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7. Case report: combined liver-kidney transplantation to correct a mutation in complement factor B in an atypical Hemolytic Uremic Syndrome patient

Author

Comunidad de Madrid, López-Trascasa, Margarita [0000-0001-8594-282X], Melgosa, Marta [0000-0001-6236-414X], Espinosa-Román, Laura [0000-0002-1668-3622], García-Fernández, Eugenia [0000-0002-3850-1906], Rodríguez de Córdoba, Santiago [0000-0001-6401-1874], Sánchez-Corral, Pilar [0000-0003-4212-1233], López-Trascasa, Margarita, Alonso-Melgar, Ángel, Melgosa, Marta, Espinosa-Román, Laura, Lledín-Barbancho, María Dolores, García-Fernández, Eugenia, Rodríguez de Córdoba, Santiago, Sánchez-Corral, Pilar, Comunidad de Madrid, López-Trascasa, Margarita [0000-0001-8594-282X], Melgosa, Marta [0000-0001-6236-414X], Espinosa-Román, Laura [0000-0002-1668-3622], García-Fernández, Eugenia [0000-0002-3850-1906], Rodríguez de Córdoba, Santiago [0000-0001-6401-1874], Sánchez-Corral, Pilar [0000-0003-4212-1233], López-Trascasa, Margarita, Alonso-Melgar, Ángel, Melgosa, Marta, Espinosa-Román, Laura, Lledín-Barbancho, María Dolores, García-Fernández, Eugenia, Rodríguez de Córdoba, Santiago, and Sánchez-Corral, Pilar

Abstract

Pathogenic gain-of-function variants in complement Factor B were identified as causative of atypical Hemolytic Uremic syndrome (aHUS) in 2007. These mutations generate a reduction on the plasma levels of complement C3. A four-month-old boy was diagnosed with hypocomplementemic aHUS in May 2000, and he suffered seven recurrences during the following three years. He developed a severe hypertension which required 6 anti-hypertensive drugs and presented acrocyanosis and several confusional episodes. Plasma infusion or exchange, and immunosuppressive treatments did not improve the clinical evolution, and the patient developed end-stage renal disease at the age of 3 years. Hypertension and vascular symptoms persisted while he was on peritoneal dialysis or hemodialysis, as well as after bilateral nephrectomy. C3 levels remained low, while C4 levels were normal. In 2005, a heterozygous gain-of-function mutation in Factor B (K323E) was found. A combined liver and kidney transplantation (CLKT) was performed in March 2009, since there was not any therapy for complement inhibition in these patients. Kidney and liver functions normalized in the first two weeks, and the C3/C4 ratio immediately after transplantation, indicating that the C3 activation has been corrected. After remaining stable for 4 years, the patient suffered a B-cell non-Hodgkin lymphoma that was cured by chemotherapy and reduction of immunosuppressive drugs. Signs of liver rejection with cholangitis were observed a few months later, and a second liver graft was done 11 years after the CLKT. One year later, the patient maintains normal kidney and liver functions, also C3 and C4 levels are within the normal range. The 12-year follow-up of the patient reveals that, in spite of severe complications, CLKT was an acceptable therapeutic option for this aHUS patient.

Published
2021

8. Diagnostic and therapeutic management of vesico-ureteral reflux in pediatric kidney transplantation-Results of an online survey on behalf of the European Society for Paediatric Nephrology

Author

Murer, Luisa, Knops, Noël, de Jong, Huib, Konrad, Martin, Levtchenko, Elena, Jankauskiene, Augustina, Madrid-Aris, Alvaro, Marks, Stephen D., Mattoo, Tej K., Maxted, Andrew, Jahnukainen, Timo, Hooman, Nakisa, Higueras, Walter, Goñi, Maria Herrero, Herthelius, Maria, Henne, Thomas, Grenda, Ryszard, Gessner, Michaela, Gander, Romy, Zirngibl, Matthias, Galiano, Matthias, Fila, Marc, Espinosa-Román, Laura, Esfandiar, Nasrin, Dinçel, Nida Temizkan, Kılıç, Beltinge Demircioğlu, Buder, Kathrin, Dehoux, Laurène, Cornelissen, Marlies, Clothier, Joanna, Cicek, Neslihan, Christian, Martin, Bulum, Burcu, Büscher, Anja, Melgosa-Hijosa, Marta, Luithle, Tobias, Tönshoff, Burkhard, Weitz, Marcus, Zieg, Jakub, Yüksel, Selçuk, Yıldız, Nurdan, Yap, Yok-Chin, Yalçınkaya, Fatma Fatoş, Weber, Lutz T., Mincham, Christine Marie, Alonso-Melgar, Ángel, Ariceta, Gema, Mitsioni, Andromachi, Montini, Giovanni, Awan, Atif, Morgan, Henry, Bakkaloglu, SEVCAN AZİME, Baskin, Esra, Vidal, Enrico, Bekassy, Zivile, Bhimma, Rajendra, Verrina, Enrico Eugenio, Bitzan, Martin, Aki, Fazil Tuncay, Tse, Yincent, Tschumi, Sibylle, Trnka, Peter, Bjerre, Anna Kristina, Torres, Diletta, Topaloğlu, Rezan, Bootsma-Robroeks, Charlotte M., Thumfart, Julia, Teixeira, Ana, Bouts, Antonia, Tasic, Velibor, Taşdemir, Mehmet, Stabouli, Stella, Sinha, Rajiv, Silva, Ana Cristina Simões E., Shenoy, Mohan, Seeman, Tomas, Rus, Rina, Rumyantsev, Alexander, Rubik, Jacek, Roussinov, Dimitar, Reynolds, Ben, Prytula, Agnieszka, Printza, Nikoleta, Parvex, Paloma, Pape, Lars, Özçakar, Z Birsin, Müller-Sacherer, Thomas, Pediatrics, Paediatric Nephrology, and ARD - Amsterdam Reproduction and Development

Subjects
Transplantation, therapy, vesico-ureteral reflux, Pediatrics, Perinatology and Child Health, online survey, febrile urinary tract infection, pediatric kidney transplantation, ureteral implantation
Abstract

© 2022 The Authors. Pediatric Transplantation published by Wiley Periodicals LLC.Background: Vesico-ureteral reflux (VUR) is considered to be a risk factor for recurrent febrile urinary tract infections and impaired renal transplant survival. Methods: An online survey supported by the European Society for Paediatric Nephrology was designed to evaluate current management strategies of VUR in native and transplanted kidneys of recipients aged

Published
2022
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10. Case Report: Combined Liver-Kidney Transplantation to Correct a Mutation in Complement Factor B in an Atypical Hemolytic Uremic Syndrome Patient

Author

López-Trascasa, Margarita, primary, Alonso-Melgar, Ángel, additional, Melgosa-Hijosa, Marta, additional, Espinosa-Román, Laura, additional, Lledín-Barbancho, María Dolores, additional, García-Fernández, Eugenia, additional, Rodríguez de Córdoba, Santiago, additional, and Sánchez-Corral, Pilar, additional

Published
2021
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15. Autores

Author

Alcobendas Rueda, Rosa, Alcolea Sánchez, Alida, Alonso García, Luis A., Alonso Melgar, Ángel, Alonso Prieto, Mercedes, Álvarez Román, M.ª Teresa, Aracil Santos, Francisco Javier, Ballesteros Moya, Estefanía, Baquero Artigao, Fernando, Barreda Bonis, Ana Coral, Barrio Gómez de Agüero, M.ª Isabel, Barrios Machiain, Ursino, Bote Gascón, Patricia, Bravo Feito, Juan, Bueno Barriocanal, Marta, Burgos Lucena, Laura, Bustamante Amador, Jorge, Cabello Blanco, Juan, Cabrera Lafuente, Marta, Calle Gómez, Ángeles, Calvo Rey, Cristina, Camarena Grande, Carmen, Carceller Benito, Fernando, Cartón Sánchez, Antonio, Castaño Andreu, Elisa, Climent Alcalá, Francisco J., Cuesta Rodríguez, Marian, De Andrés Baeza, Paloma, De Ceano-Vivas, María, De la Torre Ramos, Carlos, De Lucas García, Nieves, De Lucas Laguna, Raúl, Deiros-Bronte, Lucía, Del Castillo Martín, Fernando, Del Rosal Rabes, M.ª Teresa, Delgado Díez, Belén, Díaz Fernández, Carmen, Diz-Lois Palomares, Cristina, Dorado de Regil, Marta, Dorao Romillo, Paloma, Elorza Fernández, María Dolores, Escosa García, Luis, Espinosa Román, Laura, Estepa Fernández, Victoria, Fernández Camblor, Carlota, Ferrán Campillo, Luis, Ferreira Pou, Erika, Fiorita, Filippo, Fuentes Gimeno, Blanca, García-Arenzana, Nicolás, García Ascaso, Marta, García Fernández-Villalta, Marta, García García, Santos, García Guereta, Luis, García Guixot, Sara, García Lasheras, Cristina, García López-Hortelano, Milagros, García-Mauriño, Cristina, García Meseguer, Carmen, García Nardiz, Cristina, García Sánchez, Paula, Goded Rimbaud, Federico, Gómez Zamora, Ana, González Benítez, Cristina, González Bertolín, Isabel, González Casado, Isabel, González Hernando, María Luisa, González Morán, Gaspar, González Sacristán, Rocío, Goycochea Valdivia, Walter A., Guerrero Fernández, Julio, Hernández Gutiérrez, Alicia, Hernández Palomo, Rosa, Herrera Castillo, Laura, Itza Martín, Nerea, Jara Vega, Paloma, Jiménez Yuste, Víctor, Laita de Roda, Paula, Laura Fernández, Ana, Lázaro de Lucas, Carmen, López Carrasco, Ana, López López, M.ª del Rosario, López Ortego, Paloma, López Pereira, Pedro, María Eugenia, Martín Maldonado, Martín Sánchez, Julia, Martínez Bermejo, Antonio, Martínez Martínez, Leopoldo, Martínez-Ojínaga, Eva, Martínez Urrutia, M.ª José, Melgosa Hijosa, Marta, Mellado Peña, M.ª José, Méndez Echevarría, Ana, Menéndez Suso, Juan J., Molina Gutiérrez, Miguel Á., Montejano Milner, Rafael, Mora Palma, Cristina, MorÁis López, Ana, Moraleda Cobo, Luis, Moreno Sánchez, Francisco J., Moreno Sanz-Gadea, Bárbara, Muñoz Bartolo, Gema, Muñoz Muñiz, M.ª del Mar, Murcia Zorita, Francisco Javier, Murias Loza, Sara, Nebreda Pérez, Verónica, Noci Belda, Jesús, Núñez Cerezo, Vanesa, Ots Ruiz, Cristina, Peña Carrión, Antonia, Peralta Calvo, Jesús, Pérez Mora, Rosa María, Plaza López de Sabando, Diego, Reinoso Barbero, Francisco, Remesal Camba, Agustín, Reyero Farreras, Andrea, Robustillo Rodela, Ana, Romero Amor, Elena, Rubio Aparicio, Pedro, Rubio Sánchez-Tirado, Mercedes, Ruiz Domínguez, José A., Saceda Gutiérrez, Javier M., Sáinz Costa, Talía, Salamanca Fresno, Luis, Salas Bolívar, Patricia, Salcedo Montejo, María, Salmerón Ruiz, María, Sánchez Galán, Alba, Sanromán Pacheco, Sonsoles, Santos Simarro, Guillermo, Sanz González, Paloma, Sarría Oses, Jesús, Sastre Urgelles, Ana, Schüffelmann Gutiérrez, Cristina, Tirado Requero, Pilar, Torres Deulofeu, Clara, Udaondo Gascón, Clara, Vacas del Arco, Beatriz, Valverde Núñez, Eva, Vara Izquierdo, Teresa, Vega Benito Sánchez, Andrea, Velázquez Fragua, Ramón, Verdú Sánchez, Cristina, Yan Tong, Hoi, and Zarauza Santoveña, Alejandro

Published
2020
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16. Citomegalovirus y trasplante renal pediátrico: ¿es un problema actualmente?

Author

Fijo-López-Viota, Julia, Espinosa-Román, Laura, Herrero-Hernando, Carlos, Sanahuja-Ibáñez, M. José, Vila-Santandreu, Anna, and Praena-Fernández, Juan M.

Subjects
Citomegalovirus, Cytomegalovirus, Trasplante renal pediátrico, Paediatric renal transplant
Abstract

Objetivo: Estudio retrospectivo observacional multicéntrico de los pacientes trasplantados renales pediátricos, para conocer la situación actual frente al citomegalovirus (CMV), antes de participar en un ensayo clínico internacional de profilaxis durante 6 meses. Material y métodos: Se incluyen 239 pacientes menores de 19 años, procedentes de 5 centros entre 2005-2009, con seguimiento de 1 año. Resultados: La serología frente al CMV era negativa en 54 % de los receptores y 34,7 % de los donantes. Sesenta pacientes (25,1 %) fueron considerados de alto riesgo [Donante (D)+/Receptor (R)-] para infección por CMV. El 80,8 % realizó algún tipo de profilaxis, incluyendo todos los pacientes de alto riesgo, un tiempo medio de 65,5 días. La incidencia de positivización de CMV fue del 24,26 % (58 pacientes de los 239 trasplantados), con una incidencia de enfermedad del 6,7 %. La infección por CMV se asociaba con el estatus serológico (D/R) (p < 0,001), con la seropositividad del donante (p < 0,001) y con un tiempo de profilaxis < 20 días (p < 0,05). No hubo ningún caso de éxitus o pérdida del injerto secundaria a la infección, ni de resistencia al tratamiento. Conclusiones: La principal estrategia preventiva frente al CMV en el trasplante renal pediátrico en nuestro país es la quimioprofilaxis (81 %), con una incidencia de CMV del 24 % y de enfermedad del 6,7%, sin graves efectos directos ni indirectos en el primer año postrasplante. Su incidencia está relacionada, fundamentalmente, con el estatus serológico D/R y con la seropositividad del donante. Objective: An observational retrospective multicentre study of kidney transplants in paediatric patients was performed to evaluate the current situation of cytomegalovirus (CMV) in this population, before our participation in an international clinical trial of prophylaxis for 6 months. Material and method: Our study included 239 patients aged

Published
2013

17. Salud oral en el niño trasplantado renal

Author

Nova García, Manuel Joaquín, Espinosa Román, Laura, Albajara Velasco, Luis, Martín Muñoz, Fátima, Nova García, Manuel Joaquín, Espinosa Román, Laura, Albajara Velasco, Luis, and Martín Muñoz, Fátima

Published
2014

18. Evolución de la función renal en pacientes con válvulas de uretra posterior: análisis de factores predictivos; director Enrique Jaureguizar Monereo

Author

Espinosa Román, Laura, Jaureguizar Monereo, Enrique, and Universidad Autónoma de Madrid. Departamento de Pediatría

Subjects
Uretra - Malformaciones en el niño - Cirugía - Tesis doctorales, Uretra - Obstrucción en el niño - Pronóstico - Tesis doctorales
Abstract

Tesis doctoral inédita leída en la Universidad Autónoma de Madrid, Facultad de Medicina, Departamento de Pediatría. Fecha de lectura: 11 de Abril de 2008

Published
2008

19. Limited sampling strategies for tacrolimus exposure (AUC0-24) prediction after Prograf®and Advagraf®administration in children and adolescents with liver or kidney transplants

Author

Almeida-Paulo, Gonzalo N., primary, Lubomirov, Rubin, additional, Alonso-Sanchez, Nazareth Laura, additional, Espinosa-Román, Laura, additional, Fernández Camblor, Carlota, additional, Díaz, Carmen, additional, Muñoz Bartola, Gema, additional, and Carcas-Sansuán, Antonio J., additional

Published
2014
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20. Salud oral en el niño trasplantado renal

Author

Martín Muñoz, Fátima, Nova García, Manuel Joaquín, Espinosa Román, Laura, Albajara Velasco, Luis, Martín Muñoz, Fátima, Nova García, Manuel Joaquín, Espinosa Román, Laura, and Albajara Velasco, Luis

Published
2013

22. Case Report: Combined Liver-Kidney Transplantation to Correct a Mutation in Complement Factor B in an Atypical Hemolytic Uremic Syndrome Patient

Author

Margarita López-Trascasa, Ángel Alonso-Melgar, Marta Melgosa-Hijosa, Laura Espinosa-Román, María Dolores Lledín-Barbancho, Eugenia García-Fernández, Santiago Rodríguez de Córdoba, Pilar Sánchez-Corral, Comunidad de Madrid, López-Trascasa, Margarita [0000-0001-8594-282X], Melgosa, Marta [0000-0001-6236-414X], Espinosa-Román, Laura [0000-0002-1668-3622], García-Fernández, Eugenia [0000-0002-3850-1906], Rodríguez de Córdoba, Santiago [0000-0001-6401-1874], Sánchez-Corral, Pilar [0000-0003-4212-1233], López-Trascasa, Margarita, Melgosa, Marta, Espinosa-Román, Laura, García-Fernández, Eugenia, Rodríguez de Córdoba, Santiago, and Sánchez-Corral, Pilar

Subjects
medicine.medical_specialty, medicine.medical_treatment, Immunology, Complement, Case Report, Complement factor B, Gastroenterology, Peritoneal dialysis, combined liver-kidney transplantation, Internal medicine, Atypical hemolytic uremic syndrome, factor B, medicine, Immunology and Allergy, complement, Factor B, Atypical Hemolytic Uremic Syndrome, Combined liver-kidney transplantation, Kidney, Chemotherapy, Acrocyanosis, business.industry, atypical hemolytic uremic syndrome, rare diseases, RC581-607, medicine.disease, Rare diseases, Transplantation, medicine.anatomical_structure, Hemodialysis, Immunologic diseases. Allergy, business
Abstract

Pathogenic gain-of-function variants in complement Factor B were identified as causative of atypical Hemolytic Uremic syndrome (aHUS) in 2007. These mutations generate a reduction on the plasma levels of complement C3. A four-month-old boy was diagnosed with hypocomplementemic aHUS in May 2000, and he suffered seven recurrences during the following three years. He developed a severe hypertension which required 6 anti-hypertensive drugs and presented acrocyanosis and several confusional episodes. Plasma infusion or exchange, and immunosuppressive treatments did not improve the clinical evolution, and the patient developed end-stage renal disease at the age of 3 years. Hypertension and vascular symptoms persisted while he was on peritoneal dialysis or hemodialysis, as well as after bilateral nephrectomy. C3 levels remained low, while C4 levels were normal. In 2005, a heterozygous gain-of-function mutation in Factor B (K323E) was found. A combined liver and kidney transplantation (CLKT) was performed in March 2009, since there was not any therapy for complement inhibition in these patients. Kidney and liver functions normalized in the first two weeks, and the C3/C4 ratio immediately after transplantation, indicating that the C3 activation has been corrected. After remaining stable for 4 years, the patient suffered a B-cell non-Hodgkin lymphoma that was cured by chemotherapy and reduction of immunosuppressive drugs. Signs of liver rejection with cholangitis were observed a few months later, and a second liver graft was done 11 years after the CLKT. One year later, the patient maintains normal kidney and liver functions, also C3 and C4 levels are within the normal range. The 12-year follow-up of the patient reveals that, in spite of severe complications, CLKT was an acceptable therapeutic option for this aHUS patient., ML-T, SRC, and PS-C are supported by the Spanish Autonomous Region of Madrid (Complement II-CM network; B2017/BMD-3673).

Published
2021

23. Salud oral en el niño trasplantado renal

Author

Martín Muñoz, Fátima, Nova García, Manuel Joaquín, Espinosa Román, Laura, and Albajara Velasco, Luis

Subjects
Odontología infantil
Published
2016

24. Distar Renal Tubular Acidosis (dRTA): Epidemiological, diagnostics, clinical follow-up and therapeutical issues. Nephrologists cohort survey outcome.

Author

Torregrosa Prats JV, Santos Rodríguez F, González Parra E, Espinosa Román L, Buades Fuster JM, Monteagud-Marrahí E, and Navas Serrano VM

Abstract

Background and Objectives: dRTA is a genetic or acquired rare disease, characterized by an unability to excrete hydrogens (H+) into urine, hypobicarbonatemia, hyperchloremia, and frequently hypercalciuria and hypokalaemia. Genetic forms are usually diagnosed during the first months of life and its treatment is based on providing alkali supplements in order to prevent long term clinical consequences, particularly chronic kidney disease (described in some cohorts up to 82% of dRTA patients) and the associated bone disease. A 10 queries multi choice closed response survey was designed to know more about epidemiological, diagnostics, clinical management and therapeutical issues of this disease among Spanish nephrologists., Materials and Methods: This survey was delivered to the attendees to a scientific meeting on dRTA at the Spanish Nephrology Society congress in 2019. Surveys were collected at the end of this dRTA event. Results were analyzed by using a parametric statistical test, obtaining the percentage of each response for the 10 questions., Results: Among the survey responders, 44.4% and 37.7% did not visit any dRTA patient during the 1st and 3rd last year respectively. When having a suspicious diagnose, confirming genetic diagnostic test is only performed on the 13.3% of cases and pedigree studies only on 11.1%. Only a 26.6% confirms that metabolic control is excellent, good or very good, and 69% of the responders believe that treatment compliance is not bad, bad or very bad., Conclusions: This survey enhances the fact that dRTA is not a well known entity, satisfaction with metabolic control is poor and compliance is low. All these factors can lead to a higher severity of renal and bone diseases associated to dRTA., (Copyright © 2020 Sociedad Española de Nefrología. Published by Elsevier España, S.L.U. All rights reserved.)

Published
2021
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25. Cytomegalovirus and paediatric renal transplants: is this a current issue?

Author

Fijo-López-Viota J, Espinosa-Román L, Herrero-Hernando C, Sanahuja-Ibáñez MJ, Vila-Santandreu A, and Praena-Fernández JM

Subjects
Adolescent, Child, Child, Preschool, Female, Humans, Incidence, Infant, Male, Retrospective Studies, Young Adult, Cytomegalovirus Infections epidemiology, Kidney Transplantation
Abstract

Objective: An observational retrospective multicentre study of kidney transplants in paediatric patients was performed to evaluate the current situation of cytomegalovirus (CMV) in this population, before our participation in an international clinical trial of prophylaxis for 6 months., Material and Method: Our study included 239 patients aged <19 years, from 5 Spanish centres between 2005-2009, with 1 year of follow-up., Results: Pretransplant CMV serology was negative in 54% of recipients and 34.7% of donors. Sixty patients (25.1%) were considered at high risk (D+/R-) for CMV infection. Prophylaxis was used in 80.8% of recipients, including all high-risk patients, for an average time of 65.5 days. CMV viraemia occurred in 24.26% (58 cases among 239 patients), and disease in 6.7%. CMV infection was associated with serological status (D/R) (P<.001), positive serology of the donor (P<.001) and duration of prophylaxis <20 days (P<.05). There were no cases of patient or graft loss secondary to infection, nor resistance to treatment., Conclusions: The main preventative strategy against CMV in paediatric renal transplantation in our country is chemical prophylaxis (81%), with an incidence of infection and disease of 24% and 6.7%, respectively. There were no serious direct or indirect effects in the first year post-transplant. The incidence is mainly linked with serological D/R and positive donor status.

Published
2013
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26. [Children as receptors of living donors].

Author

Navarro Torres M and Espinosa Román L

Subjects
Adolescent, Adult, Age Factors, Child, Child, Preschool, Donor Selection, Humans, Patient Compliance, Treatment Outcome, Kidney Transplantation, Living Donors
Abstract

The most important factor in life expectancy for children on renal replacement therapy (RRT) is to have a functioning graft when they reach adulthood (63 years&nbsp; on transplantation vs 37 years on dialysis). The pediatric recipient is very suitable for a living donor transplantation (LDT), with few contraindications. There are several reasons that make LDT the most recommended RRT in children: pre-emptive transplant avoiding dialysis, good renal mass, minimal cold ischemia time, better HLA-matching and the possibility to program the time of surgery. Long term graft survival in LDT is significantly better than in cadaveric donor transplantation (CDT) (81.3%&nbsp; LDT vs 60.8 % CDT at 10 years follow-up). Calculated half-life graft survival for recipients aged 2-5 years reaches 27.5 years in some series, making LDT the ideal option for these children. Adolescent recipients (12-17 years) have an excellent early graft survival, but the worst long term outcome compared with the rest of pediatric population. However, preemptive LDT has a 70% of graft survival at 10 years. Late rejections episodes associated with non-adherence factors are found in all series. Unrelated LDT in pediatric recipients outcome remain unclear.

Published
2010
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