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Enfermedades renales hereditarias y raras

Líneas de investigación

Desarrollo de nuevos métodos diagnósticos para el estudio molecular de las tubulopatías primarias
Estudio de la correlación genotipo-fenotipo y la evolución a largo plazo de los pacientes afectos de tubulopatías primarias
Análisis de las malformaciones renales congénitas: estudio de las anomalías moleculares asociadas y la evolución clínica de estos pacientes.
Estudio clínico y molecular de los trastornos del metabolismo fosfo-cálcico

Foto grupo

Actividades del grupo

El grupo de investigación en Enfermedades Renales Hereditarias y Raras es un grupo clínico experimental, formado por clínicos que son referentes a nivel nacional en las enfermedades renales hereditarias, diálisis y trasplante renal, y por básicos con una amplia experiencia en el diagnóstico genético de estas patologías.  Las principales actividades que lleva a cabo son las siguientes:

- Estudio clínico y molecular de tubulopatías hereditarias. Las tubulopatías primarias o hereditarias son enfermedades de base genética que cursan con alteraciones de la función tubular renal pero con función glomerular preservada. Frecuentemente debutan en la edad pediátrica con fallo de medro y descompensaciones electrolíticas severas. La afectación de la función renal a largo plazo es muy variable. Inicialmente se estudiaban a nivel molecular mediante secuenciación tradicional el síndrome de Bartter, la diabetes insípida y las mutaciones del sensor receptor del calcio. Actualmente, hemos desarrollado  la técnica de secuenciación masiva para estudiar a la vez los 44 genes más frecuentemente asociados al desarrollo de tubulopatías primarias.

- Caracterización del mecanismo molecular de variante Ala204Thr del gen CLCNKB (síndrome de Bartter 3): realización de estudios funcionales para caracterizar el mecanismo de esta mutación fundadora en la población española y que se halla en aproximadamente el 80 % de los pacientes con un síndrome de Bartter tipo 3.

- Caracterización genotípica y clínica de pacientes con diabetes insípida nefrogénica. En colaboración con el Hospital de Connecticut, se está realizando un registro clínico común de estos pacientes nivel internacional, con genotipado de los mismos, que permita el análisis de los datos y el potencial desarrollo de nuevas dianas terapéuticas.

- Estudio de las alteraciones del gen HNF1B, que da lugar a anomalías renales congénitas y diabetes tipo MODY, junto a otras anomalías menores. Estas alteraciones son la causa más frecuente de displasia renal de origen genético.

- Trastornos del metabolismo fosfo-cálcico. Disponemos de una cohorte importante de pacientes con alteraciones del CaSR,  pacientes con raquitismo hipofosfatémico  y pacientes con anomalías relacionadas con la PTH (pseudo, hipo e hiperparatirodismos de origen genético). Hemos desarrollado un panel de genes mediante secuenciación masiva que incluye la mayoría de los genes responsables de estas alteraciones.

Además, nuestro grupo participa en diversas redes y grupos de investigación, a nivel nacional e internacional. A nivel nacional cabe destacar el proyecto Renaltube (www.renaltube.com), del que formamos parte junto a otros 3 grupos de investigación en tubulopatías primarias en Oviedo, Tenerife y Barcelona, que permite agrupar y estudiar todos los pacientes con el diagnóstico de tubulopatías primarias.

Coordinador/a del grupo



Miembros del grupo

  Mireia Aguirre Meñica
 
 
  Eva Álvarez Quintana
 
 
  Juan José Amenabar Iribar
 
 
  Francisco Javier Gainza de los Ríos
 
 
  Mikel Gallego Rodrigo
 
 
  Gorka García Erauzkin
 
 
  Nelida García Pérez
 
 
  Sara Gómez Conde
 
 
  Leire Gondra Sangroniz
 
 
  María Herrero Goñi
 
 
  Ainhoa Inza San Salvador del Valle
 
 
  Naroa Maruri Kareaga
 
 
  María Luisa Muñíz Gómez
 
 
  José Antonio Quintanar Lartundo
 
 
  José Manuel Urbizu Gallardo
 
 
  Sofía Zarraga Larrondo
 
 
  Amaia Zugazabeitia Irazabal
 
 
  Ana Vinuesa Jaca
 
 
  Beatriz Redondo Navarro
 
 

Publicaciones del grupo

Alejo Cancho I, Gual Torrella A, Gallego M, Urrutikoetxea Gutierrez M, Lejarraga C, Lopez de Goikoetxea MJ. Misidentification of the SARS-CoV-2 Mu variant using commercial mutation screening assays. Arch Virol. 2022; 167(4): 1141-1144. DOI:10.1007/s00705-022-05395-w.

Goni MH, Menica MA, Dominguez LM, Sangroniz LG, Jaca AV. Donation after circulatory death in pediatric kidney transplantation, same graft survival as donation after brain death. Pediatr Transplant. 2022; 26

Pejenaute IS, Anakabe EL, Madariaga L, Varela MA, Vazquez LSD, Goni MH. Secondary Immunosuppression in Pediatric Kidney Transplant Recipients. Exp Clin Transplant. 2022; 20(3): 258-263. DOI:10.6002/ect.2021.0410.

Verploegen M, Vargas Poussou R, Walsh SB, Alpay H, Amouzegar A, Ariceta G, et al. Parathyroid hormone and phosphate homeostasis in patients with Bartter and Gitelman syndrome: an international cross-sectional study. Nephrol Dial Transplant. 2022. DOI:10.1093/ndt/gfac029.

Castano L, Madariaga L, Grau G, Garcia Castano A. 25(OH)Vitamin D Deficiency and Calcifediol Treatment in Pediatrics. Nutrients. 2022; 14(9). DOI:10.3390/nu14091854.

Udondo Gonzalez Del Tanago B, Aguirre Menica M, Zaldumbide Duenas L, Martinez Exposito O, Gonzalez Hermosa MR. Hundreds of vasculoproliferative skin lesions in a paediatric renal transplant recipient. Clin Exp Dermatol. 2022; 47(9): 1748-1751. DOI:10.1111/ced.15234.

Urrutikoetxea Gutierrez M, Ugalde Zarraga E, Gallego Rodrigo M, Diaz de Tuesta Del Arco JL. De novo emergence of the mutation E484K in a SARS-CoV-2 B.1.1.7 lineage variant. Enferm Infecc Microbiol Clin (Engl Ed). 2022; 40(9): 520-522. DOI:10.1016/j.eimce.2022.06.005.

Mazuecos A, Villanego F, Zarraga S, Lopez V, Oppenheimer F, Llinas Mallol L, et al. Breakthrough Infections Following mRNA SARS-CoV-2 Vaccination in Kidney Transplant Recipients. Transplantation. 2022; 106(7): 1430-1439. DOI:10.1097/TP.0000000000004119.

Pelegri Martinez E, Guruceaga X, Martin Souto L, Abad Cerio A, Rementeria A, Dominguez A, et al. Flexible multiplex PCR to detect SARS-CoV-2, coronavirus OC43 and influenza A virus in nasopharyngeal swab samples. J Appl Microbiol. 2022. DOI:10.1111/jam.15788.

Villanego F, Mazuecos A, Cubillo B, Merino MJ, Poveda I, Saura IM, et al. Treatment with sotrovimab for SARS-CoV-2 infection in a cohort of high-risk kidney transplant recipients. Clin Kidney J. 2022; 15(10): 1847-1855. DOI:10.1093/ckj/sfac177.

Quiroga B, Ortiz A, Cabezas Reina CJ, Fuentes MCR, Jimenez VL, Larrondo SZ, et al. Evolving spectrum but persistent high mortality of COVID-19 among patients on kidney replacement therapy in the vaccine era: the Spanish COVID-19 KRT Registry. Clin Kidney J. 2022; 15(9): 1685-1697. DOI:10.1093/ckj/sfac135.

Gomez Conde S, Dunand O, Hummel A, Moriniere V, Gauthier M, Mesnard L, et al. Bi-allelic pathogenic variants in ITGA8 cause slowly progressive renal disease of unknown etiology. Clin Genet. 2022. DOI:10.1111/cge.14229.

Frutos MA, Crespo M, de la Oliva Valentin M, Alonso Melgar A, Alonso J, Fernandez C, et al. Guidelines for living donor kidney transplantation. Nefrologia. 2022; 42: 1-128. DOI:10.1016/j.nefro.2021.10.002.

De Zan F, Marlais M, Arbeiter K, Ariceta G, Becherucci F, Besouw M, et al. NON-STEROIDAL ANTI-INFLAMMATORY DRUGS TREATMENT AND RISK OF CHRONIC KIDNEY DISEASE IN PATIENTS WITH BARTTER SYNDROME AND PRIMARY NEPHROGENIC DIABETES INSIPIDUS. Pediatr Nephrol. 2022; 37(11): 2969-2969

Garcia Castano A, Gomez Conde S, Madariaga L, Ariceta G. NEW FAMILY WITH KCNJ16 GENE TUBULOPATHY, CHARACTERIZED BY HYPOKALEMIA, IMPAIRED ACID-BASE HOMEOSTASIS AND SENSORINEURAL HEARING LOSS. Pediatr Nephrol. 2022; 37(11): 2874-2875

Villanego F, Crespo M, Lopez V, Zarraga S, Oppenheimer F, Llinas L, et al. Comparison of Outcomes of Covid-19 Between Fully Vaccinated and Unvaccinated Kidney Transplant Recipients and According to the Type of M-RNA Vaccine. Am J Transplant. 2022; 22: 761-761

Lopez V, Mazuecos A, Villanego F, Lopez Oliva M, Alonso A, Beneyto I, et al. [Update of the recommendations on the management of the SARS-CoV-2 coronavirus pandemic (COVID-19) in kidney transplant patients.]. Nefrologia. 2022. DOI:10.1016/j.nefro.2022.11.001.

Franco A, Hernandez D, Mas Serrano P, Zarraga S, Sanchez A, Crespo M, et al. Incidence of Lymphoproliferative Disorders After Renal Transplantation is Down, but the Poor Prognosis Remains. Multicenter 32-Year Cohort Study. Transplant Proc. 2022. DOI:10.1016/j.transproceed.2022.10.017.

Burballa C, Cantero Recasens G, Prikhodina L, Lugani F, Schlingmann K, Ananin PV, et al. Clinical and genetic characteristics of Dent's Disease type 1 in Europe. Nephrol Dial Transplant. 2022. DOI:10.1093/ndt/gfac310.

Garcia Castano A, Madariaga L, Gomez Conde S, Cordo CLR, Lopez Iglesias M, Garcia Fernandez Y et al. Five patients with disorders of calcium metabolism presented with GCM2 gene variants. Sci Rep. 2021; 11(1): 2968-2968. DOI:10.1038/s41598-021-82661-y.

Vall Palomar M, Madariaga L, Ariceta G. Familial hypomagnesemia with hypercalciuria and nephrocalcinosis. Pediatr Nephrol. 2021; 36(10): 3045-3055. DOI:10.1007/s00467-021-04968-2.

Rodriguez Rubio E, Gil Pena H, Chocron S, Madariaga L, de la Cerda Ojeda F, Fernandez M et al. Phenotypic characterization of X-linked hypophosphatemia in pediatric Spanish population. Orphanet J Rare Dis. 2021; 16(1): 104-104. DOI:10.1186/s13023-021-01729-0.

Gangoiti I, Fernandez C, Gallego M, Gomez B, Benito J, Mintegi S. Markers for invasive bacterial infections in previously healthy children. Am J Emerg Med. 2021; 48: 83-86. DOI:10.1016/j.ajem.2021.04.018.

Rodriguez Rubio E, Gil Pena H, Chocron S, Madariaga L, de la Cerda ojeda F, Fernandez M et al. Phenotypic characterization of X-linked hypophosphatemia in pediatric Spanish population (vol 16, 104, 2021). Orphanet J Rare Dis. 2021; 16(1). DOI:10.1186/s13023-021-01786-5.

Gomez Conde S, Garcia Castano A, Aguirre M, Herrero M, Gondra L, Garcia Perez N et al. Molecular aspects and long-term outcome of patients with primary distal renal tubular acidosis. Pediatr Nephrol. 2021; 36(10): 3133-3142. DOI:10.1007/s00467-021-05066-z.

Villanego F, Mazuecos A, Perez Flores IM, Moreso F, Andres A, Jimenez Martin C et al. Predictors of severe COVID-19 in kidney transplant recipients in the different epidemic waves: Analysis of the Spanish Registry. Am J Transplant. 2021; 21(7): 2573-2582. DOI:10.1111/ajt.16579.

Gangoiti I, Fernandez C, Gallego M, Gomez B, Benito J, Mintegi S. Erratum to 'Markers for invasive bacterial infections in previously healthy children' [American Journal of Emergency Medicine 48C (2021) 83-86]. Am J Emerg Med. 2021; 46: 806-806. DOI:10.1016/j.ajem.2021.04.052.

Buxeda A, Arias Cabrales C, Perez Saez MJ, Cacho J, Pelegrin SC, Melilli E et al. Use and safety of remdesivir in kidney transplant recipients with COVID-19. Kidney Int Rep. 2021; 6(9): 2305-2315. DOI:10.1016/j.ekir.2021.06.023.

Valentin MO, Hernandez D, Crespo M, Mahillo B, Beneyto I, Martinez I et al. Live donor kidney transplantation. Situation analysis and roadmap. Nefrologia. 2021. DOI:10.1016/j.nefro.2021.03.008.

Urrutikoetxea Gutierrez M, Ugalde Zarraga E, Gallego Rodrigo M, Diaz de Tuesta Del Arco JL. De novo emergence of the mutation E484K in a SARS-CoV-2 B.1.1.7 lineage variant. Enferm Infecc Microbiol Clin. 2021. DOI:10.1016/j.eimc.2021.07.005.

Franco A, Mas Serrano P, Gonzalez Y, Andres A, Zarraga S, Esforzado N et al. There Are 33,784 Functioning Kidney Grafts in Spain: Who Monitors Them and How?. Transplant Proc. 2021; 53(9): 2672-2674. DOI:10.1016/j.transproceed.2021.07.057.

Mejia de Beldjenna L, Garcia Castano A, Gomez Conde S, Castano L. Primary hyperparathyroidism due to a deletion of the CDC73 gene. Horm Res Paediatr. 2021; 94(SUPPL 1): 215-215

Domingo Gallego A, Pybus M, Madariaga L, Pinero Fernandez JA, Gonzalez Pastor S, Lopez Gonzalez M et al. Clinical and genetic characterization of a cohort of proteinuric patients with biallelic CUBN variants. Nephrol Dial Transplant. 2021. DOI:10.1093/ndt/gfab285.

Burballa C, Prikhodina L, Lugani F, Schlingmann K, Ananin PV, Bockenhauer D et al. CLINICAL FEATURES AND MANAGEMENT OF DENT'S DISEASE TYPE 1 (DD1) IN EUROPE. Pediatr Nephrol. 2021; 36(10): 3303-3303

Madariaga L, Gomez Conde S, Garcia Castano A, Aguirre M, Herrero M, Gondra L et al. LONG-TERM OUTCOME OF A SERIES OF PATIENTS WITH PRIMARY DISTAL RENAL TUBULAR ACIDOSIS. Pediatr Nephrol. 2021; 36(10): 3367-3367

Maritxalar AI, Pejenaute IS, Anakabe EL, Goni MH, Dominguez LM, Varela MA et al. SECONDARY IMMUNOSUPPRESSION IN PEDIATRIC KIDNEY TRANSPLANT RECIPIENTS. Pediatr Nephrol. 2021; 36(10): 3460-3461

Maritxalar AI, Goni MH, Dominguez LM, Sangroniz LG, Menica MA, Castano AG et al. OUTCOME OF A COHORT OF PATIENTS WITH DENT DISEASE. Pediatr Nephrol. 2021; 36(10): 3312-3312

Sangroniz LG, Dominguez LM, Castano AG, Goni MH, Menica MA, Jaca AV et al. LONG-TERM FOLLOW-UP OF PATIENTS WITH BARTTER SYNDROME TYPE III. Pediatr Nephrol. 2021; 36(10): 3302-3303

Perez NG, Irigaray MG, Sangroniz LG, Goni MH, Dominguez LM, Menica MA et al. GROSS HEMATURIA IN PATIENTS OF AFRICAN ORIGIN, WHAT SHOULD WE THINK ABOUT?. Pediatr Nephrol. 2021; 36(10): 3488-3488

Goni MH, Sangroniz LG, Menica MA, Jaca AV, Dominguez LM, De Larrinoa AF et al. DE NOVO THROMBOTIC MICROANGIOPATHY AFTER KIDNEY TRANSPLANTATION IN A PEDIATRIC PATIENT. Pediatr Nephrol. 2021; 36(10): 3462-3462

Jaca AV, Menica MA, Hermosa MRG, Sangroniz LG, Goni MH, Dominguez LM et al. SKIN LESIONS IN KIDNEY TRASPLANT RECIPIENT. Pediatr Nephrol. 2021; 36(10): 3347-3347

de las Heras J, Cano A, Vinuesa A, Montes M, Unceta Suarez M, Arza A et al. Importance of Timely Treatment Initiation in Infantile-Onset Pompe Disease, a Single-Centre Experience. Children (Basel). 2021; 8(11). DOI:10.3390/children8111026.

Tamayo Orbegozo E, Amo L, Díez García J, Amutio E, Riñón M, Alonso M, et al. Emerging Role of Podocalyxin in the Progression of Mature B-Cell Non-Hodgkin Lymphoma. Cancers (Basel). 2020; 12(2). DOI:10.3390/cancers12020396.

García Castaño A, Madariaga L, Pérez de Nanclares G, Vela A, Rica I, Gaztambide S, et al. Forty-one individuals with mutations in the AVP-NPII gene associated with familial neurohypophyseal diabetes insipidus. J Clin Endocrinol Metab. 2020; 105(4). DOI:10.1210/clinem/dgaa069.

de la Cerda Ojeda F, Gonzalez Rodriguez JD, Madariaga L, Martinez Guerra G, Matoses Ruiperez ML. Hypophosphataemic Rickets: Similar Phenotype of Different Diseases. Adv Ther. 2020; 37(SUPPL 2): 80-88. DOI:10.1007/s12325-019-01182-3.

Bahíllo Curieses MP, López Casillas P, García Castaño A. Familiar hypocalciuric hypercalcemia: Biochemical and genetic characterization of a family. Med Clin. 2021; 156(10): 525-526. DOI:10.1016/j.medcli.2020.01.005.

Bahíllo Curieses MP, Palomares Cardador M, García Castaño A. Familial central diabetes insipidus. Med Clin. 2020; 155(12): 559-560. DOI:10.1016/j.medcli.2019.10.021.

García Castaño A, Madariaga L, Pérez de Nanclares G, Vela A, Rica I, Gaztambide S, et al. Response to Letter to the Editor: "Forty-One Individuals With Mutations in the AVP-NPII Gene Associated With Familial Neurohypophyseal Diabetes Insipidus". J Clin Endocrinol Metab. 2020; 105(7): 2687-2688. DOI:10.1210/clinem/dgaa255.

López V, Vázquez T, Alonso Titos J, Cabello M, Alonso A, Beneyto I, et al. Recommendations on management of the SARS-CoV-2 coronavirus pandemic (Covid-19) in kidney transplant patients. Nefrologia. 2020; 40(3): 265-271. DOI:10.1016/j.nefro.2020.03.002.

Mijangos F, Celaya MA, Gainza FJ, Imaz A, Arana E. SEM-EDX linear scanning: a new tool for morpho-compositional analysis of growth bands in urinary stones. J Biol Inorg Chem. 2020; 25(5): 705-715. DOI:10.1007/s00775-020-01793-0.

Perez Saez MJ, Blasco M, Redondo Pachon D, Ventura Aguilar P, Bada Bosch T, Perez Flores I, et al. Use of tocilizumab in kidney transplant recipients with COVID-19. Am J Transplant. 2020; 20(11): 3182-3190. DOI:10.1111/ajt.16192.

Pascual J, Melilli E, Jimenez Martin C, Gonzalez Monte E, Zarraga S, Gutierrez Dalmau A, et al. COVID-19-related Mortality During the First 60 Days After Kidney Transplantation. Eur Urol. 2020; 78(4): 641-643. DOI:10.1016/j.eururo.2020.06.036.

Crespo M, Zarraga S, Alonso A, Beneyto I, Diaz Corte C, Fernandez Rodriguez AM, et al. Monitoring of Donor-specific Anti-HLA Antibodies and Management of Immunosuppression in Kidney Transplant Recipients: An Evidence-based Expert Paper. Transplantation. 2020; 104(8S2 Suppl 2): 1-12. DOI:10.1097/TP.0000000000003270.

Martinez de LaPiscina I, Hernandez Ramirez LC, Portillo N, Gomez Gila AL, Urrutia I, Martinez Salazar R, et al. Rare Germline DICER1 Variants in Pediatric Patients With Cushing's Disease: What Is Their Role?. Front Endocrinol (Lausanne). 2020; 11: 433-433. DOI:10.3389/fendo.2020.00433.

Garcia Castano A, Perdomo Ramirez A, Vall Palomar M, Ramos Trujillo E, Madariaga L, Ariceta G, et al. Novel compound heterozygous mutations of CLDN16 in a patient with familial hypomagnesemia with hypercalciuria and nephrocalcinosis. Mol Genet Genom Med. 2020. DOI:10.1002/mgg3.1475.

Crespo M, Mazuecos A, Rodrigo E, Gavela E, Villanego F, Sanchez Alvarez E, et al. Respiratory and Gastrointestinal COVID-19 Phenotypes in Kidney Transplant Recipients. Transplantation. 2020; 104(11): 2225-2233. DOI:10.1097/TP.0000000000003413.

Garcia Castano A, Madariaga L, Anton Gamero M, Mejia N, Ponce J, Gomez Conde S, et al. Novel variant in the CNNM2 gene associated with dominant hypomagnesemia. PLoS One. 2020; 15(9): 239965-239965. DOI:10.1371/journal.pone.0239965.

Gomez Conde S, Garcia Castano A, Aguirre M, Herrero M, Gondra L, Castano L, et al. Hereditary distal renal tubular acidosis: Genotypic correlation, evolution to long term, and new therapeutic perspectives. Nefrologia. 2020; 41(4): 383-390. DOI:10.1016/j.nefro.2020.08.015.

Lopez Garcia SC, Downie ML, Kim JS, Boyer O, Walsh SB, Nijenhuis T, et al. Treatment and long-term outcome in primary nephrogenic diabetes insipidus. Nephrol Dial Transplant. 2020. DOI:10.1093/ndt/gfaa243.

Garcia A, Madariaga L, Perez de Nanclares G, Vela A, Rica I, Gaztambide S, et al. Novel variants in the AVP-NPII gene associated with neurohypophyseal diabetes insipidus. Eur J Hum Genet. 2020; 28(SUPPL 1): 815-815

Gaztambide S, Ramirez J, Gomez M, Montalban C, Ruiz R, Socias C, et al. Novel mutations associated with inherited human calcium-sensing receptor disorders: A clinical genetic study. Eur J Endocrinol. 2019; 180(1): 59-70. DOI:10.1530/EJE-18-0129.

Hernández Frías O, Gil Peña H, Pérez Roldán JM, González Sanchez S, Ariceta G, Chocrón S, et al. Risk of cardiovascular involvement in pediatric patients with X-linked hypophosphatemia. Pediatr Nephrol. 2019; 34(6): 1077-1086. DOI:10.1007/s00467-018-4180-3.

Zugazabeitia Irazabal A, Herrero Goni. Short-term outcomes in controlled donation after circulatory death (dcd) pediatric kidney trasplant. Pediatr Nephrol. 2019; 34(5): 746-746

Urrutia I, Martinez R, Rica I, Martinez de LaPiscina I, Garcia Castano A, Aguayo A, et al. Negative autoimmunity in a Spanish pediatric cohort suspected of type 1 diabetes, could it be monogenic diabetes?. PLoS One. 2019; 14(7). DOI:10.1371/journal.pone.0220634.

Jose Perez Saez M, Lafuente Covarrubias O, Hernandez D, Moreso F, Melilli E, de Sousa E, et al. Early outcomes of kidney transplantation from elderly donors after circulatory death (GEODAS study). BMC NEPHROL. 2019; 20(1): 233-233. DOI:10.1186/s12882-019-1412-0.

Porrini E, Manuel Diaz J, Moreso F, Lauzurrica R, Ibernon M, Torres IS, et al. Prediabetes is a risk factor for cardiovascular disease following renal transplantation. Kidney Int. 2019; 96(6): 1374-1380. DOI:10.1016/j.kint.2019.06.026.

Portoles JM, Jose Perez Saez M, Lopez Sanchez P, Lafuente Covarrubias O, Juega J, Hernandez D, et al. Kidney transplant from controlled donors following circulatory death: Results from the GEODAS-3 multicentre study. Nefrologia. 2019; 39(2): 151-159. DOI:10.1016/j.nefro.2018.07.013.

Domingo Gallego A, Bullich G, Ruiz P, Lorente Grandoso L, Furlano M, Fraga G, et al. Genetic testing approach for patients with congenital anomalies of the kidney and urinary tract (CAKUT). Eur J Hum Genet. 2019; 27(1): 495-496

Puig Gay N, Jacobs Cacha C, Sellarès J, Guirado L, González Roncero F, Jiménez C, et al. Apolipoprotein A-Ib as a biomarker of focal segmental glomerulosclerosis recurrence after kidney transplantation: diagnostic performance and assessment of its prognostic value - a multi-centre cohort study. Transpl Int. 2019; 32(3): 313-322. DOI:10.1111/tri.13372.

Perdomo Ramirez A, Aguirre M, Davitaia T, Ariceta G, Ramos Trujillo E, RenalTube G, et al. Characterization of two novel mutations in the claudin-16 and claudin-19 genes that cause familial hypomagnesemia with hypercalciuria and nephrocalcinosis. Gene. 2019; 689: 227-234. DOI:10.1016/j.gene.2018.12.024.

Castano AG, Madariaga L, Gaztambide S, Castano L. Clinical and Molecular Study of Patients with Hypercalcemia or Hypocalcemia and Alterations in the Calcium Sensor Receiver. Horm Res Paediatr. 2018; 90(2): 19-19

Morales JM, Serrano M, Martinez Flores JA, Gainza FJ, Marcen R, Arias M, et al. Pretransplant IgA-Anti-Beta 2 Glycoprotein I Antibodies As a Predictor of Early Graft Thrombosis after Renal Transplantation in the Clinical Practice: A Multicenter and Prospective Study. Front Immunol. 2018; 9. DOI:10.3389/fimmu.2018.00468.

Bullich G, Domingo Gallego A, Vargas I, Ruiz P, Lorente Grandoso L, Furlano M, et al. A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases. Kidney Int. 2018; 94(2): 363-371. DOI:10.1016/j.kint.2018.02.027.

Claverie Martin F, Trujillo Suareza J, Gonzalez Acostaa H, Aparicio C, Roldan MLJ, Stiburkova B, et al. URAT1 and GLUT9 mutations in Spanish patients with renal hypouricemia. Clin Chim Acta. 2018; 481: 83-89. DOI:10.1016/j.cca.2018.02.030.

Blanco MS, Flores J, Perez D, Morales JM, Gainza J, Marcen R, et al. Pre-transplant antibodies IgA-anti Beta 2 Glycoprotein I: A new predicto of early graft thrombosis after renal transplantation in the real medicine setting. An observational, multicenter and prospective study. Transplantation. 2018; 102(7): 189-189

Morales JM, Marcen R, Anaya F, Andres A, Arias M, Bustamante J, et al. Different Patterns of Risk Factors for Mortality according Recipient Age after Renal Transplantation. A Multicenter and Prospective Study at Ten Years in the Clinical Practice. Transplantation. 2018; 102(7): 191-191. DOI:10.1097/01.tp.0000542837.16238.53.

Cacha CJ, Gay NP, Sellares J, Guirado L, Roncero FG, Jimenez C, et al. Apolipoprotein A-Ib as Biomarker of FSGS Recurrence After Kidney Transplantation: Diagnostic Performance in a Prospective Cohort and Assessment of its Prognostic Value. Transplantation. 2018; 102(7): 8-9. DOI:10.1097/01.tp.0000542545.44531.04.

Gonsalez Corvillo C, San Millan JCR, Reig JE, Alonso A, Benot AR, Hernandez D, et al. Hepatitis C Virus Infection in Kidney Transplant Recipients: Final Results from a Spanish Multicenter Study. Transplantation. 2018; 102(7): 165-165. DOI:10.1097/01.tp.0000542799.06175.af.

Garcia Castano A, Madariaga L, Azriel S, de Nanclares GP, de LaPiscina IM, Martinez R, et al. Identification of a novel large CASR deletion in a patient with familial hypocalciuric hypercalcemia. Endocrinol Diabetes Metab Case Rep. 2018. DOI:10.1530/EDM-18-0114.

Portoles J, Perez Saez MJ, Janeiro D, Hernandez D, Juega J, Moreso F, et al. Early Outcomes and Risk Factors for Kidney Transplantation with Controlled Circulatory Death Donor (cDCD) in a Nationwide Strategy. Spanish Multicentre SENTRA-GEODAS-Group. Transplantation. 2018; 102: 32-33. DOI:10.1097/01.tp.0000542584.88487.69.

MADARIAGA DOMINGUEZ L, GARCIA CASTAÑO A, ARICETA IRAOLA MªG, MARTINEZ SALAZAR RM, AGUAYO CALCENA AA, CASTAÑO GONZALEZ LA. Variable phenotype in HNF1B mutations: extrarenal manifestations distinguish affected individuals from the population with congenital anomalies of the kidney and urinary tract. Clin Kidney J. 2019; 12(3): 373-379. DOI:10.1093/ckj/sfy102.

García Castaño A, Pérez de Nanclares G, Madariaga L, Aguirre M, Madrid Á, Chocrón S, et al. Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome. PLoS One. 2017; 12(3). DOI:10.1371/journal.pone.0173581.

Vázquez Sánchez V, Gozalo García A, Sáez Garmendia F. A Case of Angioinvasive Aspergillosis. Arch Bronconeumol. 2017; 53(5): 273-273. DOI:10.1016/j.arbres.2016.09.013.

Madariaga L, Herrero M, Aguirre M, Gondra L, Garcia N, Len JC, et al. Clinical manifestations and genotype-phenotype correlation in a cohort of patiens with mutations in the HNF1B gene. Pediatr Nephrol. 2017; 32(5): 905-905

Espino M, Pena A, Izquierdo E, Vazquez martul M, Herrero M, Zarauza A, et al. IDIOPATHIC MEMBRANOUS NEPHROPATHY IN CHILDHOOD. Pediatr Nephrol. 2017; 32(9): 1752-1752

Franco A, Hernandez D, Maruri N, Alonso A, Crespo M, Mazuecos A, et al. Lymphoproliferative Disorders After Renal Transplantation Along Two Decades: A Large Longitudinal Study. Am J Transplant. 2017; 17: 700-701

Axpe IR, Velasco JA, Garcia JGB, Gallardo J, Goni BM. Hypomagnesemia: a Treatable Cause of Ataxia with Cerebellar Edema. Cerebellum. 2017; 16(5-6): 988-990. DOI:10.1007/s12311-017-0873-6.

Gil Pena H, Coto E, Santos F, Espino M, Cea Crespo JM, Chantzopoulos G, et al. A new SLC12A3 founder mutation (p.Va1647Met) in Gitelman's syndrome patients of Roma ancestry. Nefrologia. 2017; 37(4): 423-428. DOI:10.1016/j.nefro.2017.01.007.

Amenabar JJ, Camacho JA, Gomez Larrambe N, Visus T, Pijoan JI, Gonzalez del Tanago J, et al. Prognostic utility of preimplantation kidney biopsy from deceased older donors in first year post-transplant renal function. Nefrologia. 2016; 36(1): 33-41. DOI:10.1016/j.nefro.2015.10.009.

Gentil MA, Gonzalez Corvillo C, Perello M, Zarraga S, Jimenez Martin C, Lauzurica LR, et al. Hepatitis C Treatment With Direct-Acting Antivirals in Kidney Transplant: Preliminary Results From a Multicenter Study. Transplant Proc. 2016; 48(9): 2944-2946. DOI:10.1016/j.transproceed.2016.07.034.

Portoles J, Perez Saez MJ, Lafuente O, Hernandez Marrero D, Diekmann F, Sanchez Sobrino B, et al. CONTROLLED CARDIAC DEATH DONOR (CDCD) STRATEGY FOR KIDNEY TRANSPLANTATION. SPANISH MULTICENTER EXPERIENCE AFTER TWO YEARS OF FOLLOW-UP. SENTRA-GEODAS-GROUP. Nephrol Dial Transplant. 2016; 31(1): 319-319

Portoles Perez J, Lafuente O, Sanchez Sobrino B, Perez Saez MJ, Fernandez Garcia A, Llamas F, et al. Kidney Transplantation With Organs From Donors After Circulatory Death Type 3: A Prospective Multicentric Spanish Study (GEODAS 3). Transplant Proc. 2015; 47(1): 27-29. DOI:10.1016/j.transproceed.2014.12.008.

Ariceta G, Lara E, Camacho JA, Oppenheimer F, Vara J, Santos F, et al. Cysteamine (Cystagon (R)) adherence in patients with cystinosis in Spain: successful in children and a challenge in adolescents and adults. Nephrol Dial Transplant. 2015; 30(3): 475-480. DOI:10.1093/ndt/gfu329.

Seron D, Alonso A, Gainza J, Mazuecos A, Gonzalez E, Kanter J, et al. LACK OF ADHERENCE TO IMUNOSUPRESSIVE TREATMENT IN KIDNEY TRANSPLANT PATIENTS: ESTIMATION OF ASSOCIATED HEALTH RESOURCE UTILIZATION. Value Health. 2015; 18(3): 189-189. DOI:10.1016/j.jval.2015.03.1094.

Seron D, Alonso A, Gainza J, Mazuecos A, Gonzalez E, Kanter J, et al. LACK OF ADHERENCE TO IMMUNOSUPRESSIVE TREATMENT IN KIDNEY TRANSPLANT PATIENTS: ESTIMATION OF ASSOCIATED DIRECT MEDICAL COSTS. Value Health. 2015; 18(3): 188-188. DOI:10.1016/j.jval.2015.03.1087.

Ariceta G, Andrade F, Martinez indart L, Isabel Ezquerro A, Saez F, Jose Aldamiz echevarria L. FGF23 AND SDMA LEVELS CORRELATION IN CHILDREN WITH CKD INDICATE CARDIOVASCULAR INVOLVEMENT BEYOND MINERAL DISTURBANCES. Pediatr Nephrol. 2015; 30(9): 1608-1609

Garcia Castano A, Perez de Nanclares G, Madariaga L, Aguirre M, Chocron S, Madrid A, et al. Novel mutations associated with nephrogenic diabetes insipidus. A clinical-genetic study. Eur J Pediatr. 2015; 174(10): 1373-1385. DOI:10.1007/s00431-015-2534-4.

Herrero Goni M, Aguirre MeNica M, Chavarri E, Madariaga Dominguez L, Garcia Perez N, Quintela Perez MJ. NEW USES OF RASBURICASE?. Pediatr Nephrol. 2015; 30(9): 1568-1569

Herrero Goni M, Aguirre MeNica M, Madariaga Dominguez L, Garcia Perez N, Quintela Perez MJ. REVERSIBLE NEONATAL NEPHROCALCINOSIS. Pediatr Nephrol. 2015; 30(9): 1707-1707

Dufek S, Holtta T, Fischbach M, Ariceta G, Jankauskiene A, Schmitt CP, et al. PLEURAL-PERITONEAL OR PERICARDIO-PERITONEAL LEAK IN CHILDREN ON PERITONEAL DIALYSIS - A SURVEY FROM THE EUROPEAN PAEDIATRIC DIALYSIS WORKING GROUP. Nephrol Dial Transplant. 2015; 30(3). DOI:10.1093/ndt/gfv143.2.

Franco A, Hernandez D, Alonso A, Burgos D, Zarraga S, Crespo M, et al. LYMPHOPROLIFERATIVE DISORDERS AFTER RENAL TRANSPLANTATION: A LARGE LONGITUDINAL STUDY OF 21546 RECIPIENTS. Transpl Int. 2015; 28(4, SI): 69-69

Portoles J, Lafuente O, Ruiz P, Sanchez Sobrino B, Perez Saez MJ, de Souza E, et al. KIDNEY TRANSPLANTATION WITH ORGANS FROM CONTROLLED DONORS AFTER CIRCULATORY DEATH: EARLY REPORT FROM SPANISH MULTICENTRE EXPERIENCE. Nephrol Dial Transplant. 2015; 30(3). DOI:10.1093/ndt/gfv185.38.

Dufek S, Holtta T, Fischbach M, Ariceta G, Jankauskiene A, Cerkauskiene R, et al. Pleuro-peritoneal or pericardio-peritoneal leak in children on chronic peritoneal dialysis-A survey from the European Paediatric Dialysis Working Group. Pediatr Nephrol. 2015; 30(11): 2021-2027. DOI:10.1007/s00467-015-3137-z.

Dufek S, Holtta T, Fischbach M, Ariceta G, Jankauskiene A, Cerkauskiene R, et al. PLEURAL-PERITONEAL OR PERICARDIO-PERITONEAL LEAK IN CHILDREN ON CHRONIC PERITONEAL DIALYSIS - A SURVEY FROM THE EUROPEAN PAEDIATRIC DIALYSIS WORKING GROUP. Pediatr Nephrol. 2015; 30(9): 1634-1635

Hayek DE, 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; 81(2): 142-145. DOI:10.5414/CN107505.

AMENABAR IRIBAR JJ, ARICETA IRAOLA MªG. Estrategias en la prevención y tratamiento de la enfermedad por citomegalovirus en pacientes con trasplante renal. Análisis de la evidencia y recomentadiones de consenso del grupo prometeo. Nefrologia. 2014

AMENABAR IRIBAR JJ, ARICETA IRAOLA MªG. Estrategias en la prevención y tratamiento de la enfermedad por citomegalovirus en pacientes con trasplante renal. Análisis de la evidencia y recomentadiones de consenso del grupo prometeo. Nefrologia. 2014

Fernandez A, Burgos D, Alonso A, Ruiz J, Sanchez Fructuoso A, Gomez E, et al. Influence of the First Graft Nephrectomy in the Evolution of Second Kidney Transplant. Early VS Late?. Transplantation. 2014; 98(1): 109-109. DOI:10.1097/00007890-201407151-00337.

Franco A, Crespo M, Burgos D, Alonso A, Zarraga S, Sanchez A, et al. Any Change in Postransplant Lymphoproliferative Disorders in The Last Two Decades? A Study of 24756 Renal Recipients Tell Us. Transplantation. 2014; 98(1): 243-244. DOI:10.1097/00007890-201407151-00728.

Marcen R, Arias M, Gainza de los Rios F, Morales J, Oppenheimer F, Seron D, et al. The Influence of Pre-Transplant Dialysis Modality On Patient and Graft Survival After Kidney Transplantation. Transplantation. 2014; 98(1): 636-636. DOI:10.1097/00007890-201407151-02151.

Guirado L, Cantarell C, Franco A, Burgos D, Fernandez A, Mazuecos M, et al. Long-Term Renal Function in a Large Cohort of Stable Transplant Recipients Converted from Twice-Daily to Once-Daily Tacrolimus. Transplantation. 2014; 98(1): 665-665. DOI:10.1097/00007890-201407151-02252.

Fernandez A, Burgos D, Alonso A, Ruiz J, Sanchez Fructuoso A, Gomez E, et al. Influence of the First Graft Nephrectomy in the Evolution of Second Kidney Transplant. Early VS Late?. Am J Transplant. 2014; 14(3): 109-109

Franco A, Crespo M, Burgos D, Alonso A, Zarraga S, Sanchez A, et al. Any Change in Postransplant Lymphoproliferative Disorders in The Last Two Decades? A Study of 24756 Renal Recipients Tell Us. Am J Transplant. 2014; 14(3): 243-244

Marcen R, Arias M, Gainza de los Rios F, Morales J, Oppenheimer F, Seron D, et al. The Influence of Pre-Transplant Dialysis Modality On Patient and Graft Survival After Kidney Transplantation. Am J Transplant. 2014; 14(3): 636-636

Gomez Perez C, Mujika Lopez A, Visus Fernandez de Manzanos T, Alvarez Quintana E, Gainza de Los Rios FJ, Gomez Larrambe N. Acute renal failure due to haemoglobinuria secondary to P antigen. Nefrologia. 2014; 34(2): 265-266. DOI:10.3265/Nefrologia.pre2013.Dec.12279.

Forbes TA, Watson AR, Zurowska A, Shroff R, Bakkaloglu S, Vondrak K, et al. Adherence to transition guidelines in European paediatric nephrology units. Pediatr Nephrol. 2014; 29(9): 1617-1624. DOI:10.1007/s00467-014-2809-4.

Claverie Martin F, Gonzalez Acosta H, Perdomo Ramirez A, Aguirre M, Mueller D, Ariceta G, et al. Familial Hypomagnesemia With Hypercalciuria And Nephrocalcinosis: New Cases And Novel Cldn16 And Cldn19 Mutations. Pediatr Nephrol. 2014; 29(9): 1820-1820

Ramos trujillo E, Lucas Saez ME, Gonzalez acosta H, Suarez artiles L, Fijo J, Madariaga L, et al. Two Novel Mutations In The Chloride/proton Clc-5 Exchanger Gene Of Patients With Dent's Disease. Pediatr Nephrol. 2014; 29(9): 1697-1698

Herrero Goni M, Aguirre Menica M, Lopez Gomez R, Munoz Garcia NP, Garcia Perez N, Madariaga Dominguez L, et al. Leptospirosis As Cause Of Acute Renal Insufficiency. Pediatr Nephrol. 2014; 29(9): 1841-1841

Herrero Goni M, Salazar Merino J, Munoz Garcia NP, Sanchez Ramos N, Aguirre Menica M, Vazquez Ronco MA, et al. Rickettsiosis As Cause Of Acute Postinfectious Glomerulonephritis?. Pediatr Nephrol. 2014; 29(9): 1729-1729

Herrero Goni M, Aguirre Menica M, Garcia Perez N, Echevarri E, Quintela Perez MJ. Use Of Rasburicase In Acute Renal Insufficiency In Transplanted Patients. Pediatr Nephrol. 2014; 29(9): 1755-1755

Aguirre M, Barrado M, Paulis M, Leiza JR. (Cryo)-TEM Assessment of Droplet Nucleation Efficiency in Hybrid Acrylic/CeO2 Semibatch Miniemulsion Polymerization. Macromolecules. 2014; 47(23): 8404-8410. DOI:10.1021/ma5021193.

Muehlbacher F, Neumayer H, del Castillo D, Stefoni S, Zygmunt AJ, Budde K, et al. The efficacy and safety of cyclosporine reduction in de novo renal allograft patients receiving sirolimus and corticosteroids: results from an open-label comparative study. Transpl Int. 2014; 27(2): 176-186. DOI:10.1111/tri.12228.

Guirado L, Cantarell C, Franco A, Burgos D, Fernandez A, Mazuecos M, et al. Long-Term Renal Function in a Large Cohort of Stable Transplant Recipients Converted from Twice-Daily to Once-Daily Tacrolimus. Am J Transplant. 2014; 14(3): 665-665

Watson AR, Hayes WN, Vondrak K, Ariceta G, Schmitt CP,Ekim M, Fischbach M, Edefonti A, Shroff R, Holta T, Zurowska A, Klaus G, Bakkaloglu S, Stefanidos C, Van de Walle J, European Paediat Dialysis Working. Factors influencing choice of renal replacement therapy in European Paediatric Nephrology Units. Pediatr Nephrol. 2013;28: 2361-8. FI: 2,939(Q1)

Elhayek D, Perez de Nanclares G, Chouchane S, Hamami S, Mlika A, Troudi M, Leban N, BenRomdane W, Gueddiche MN, El Amri F, Mrabet S, Ben Chibani J, Castano L, Khelil AH, Ariceta G. 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:-0. FI: 2,536(Q3)

Dominguez Garcia A, Castano 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: 319-24. FI: 0,867(Q3)

Garcia Castano A, Perez de Nanclares G, Madariaga L, Aguirre M, Madrid A, Nadal I, Navarro M, Lucas E, Fijo J, Espino M, Espitaletta Z, Castano L, Ariceta G, RenalTube Grp. Genetics of Type III Bartter Syndrome in Spain, Proposed Diagnostic Algorithm. PLoS One 2013. 8:-0. FI: 3,730(Q1)

Madariaga L, Garcia-Castano A, Perez-Nanclares G, Nadal I, Aguirre M, Castano L, Ariceta G, Grp RENALTUBE. Long term prognosis of our cohort of patients with genetically confirmed Barttersyndrome (BS) type II & III. Pediatr Nephrol. 2013; 28: 1889-90. FI: 2,939(Q1)

Gil-Pena H, Renaltube Grp. RenalTube: Online website-based collaborative effort for the clinical and molecular study of primary tubular disorders. Pediatr Nephrol. 2013;28: 1466-0. FI:2,939(Q1)

Shroff R, Stefanidis CJ, Askiti V, Edefonti A, Testa S, Ekim M, Kavaz A, Ariceta G, Bakkaloglu S,Fischbach M, Klaus G, Zurowska A, Holtta T, Jankauskiene A, Vondrak K, Vande Walle J, SchmittCP, Watson AR. Encapsulating peritoneal sclerosis in children onchronic PD: a survey from theEuropean Paediatric Dialysis Working Group.Nephrol. Dial. Transplant.2013. 28: 1908-1914.FI: 3,371(Q1)

Mejia N, Santos F, Claverie-MartinF, Garcia-NietoV, AricetaG, CastanoL.RenalTube Grp.RenalTube: a network tool for clinical and genetic diagnosis of primary tubulopathies. Eur JPediatr. 2013;172: 775-80. FI: 1,907(Q2)

ShroffR,StefanidisC,EdifontiA,EkimM,AricetaG,BakkalogluS,FischbachM,KlausG,ZurowskaA,SchmittCP,WatsonA.Encapsulating peritonealsclerosis in children on chronic pd-a survey from the european paediatric dialysis working GROUP.Nephrol DialTransplant.2013;28: 6-7. FI: 3,371(Q1)

Claverie-MartinF,Garcia-NietoV,LorisC,AricetaG,NadalI,EspinosaL,Fernandez-Maseda A,Anton-GameroM,AvilaA,MadridA,Gonzalez-AcostaH,Cordoba-LanusE,SantosF, Gil-Calvo M,EspinoM,Garcia-MartinezE,SanchezA,MuleyR,RenalTube Grp.Claudin-19 Mutations and Clinical Phenotype in Spanish Patients with Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis. PLoS One.2013;8:-0.FI: 3,730(Q1)

Tesis del grupo

Autor/a: Leire Gondra Sangroniz. Título: "Evolución clínica de los pacientes con síndrome de Bartter tipo III". Directores/as: Dr. Luis Antonio Castaño González, Dra. Leire Madariaga Domínguez.

Autor/a: Leire Madariaga Domínguez. Título: "Anomalías asociadas a mutaciones en el gen HNF1B en dos cohortes de pacientes: descripción fenotípica y correlación genotipo-fenotipo". Directores: Dra. Gema Ariceta Iraola, Dr. Luis Castaño González. UPV/EHU

Autor/a: Alejandro García Castaño. Título: "Caracterización clínico genética del Síndrome de Bartter tipo III: correlación fenotipo-genotipo". Directores: Dra. Gema Ariceta Iraola, Dr. Luis Castaño González. UPV/EHU

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