I, Estalella I, Oyarzabal M, Rodríguez-Rigual M, San Pedro JI, et al. Haploinsufficiency at GCK gene is not a frequent event in MODY2 patients. Clin Endocrinol (Oxf). 2008 Jun;68(6):873-8
Gonzalez C, Ariceta G, Langman CB, Zibaoui P, Escalona L, Dominguez LF, et al. Hypercalciuria is the main renal abnormality finding in Human Immunodeficiency Virus-infected children in Venezuela. Eur J Pediatr. 2008 May;167(5):509-15
Ariceta G, Alonso A, Sánchez A, Sanahuja MJ, Morales D, Muley R, et al. Current status of chronic peritoneal dialysis in children: prescription, suitability and complications. Nefrologia. 2008;28 Suppl 6:141
Alonso Melgar A, Sánchez Moreno A, Sanahuja MJ, Ariceta G, Morales D, Mulley R, et al. Pediatric peritoneal dialysis in Spain: survival analysis and current epidemiological data. Nefrologia. 2008;28 Suppl 6:139
Última Actualización: Junio 02, 2014

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