111 results on '"Torra, Roser'
Search Results
2. Reassuring pregnancy outcomes in women with mild COL4A3-5 related disease (Alport Syndrome) as the genetic type of disease can aid personalized counseling.
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Gosselink, Margriet E., primary, Snoek, Rozemarijn, additional, Cerkauskaite-Kerpauskiene, Agne, additional, van Bakel, Sophie P.J., additional, Vollenberg, Renee, additional, Groen, Henk, additional, Cerkauskiene, Rimante, additional, Miglinas, Marius, additional, Attini, Rossella, additional, Tory, Kálmán, additional, Claes, Kathleen, additional, van Calsteren, Kristel, additional, Servais, Aude, additional, de Jong, Margriet F.C., additional, Gillion, Valentine, additional, Vogt, Liffert, additional, Mastrangelo, Antonio, additional, Furlano, Monica, additional, Torra, Roser, additional, Bramham, Kate, additional, Wiles, Kate, additional, Ralston, Elizabeth R., additional, Hall, Matthew, additional, Liu, Lisa, additional, Hladunewich, Michelle A., additional, Lely, Titia, additional, and van Eerde, Albertien M., additional
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- 2024
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3. Correlación de la inactivación del cromosoma X con la presentación clínica de la enfermedad de Fabry a propósito de un caso
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Rodríguez Doyágüez, Pablo, primary, Furlano, Mónica, additional, Ars Criach, Elisabet, additional, Arce, Yolanda, additional, Guirado, Lluís, additional, and Torra Balcells, Roser, additional
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- 2023
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4. An Artificial Intelligence Generated Automated Algorithm to Measure Total Kidney Volume in ADPKD
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Taylor, Jonathan, primary, Thomas, Richard, additional, Metherall, Peter, additional, van Gastel, Marieke, additional, Cornec-Le Gall, Emilie, additional, Caroli, Anna, additional, Furlano, Monica, additional, Demoulin, Nathalie, additional, Devuyst, Olivier, additional, Winterbottom, Jean, additional, Torra, Roser, additional, Perico, Norberto, additional, Le Meur, Yannick, additional, Schoenherr, Sebastian, additional, Forer, Lukas, additional, Gansevoort, Ron T., additional, Simms, Roslyn J., additional, and Ong, Albert C.M., additional
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- 2023
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5. Corrigendum to “EASL clinical practice guidelines on the management of cystic liver diseases” [J Hepatol (77) 1083–1108]
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Drenth, Joost, primary, Barten, Thijs, additional, Böttler, Tobias, additional, Hartog, Hermien, additional, Nevens, Frederik, additional, Taubert, Richard, additional, Balcells, Roser Torra, additional, and Vilgrain, Valerie, additional
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- 2023
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6. Reply to Comments on the SENefro Consensus Document on Autosomal Dominant Polycystic Kidney Disease
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Ortiz, Alberto, primary, Ars, Elisabet, additional, Bernis, Carmen, additional, Fraga, Gloria, additional, Furlano, Mónica, additional, Martínez, Víctor, additional, Martins, Judith, additional, Pérez-Gómez, Maria Vanessa, additional, Rodríguez-Pérez, José Carlos, additional, Sans, Laia, additional, and Torra, Roser, additional
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- 2023
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7. Reply to Comments on the SENefro Consensus Document on Autosomal Dominant Polycystic Kidney Disease
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Alberto Ortiz, Elisabet Ars, Carmen Bernis, Gloria Fraga, Mónica Furlano, Víctor Martínez, Judith Martins, Maria Vanessa Pérez-Gómez, José Carlos Rodríguez-Pérez, Laia Sans, and Roser Torra
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Nephrology - Published
- 2023
8. Consensus document on autosomal dominant polycystic kindey disease from the Spanish Working Group on Inherited Kindey Diseases. Review 2020
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Carmen Bernis, Gloria Fraga, Maria Vanessa Perez-Gomez, Víctor Martínez, Alberto Ortiz, Elisabet Ars, Roser Torra, Laia Sans, Mónica Furlano, José Carlos Rodríguez-Pérez, and Judith Martins
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Enfermedades renales ,Nephrology ,business.industry ,Medicine ,business ,Ciencias médicas ,Enfermedad ,Nefrología - Abstract
La poliquistosis renal autosómica dominante (PQRAD) es la causa más frecuente de nefropatía genética y representa entre el 6 y el 10% de los pacientes en terapia de reemplazo renal (TRR). Muy pocos ensayos prospectivos, aleatorizados o estudios clínicos abordan el diagnóstico y el tratamiento de este trastorno relativamente frecuente. No hay guías clínicas disponibles hasta la fecha. Este es un documento de consenso revisada de la versión anterior del 2014, que presenta las recomendaciones del Grupo de Trabajo Español de Enfermedades Renales Hereditarias, acordadas tras la búsqueda bibliográfica y discusiones. Los niveles de evidencia en su mayoría son C y D según el Centro de Medicina Basada en Evidencia (Universidad de Oxford). Las recomendaciones se relacionan, entre otros temas, con el uso de diagnóstico por imágenes y genético, el manejo de la hipertensión, el dolor, las infecciones y el sangrado quístico, la afectación extrarrenal, incluida la enfermedad poliquística hepática y los aneurismas craneales, el manejo de la enfermedad renal crónica y el TRR, así como el seguimiento de niños con PQRAD. Se proporcionan recomendaciones sobre terapias específicas para la PQRAD, así como la recomendación para evaluar la rápida progresión. Autosomal dominant polycystic kidney disease (ADPKD) is the most frequent cause of genetic renal disease and accounts for 6–10% of patients on kidney replacement therapy (KRT). Very few prospective, randomized trials or clinical studies address the diagnosis and management of this relatively frequent disorder. No clinical guidelines are available to date. This is a revised consensus statement from the previous 2014 version, presenting the recommendations of the Spanish Working Group on Inherited Kidney Diseases, which were agreed to following a literature search and discussions. Levels of evidence mostly are C and D according to the Centre for Evidence-Based Medicine (University of Oxford). The recommendations relate to, among other topics, the use of imaging and genetic diagnosis, management of hypertension, pain, cyst infections and bleeding, extra-renal involvement including polycystic liver disease and cranial aneurysms, management of chronic kidney disease and KRT and management of children with ADPKD. Recommendations on specific ADPKD therapies are provided as well as the recommendation to assess rapid progression. Sin financiación 0.252 SJR (2021) Q3, 1824/2489 Medicine (Miscellaneous) No data IDR 2021 3.084 JCR (2021) Q2, 40/90 Urology & Nephrology 0.252 SJR (2021) Q3, 49/72 Nephrology No data IDR 2021 UEM
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- 2022
9. Consensus document on autosomal dominant polycystic kindey disease from the Spanish Working Group on Inherited Kindey Diseases. Review 2020
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Elisabet, Ars, Carmen, Bernis, Gloria, Fraga, Mónica, Furlano, Víctor, Martínez, Judith, Martins, Alberto, Ortiz, Maria Vanessa, Pérez-Gómez, José Carlos, Rodríguez-Pérez, Laia, Sans, and Roser, Torra
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Arthrogryposis ,Autosomal dominant polycystic kidney disease ,Consensus ,Progression ,Nephrology ,Humans ,Prospective Studies ,Recommendations ,Child ,Polycystic Kidney, Autosomal Dominant ,ADPKD ,Management - Abstract
Autosomal dominant polycystic kidney disease (ADPKD) is the most frequent cause of genetic renal disease and accounts for 6-10% of patients on kidney replacement therapy (KRT). Very few prospective, randomized trials or clinical studies address the diagnosis and management of this relatively frequent disorder. No clinical guidelines are available to date. This is a revised consensus statement from the previous 2014 version, presenting the recommendations of the Spanish Working Group on Inherited Kidney Diseases, which were agreed to following a literature search and discussions. Levels of evidence mostly are C and D according to the Centre for Evidence-Based Medicine (University of Oxford). The recommendations relate to, among other topics, the use of imaging and genetic diagnosis, management of hypertension, pain, cyst infections and bleeding, extra-renal involvement including polycystic liver disease and cranial aneurysms, management of chronic kidney disease (CKD) and KRT and management of children with ADPKD. Recommendations on specific ADPKD therapies are provided as well as the recommendation to assess rapid progression.
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- 2022
10. FollowME Fabry Pathfinders registry: Renal effectiveness in a multi-national, multi-center cohort of patients on migalastat treatment for at least three years
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Hughes, Derralynn, primary, Sunder-Plassmann, Gere, additional, Jovanovic, Ana, additional, Brand, Eva, additional, West, Michael L., additional, Bichet, Daniel G., additional, Pisani, Antonio, additional, Nowak, Albina, additional, Torra, Roser, additional, Khan, Aneal, additional, Azevedo, Olga, additional, Lehman, Anna, additional, Rutecki, Jasmine, additional, Giuliano, Joseph D., additional, Krusinska, Eva, additional, and Nordbeck, Peter, additional
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- 2023
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11. Respuesta a Comentarios sobre el Documento de Consenso de Poliquistosis Renal Autosómica Dominante de la SENefro
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Ortiz, Alberto, primary, Ars, Elisabet, additional, Bernis, Carmen, additional, Fraga, Gloria, additional, Furlano, Mónica, additional, Martínez, Víctor, additional, Martins, Judith, additional, Pérez-Gómez, Maria Vanessa, additional, Rodríguez-Pérez, José Carlos, additional, Sans, Laia, additional, and Torra, Roser, additional
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- 2023
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12. Correlación de la inactivación del cromosoma X con la presentación clínica de la enfermedad de Fabry a propósito de un caso
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Pablo Rodríguez Doyágüez, Mónica Furlano, Elisabet Ars Criach, Yolanda Arce, Lluís Guirado, and Roser Torra Balcells
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Nephrology - Published
- 2022
13. EASL Clinical Practice Guidelines on the management of cystic liver diseases
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Drenth, Joost, primary, Barten, Thijs, additional, Hartog, Hermien, additional, Nevens, Frederik, additional, Taubert, Richard, additional, Torra Balcells, Roser, additional, Vilgrain, Valerie, additional, and Böttler, Tobias, additional
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- 2022
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14. Respuesta a Comentarios sobre el Documento de Consenso de Poliquistosis Renal Autosómica Dominante de la SENefro
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Alberto Ortiz, Elisabet Ars, Carmen Bernis, Gloria Fraga, Mónica Furlano, Víctor Martínez, Judith Martins, Maria Vanessa Pérez-Gómez, José Carlos Rodríguez-Pérez, Laia Sans, and Roser Torra
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Nephrology - Published
- 2023
15. Documento de consenso de poliquistosis renal autosómica dominante del grupo de trabajo de enfermedades hereditarias de la Sociedad Española de Nefrología. Revisión 2020
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Ars, Elisabet, primary, Bernis, Carmen, additional, Fraga, Gloria, additional, Furlano, Mónica, additional, Martínez, Víctor, additional, Martins, Judith, additional, Ortiz, Alberto, additional, Pérez-Gómez, Maria Vanessa, additional, Rodríguez-Pérez, José Carlos, additional, Sans, Laia, additional, and Torra, Roser, additional
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- 2022
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16. Consensus document on autosomal dominant polycystic kindey disease from the Spanish Working Group on Inherited Kindey Diseases. Review 2020
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Ars, Elisabet, primary, Bernis, Carmen, additional, Fraga, Gloria, additional, Furlano, Mónica, additional, Martínez, Víctor, additional, Martins, Judith, additional, Ortiz, Alberto, additional, Pérez-Gómez, Maria Vanessa, additional, Rodríguez-Pérez, José Carlos, additional, Sans, Laia, additional, and Torra, Roser, additional
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- 2022
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17. Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference
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Köttgen, Anna, primary, Cornec-Le Gall, Emilie, additional, Halbritter, Jan, additional, Kiryluk, Krzysztof, additional, Mallett, Andrew J., additional, Parekh, Rulan S., additional, Rasouly, Hila Milo, additional, Sampson, Matthew G., additional, Tin, Adrienne, additional, Antignac, Corinne, additional, Ars, Elisabet, additional, Bergmann, Carsten, additional, Bleyer, Anthony J., additional, Bockenhauer, Detlef, additional, Devuyst, Olivier, additional, Florez, Jose C., additional, Fowler, Kevin J., additional, Franceschini, Nora, additional, Fukagawa, Masafumi, additional, Gale, Daniel P., additional, Gbadegesin, Rasheed A., additional, Goldstein, David B., additional, Grams, Morgan E., additional, Greka, Anna, additional, Gross, Oliver, additional, Guay-Woodford, Lisa M., additional, Harris, Peter C., additional, Hoefele, Julia, additional, Hung, Adriana M., additional, Knoers, Nine V.A.M., additional, Kopp, Jeffrey B., additional, Kretzler, Matthias, additional, Lanktree, Matthew B., additional, Lipska-Ziętkiewicz, Beata S., additional, Nicholls, Kathleen, additional, Nozu, Kandai, additional, Ojo, Akinlolu, additional, Parsa, Afshin, additional, Pattaro, Cristian, additional, Pei, York, additional, Pollak, Martin R., additional, Rhee, Eugene P., additional, Sanna-Cherchi, Simone, additional, Savige, Judy, additional, Sayer, John A., additional, Scolari, Francesco, additional, Sedor, John R., additional, Sim, Xueling, additional, Somlo, Stefan, additional, Susztak, Katalin, additional, Tayo, Bamidele O., additional, Torra, Roser, additional, van Eerde, Albertien M., additional, Weinstock, André, additional, Winkler, Cheryl A., additional, Wuttke, Matthias, additional, Zhang, Hong, additional, King, Jennifer M., additional, Cheung, Michael, additional, Jadoul, Michel, additional, Winkelmayer, Wolfgang C., additional, and Gharavi, Ali G., additional
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- 2022
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18. FollowME Fabry Pathfinders registry: Renal effectiveness in a multi-national, multi-center cohort of patients on migalastat treatment for at least three years
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Derralynn Hughes, Gere Sunder-Plassmann, Ana Jovanovic, Eva Brand, Michael L. West, Daniel G. Bichet, Antonio Pisani, Albina Nowak, Roser Torra, Aneal Khan, Olga Azevedo, Anna Lehman, Jasmine Rutecki, Joseph D. Giuliano, Eva Krusinska, and Peter Nordbeck
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Endocrinology ,Endocrinology, Diabetes and Metabolism ,Genetics ,Molecular Biology ,Biochemistry - Published
- 2023
19. Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference
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UCL - SSS/IREC/NEFR - Pôle de Néphrologie, UCL - (SLuc) Service de néphrologie, Köttgen, Anna, Cornec-Le Gall, Emilie, Halbritter, Jan, Kiryluk, Krzysztof, Mallett, Andrew J., Parekh, Rulan S., Rasouly, Hila Milo, Sampson, Matthew G., Tin, Adrienne, Antignac, Corinne, Ars, Elisabet, Bergmann, Carsten, Bleyer, Anthony J., Bockenhauer, Detlef, Devuyst, Olivier, Florez, Jose C., Fowler, Kevin J., Franceschini, Nora, Fukagawa, Masafumi, Gale, Daniel P., Gbadegesin, Rasheed A., Goldstein, David B., Grams, Morgan E., Greka, Anna, Gross, Oliver, Guay-Woodford, Lisa M., Harris, Peter C., Hoefele, Julia, Hung, Adriana M., Knoers, Nine V.A.M., Kopp, Jeffrey B., Kretzler, Matthias, Lanktree, Matthew B., Lipska-Ziętkiewicz, Beata S., Nicholls, Kathleen, Nozu, Kandai, Ojo, Akinlolu, Parsa, Afshin, Pattaro, Cristian, Pei, York, Pollak, Martin R., Rhee, Eugene P., Sanna-Cherchi, Simone, Savige, Judy, Sayer, John A., Scolari, Francesco, Sedor, John R., Sim, Xueling, Somlo, Stefan, Susztak, Katalin, Tayo, Bamidele O., Torra, Roser, van Eerde, Albertien M., Weinstock, André, Winkler, Cheryl A., Wuttke, Matthias, Zhang, Hong, King, Jennifer M., Cheung, Michael, Jadoul, Michel, Winkelmayer, Wolfgang C., Gharavi, Ali G., UCL - SSS/IREC/NEFR - Pôle de Néphrologie, UCL - (SLuc) Service de néphrologie, Köttgen, Anna, Cornec-Le Gall, Emilie, Halbritter, Jan, Kiryluk, Krzysztof, Mallett, Andrew J., Parekh, Rulan S., Rasouly, Hila Milo, Sampson, Matthew G., Tin, Adrienne, Antignac, Corinne, Ars, Elisabet, Bergmann, Carsten, Bleyer, Anthony J., Bockenhauer, Detlef, Devuyst, Olivier, Florez, Jose C., Fowler, Kevin J., Franceschini, Nora, Fukagawa, Masafumi, Gale, Daniel P., Gbadegesin, Rasheed A., Goldstein, David B., Grams, Morgan E., Greka, Anna, Gross, Oliver, Guay-Woodford, Lisa M., Harris, Peter C., Hoefele, Julia, Hung, Adriana M., Knoers, Nine V.A.M., Kopp, Jeffrey B., Kretzler, Matthias, Lanktree, Matthew B., Lipska-Ziętkiewicz, Beata S., Nicholls, Kathleen, Nozu, Kandai, Ojo, Akinlolu, Parsa, Afshin, Pattaro, Cristian, Pei, York, Pollak, Martin R., Rhee, Eugene P., Sanna-Cherchi, Simone, Savige, Judy, Sayer, John A., Scolari, Francesco, Sedor, John R., Sim, Xueling, Somlo, Stefan, Susztak, Katalin, Tayo, Bamidele O., Torra, Roser, van Eerde, Albertien M., Weinstock, André, Winkler, Cheryl A., Wuttke, Matthias, Zhang, Hong, King, Jennifer M., Cheung, Michael, Jadoul, Michel, Winkelmayer, Wolfgang C., and Gharavi, Ali G.
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- 2022
20. First results from The Spanish Fabry Women Study: A retrospective observational study describing the phenotype of female carrying genetic variants associated to Fabry disease
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Sánchez, Rosario, primary, de Juan-Ribera, Joaquín, additional, Gimeno, Juan Ramón, additional, Ripoll-Vera, Tomás, additional, López-Mendoza, Manuel, additional, Hermida, Álvaro, additional, Torra, Roser, additional, Ruz-Zafra, Maria Aurora, additional, Torregrosa, Vicent, additional, Mora, Antonia, additional, Fortuny, Elena, additional, and García-Pinilla, José Manuel, additional
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- 2022
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21. Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference
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Anna Köttgen, Emilie Cornec-Le Gall, Jan Halbritter, Krzysztof Kiryluk, Andrew J. Mallett, Rulan S. Parekh, Hila Milo Rasouly, Matthew G. Sampson, Adrienne Tin, Corinne Antignac, Elisabet Ars, Carsten Bergmann, Anthony J. Bleyer, Detlef Bockenhauer, Olivier Devuyst, Jose C. Florez, Kevin J. Fowler, Nora Franceschini, Masafumi Fukagawa, Daniel P. Gale, Rasheed A. Gbadegesin, David B. Goldstein, Morgan E. Grams, Anna Greka, Oliver Gross, Lisa M. Guay-Woodford, Peter C. Harris, Julia Hoefele, Adriana M. Hung, Nine V.A.M. Knoers, Jeffrey B. Kopp, Matthias Kretzler, Matthew B. Lanktree, Beata S. Lipska-Ziętkiewicz, Kathleen Nicholls, Kandai Nozu, Akinlolu Ojo, Afshin Parsa, Cristian Pattaro, York Pei, Martin R. Pollak, Eugene P. Rhee, Simone Sanna-Cherchi, Judy Savige, John A. Sayer, Francesco Scolari, John R. Sedor, Xueling Sim, Stefan Somlo, Katalin Susztak, Bamidele O. Tayo, Roser Torra, Albertien M. van Eerde, André Weinstock, Cheryl A. Winkler, Matthias Wuttke, Hong Zhang, Jennifer M. King, Michael Cheung, Michel Jadoul, Wolfgang C. Winkelmayer, Ali G. Gharavi, UCL - SSS/IREC/NEFR - Pôle de Néphrologie, and UCL - (SLuc) Service de néphrologie
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Nephrology ,monogenic ,genetic kidney disease ,genome-wide association studies ,Humans ,polygenic ,Congresses as Topic ,Renal Insufficiency, Chronic ,single-nucleotide polymorphism ,Article ,genetic testing - Abstract
Numerous genes for monogenic kidney diseases with classical patterns of inheritance, as well as genes for complex kidney diseases that manifest in combination with environmental factors, have been discovered. Genetic findings are increasingly used to inform clinical management of nephropathies, and have led to improved diagnostics, disease surveillance, choice of therapy, and family counseling. All of these steps rely on accurate interpretation of genetic data, which can be outpaced by current rates of data collection. In March of 2021, Kidney Diseases: Improving Global Outcomes (KDIGO) held a Controversies Conference on “Genetics in Chronic Kidney Disease (CKD)” to review the current state of understanding of monogenic and complex (polygenic) kidney diseases, processes for applying genetic findings in clinical medicine, and use of genomics for defining and stratifying CKD. Given the important contribution of genetic variants to CKD, practitioners with CKD patients are advised to “think genetic,” which specifically involves obtaining a family history, collecting detailed information on age of CKD onset, performing clinical examination for extrarenal symptoms, and considering genetic testing. To improve the use of genetics in nephrology, meeting participants advised developing an advanced training or subspecialty track for nephrologists, crafting guidelines for testing and treatment, and educating patients, students, and practitioners. Key areas of future research, including clinical interpretation of genome variation, electronic phenotyping, global representation, kidney-specific molecular data, polygenic scores, translational epidemiology, and open data resources, were also identified.
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- 2022
22. Predictors of outcome in a Spanish cohort of patients with Fabry disease on enzyme replacement therapy
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Goicoechea, Marian, primary, Gomez-Preciado, Francisco, additional, Benito, Silvia, additional, Torras, Joan, additional, Torra, Roser, additional, Huerta, Ana, additional, Restrepo, Alejandra, additional, Ugalde, Jessica, additional, Astudillo, Daniela Estefania, additional, Agraz, Irene, additional, Lopez-Mendoza, Manuel, additional, de Arriba, Gabriel, additional, Corchete, Elena, additional, Quiroga, Borja, additional, Gutierrez, Maria Jose, additional, Martin-Conde, Maria Luisa, additional, Lopes, Vanessa, additional, Ramos, Carmela, additional, Mendez, Irene, additional, Cao, Mercedes, additional, Dominguez, Fernando, additional, and Ortiz, Alberto, additional
- Published
- 2021
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23. Corrigendum to “Long-term follow-up of renal function in patients treated with migalastat for Fabry disease” [Bichet et al., MGM Reports; 28 (2021) 100786]
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Bichet, Daniel G., primary, Torra, Roser, additional, Wallace, Eric, additional, Hughes, Derralynn, additional, Giugliani, Roberto, additional, Skuban, Nina, additional, Krusinska, Eva, additional, Feldt-Rasmussen, Ulla, additional, Schiffmann, Raphael, additional, and Nicholls, Kathy, additional
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- 2021
- Full Text
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24. Clinical and Genetic Features of Autosomal Dominant Alport Syndrome: A Cohort Study
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Furlano, Mónica, primary, Martínez, Victor, additional, Pybus, Marc, additional, Arce, Yolanda, additional, Crespí, Jaume, additional, Venegas, María del Prado, additional, Bullich, Gemma, additional, Domingo, Andrea, additional, Ayasreh, Nadia, additional, Benito, Silvia, additional, Lorente, Laura, additional, Ruíz, Patricia, additional, Gonzalez, Vanesa López, additional, Arlandis, Rosa, additional, Cabello, Elisa, additional, Torres, Ferran, additional, Guirado, Lluis, additional, Ars, Elisabet, additional, and Torra, Roser, additional
- Published
- 2021
- Full Text
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25. Long-term follow-up of renal function in patients treated with migalastat for Fabry disease
- Author
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Bichet, Daniel G., primary, Torra, Roser, additional, Wallace, Eric, additional, Hughes, Derralynn, additional, Giugliani, Roberto, additional, Skuban, Nina, additional, Krusinska, Eva, additional, Feldt-Rasmussen, Ulla, additional, Schiffmann, Raphael, additional, and Nicholls, Kathy, additional
- Published
- 2021
- Full Text
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26. Clinical profile of women diagnosed with Fabry disease non receiving enzyme replacement therapy
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Roser Torra, Joaquín Serena, Miguel Ángel Barba-Romero, Vicente Climent, Josep Puig, Victor Valverde C, Rafael Huertas, and José Antonio Herrero
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Adult ,medicine.medical_specialty ,Pediatrics ,Adolescent ,Disease ,Sintomatología neurológica ,Asymptomatic ,Young Adult ,Enfermedad de Anderson-Fabry ,03 medical and health sciences ,0302 clinical medicine ,Quality of life ,Epidemiology ,medicine ,Humans ,Enzyme Replacement Therapy ,030212 general & internal medicine ,Anderson-Fabry disease ,Depression (differential diagnoses) ,Aged ,business.industry ,Enzyme replacement therapy ,Neurological symptomatology ,General Medicine ,Middle Aged ,medicine.disease ,Fabry disease ,Cross-Sectional Studies ,Fabry Disease ,Anxiety ,Female ,Anderson-Fabry disease, Enfermedad de Anderson-Fabry, Enzyme replacement therapy, Neurological symptomatology, Sintomatología neurológica, Terapia de sustitución enzimática ,medicine.symptom ,business ,Terapia de sustitución enzimática - Abstract
Introduction and objective Fabry disease (FD) is an X-linked lysosomal storage disorder due to a deficiency of the α-galactosidase A enzyme. Although women were historically considered only carriers, many studies have contradicted this fact. The main aim of this work was to set the first Spanish study out of the on-going registries on health status and management of women diagnosed with FD who were not receiving enzyme replacement therapy (ERT). Material and methods An epidemiological, cross-sectional, descriptive and multicentre study was assessed in women diagnosed for FD who were not receiving ERT. Assessments on symptomatology and severity were collected using several clinical questionnaires. Additionally, clinical information and lab tests were obtained from clinical records. Results Thirty-three women with a mean age of 45.6 ± 16.2 years were studied. Symptom onset was at a median age of 35.5 years old (range: 30.0–51.5), being diagnosed a median of 2 years later (range: 1.0–1.5). Missense mutations were the most prevalent mutation (n = 22, 68.8%). Although 69% considered themselves as asymptomatic, 22 (66.7%) showed at least one FD-related clinical symptom. Using Mainz Severity Score index and Fabry International Prognosis Index neurological symptomatology obtained higher scores both for severity and prognostic. The EQ-5D questionnaire showed 42.2% patients referring to some anxiety or depression, and 30.3% thought that their life was somehow altered by the pain. 62.5% were not receiving any treatment and ERT was offered only to one patient (3.6%) who refused it. Conclusions Although most of the heterozygous women for FD had not received ERT or either symptomatic treatment, they present symptoms of disease. Careful follow-up of female patients or some adjuvant treatment may be considered to delay progressive organ damage and improve patient quality of life.
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- 2019
27. MYH9 Associated nephropathy
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Nadia Ayasreh, Mónica Furlano, María del Prado Venegas, Rosa Arlandis, Patricia Ruiz, Anna Matamala, Jaume Crespí, José Ballarín, Silvana Novelli, Elisabet Ars, Gemma Bullich, Roser Torra, Laura Lorente, and Angel F. Remacha
- Subjects
Adult ,Pathology ,medicine.medical_specialty ,Delayed Diagnosis ,Genotype ,Hearing loss ,Hearing Loss, Sensorineural ,030232 urology & nephrology ,Disease ,030204 cardiovascular system & hematology ,lcsh:RC870-923 ,Nephropathy ,Diagnosis, Differential ,03 medical and health sciences ,0302 clinical medicine ,medicine ,Humans ,Alport syndrome ,Genetic testing ,Purpura, Thrombocytopenic, Idiopathic ,Myosin Heavy Chains ,medicine.diagnostic_test ,business.industry ,lcsh:Diseases of the genitourinary system. Urology ,medicine.disease ,Thrombocytopenia ,Thrombocytopenic purpura ,Phenotype ,Epstein Syndrome ,Nephrology ,Mutation ,May–Hegglin anomaly ,Female ,Kidney Diseases ,medicine.symptom ,business - Abstract
MYH9 related diseases are caused by mutations in the MYH9 gene and constitute a rare group of genetic entities. Its inheritance follows an autosomal dominant pattern. The MYH9 gene, encodes the nonmuscle myosin heavy chain IIA, expressed in different tissues and especially in podocytes and mesangial cells. The disorder is characterized by the presence of macrothrombocytopenia, leukocyte inclusions and a variable risk of developing renal failure, hearing loss and early-onset cataracts. We describe the case of a 27-year-old Caucasian woman, diagnosed initially with idiopathic thrombocytopenic purpura. After a detailed family history and the appearance of renal involvement and hearing loss, genetic testing allowed to make the diagnosis of nephropathy associated with MYH9 mutation. This case is an example of the delayed diagnosis of uncommon diseases and highlights the usefulness genetic testing. A review of the disease is provided. Resumen: Las enfermedades relacionadas con mutaciones del gen MYH9 son un grupo de patologías genéticas raras. Su herencia sigue un patrón autosómico dominante en donde el gen MYH9, codifica la cadena pesada de la miosina IIA no muscular que se expresa en diferentes tejidos pero especialmente en los podocitos y en las células mesangiales. Este trastorno se caracteriza por la presencia de macrotrombocitopenia, inclusiones leucocitarias y un riesgo variable de desarrollar insuficiencia renal, hipoacusia y cataratas en edad juvenil o adulta. Describimos el caso de una mujer de 27 años, de raza caucásica, diagnosticada inicialmente de púrpura trombocitopénica idiopática. Tras una detallada historia familiar y el desarrollo de síntomas clínicos posteriores con afectación renal e hipoacusia, se le realizó un estudio genético que nos permitió el diagnóstico de nefropatía asociada a la mutación en el gen MYH9. Este caso destaca el retraso del diagnóstico y la utilidad del estudio genético en pacientes con enfermedades muy poco frecuentes. Se procede a la revisión de la enfermedad en este artículo. Keywords: MYH9 nephropathy, Hearing loss, Thrombocytopenia, Alport syndrome, Epstein syndrome, May-Hegglin anomaly, Palabras clave: Nefropatía MYH9, Hipoacusia, Trombocitopenia, Síndrome de Alport, Síndrome de Epstein, Anomalía de May-Hegglin, Sindrome de Sebastián
- Published
- 2019
28. First results from The Spanish Fabry Women Study: A retrospective observational study describing the phenotype of female carrying genetic variants associated to Fabry disease
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Rosario Sánchez, Joaquín de Juan-Ribera, Juan Ramón Gimeno, Tomás Ripoll-Vera, Manuel López-Mendoza, Álvaro Hermida, Roser Torra, Maria Aurora Ruz-Zafra, Vicent Torregrosa, Antonia Mora, Elena Fortuny, and José Manuel García-Pinilla
- Subjects
Endocrinology ,Endocrinology, Diabetes and Metabolism ,Genetics ,Molecular Biology ,Biochemistry - Published
- 2022
29. Establishing a Core Outcome Set for Autosomal Dominant Polycystic Kidney Disease: Report of the Standardized Outcomes in Nephrology–Polycystic Kidney Disease (SONG-PKD) Consensus Workshop
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Cho, Yeoungjee, primary, Tong, Allison, additional, Craig, Jonathan C., additional, Mustafa, Reem A., additional, Chapman, Arlene, additional, Perrone, Ronald D., additional, Ahn, Curie, additional, Fowler, Kevin, additional, Torres, Vicente, additional, Gansevoort, Ron T., additional, Ong, Albert C.M., additional, Coolican, Helen, additional, Tze-Wah Kao, Juliana, additional, Harris, Tess, additional, Gutman, Talia, additional, Shen, Jenny I., additional, Viecelli, Andrea K., additional, Johnson, David W., additional, Au, Eric, additional, El-Damanawi, Ragada, additional, Logeman, Charlotte, additional, Ju, Angela, additional, Manera, Karine E., additional, Chonchol, Michel, additional, Odland, Dwight, additional, Baron, David, additional, Pei, York, additional, Sautenet, Benedicte, additional, Rastogi, Anjay, additional, Sharma, Ankit, additional, Rangan, Gopala, additional, Levin, Adeera, additional, Yu, Alan, additional, Ong, Albert, additional, Thompson, Aliza, additional, Baumgart, Amanda, additional, Bernier-Jean, Amelie, additional, Kelly, Amy, additional, Viecelli, Andrea, additional, Mallett, Andrew, additional, Wang, Angela, additional, Rastog, Anjay, additional, Nadeau-Fredette, Annie-Claire, additional, Teixeira-Pinto, Armando, additional, Kelly, Ayano, additional, Gillespie, Barbara, additional, Canaud, Bernard, additional, Manns, Braden, additional, Hemmelgarn, Brenda, additional, Hanson, Camilla, additional, Hawley, Carmel, additional, Pollock, Carol, additional, Chao, Chia-Ter, additional, Rutherford, Claudia, additional, Sumpton, Daniel, additional, Harris, David, additional, Johnson, David, additional, Wheeler, David, additional, Mekahli, Djalila, additional, O’Donoghue, Donal, additional, Peters, Dorien, additional, Oberdhan, Dorothee, additional, Balovlenkov, Elena, additional, O'Lone, Emma, additional, Tentori, Francesca, additional, Czerwiec, Frank, additional, Oskoui, Frederic Rahbari, additional, Rangan, Gopi, additional, Germino, Gregory, additional, Park, Hayne, additional, Htay, Htay, additional, Ryu, Hyunjin, additional, Norton, Jenna, additional, Shen, Jenny, additional, Gill, John, additional, Kao, Juliana, additional, Eckardt, Kai-Uwe, additional, Manera, Karine, additional, Van, Kim Linh, additional, Guay-Woodford, Lisa, additional, Krishnan, Mahesh, additional, Hogan, Marie, additional, Howell, Martin, additional, Park, Meyeon, additional, Mrug, Michal, additional, Ta, Michelle, additional, Evangelidis, Nicole, additional, Harris, Peter, additional, Tugwell, Peter, additional, Garimella, Pranav, additional, Krishnasamy, Rathika, additional, Mustafa, Reem, additional, McGee, Richard, additional, Pecoits-Filho, Roberto, additional, Gansevoort, Ron, additional, Perrone, Ronald, additional, Torra, Roser, additional, Crowe, Sally, additional, Anumudu, Samaya, additional, Chan, Samuel, additional, Bernays, Sarah, additional, Horie, Shigeo, additional, Carter, Simon, additional, Palmer, Suetonia, additional, Mendley, Susan, additional, Watnick, Terry, additional, Hiemstra, Thomas, additional, Weimbs, Thomas, additional, Jha, Vivek, additional, van Biesen, Wim, additional, Winkelmayer, Wolfgang, additional, Cho, Yeoungjee, additional, Oh, Yun Kyu, additional, Clark, David, additional, McGinty-Poteet, Debra, additional, King, Elizabeth, additional, Vickers, Frances, additional, Odland, Jean, additional, Lee, Lynore, additional, Vickers, Marvin, additional, Johnston-Clark, Mary, additional, Dorsey, Robin, additional, and Baron, Zachary, additional
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- 2021
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30. Autosomal Dominant Tubulointerstitial Kidney Disease: Clinical Presentation of Patients With ADTKD-UMOD and ADTKD-MUC1
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Intza Garin, Víctor Martínez, Alberto Martinez-Vea, Mario Espinosa, Oliver Valero, José Ballarín, Miguel A. Garcia-Gonzalez, Elisabet Ars, David Arroyo, Gemma Bullich, Patricia Ruiz, Nadia Ayasreh, Xavier Fulladosa, Roser Torra, Laura Lorente, Mónica Furlano, Rosa Miquel, Vanessa Pérez-Gómez, and Nisrine Arhda
- Subjects
Adult ,Male ,0301 basic medicine ,medicine.medical_specialty ,030232 urology & nephrology ,Renal function ,Disease ,03 medical and health sciences ,0302 clinical medicine ,Internal medicine ,Uromodulin ,Humans ,Medicine ,Hyperuricemia ,Genetic testing ,medicine.diagnostic_test ,business.industry ,Mucin-1 ,Retrospective cohort study ,Middle Aged ,Polycystic Kidney, Autosomal Dominant ,medicine.disease ,Gout ,030104 developmental biology ,Spain ,Nephrology ,Mutation ,Cohort ,Kidney Failure, Chronic ,Nephritis, Interstitial ,Female ,business ,Kidney disease - Abstract
Rationale & Objective Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a rare underdiagnosed cause of end-stage renal disease (ESRD). ADTKD is caused by mutations in at least 4 different genes: MUC1, UMOD, HNF1B, and REN. Study Design Retrospective cohort study. Setting & Participants 56 families (131 affected individuals) with ADTKD referred from different Spanish hospitals. Clinical, laboratory, radiologic, and pathologic data were collected, and genetic testing for UMOD, MUC1, REN, and HNF1B was performed. Predictors Hyperuricemia, ultrasound findings, renal histology, genetic mutations. Outcomes Age at ESRD, rate of decline in estimated glomerular filtration rate. Results ADTKD was diagnosed in 25 families (45%), 9 carried UMOD pathogenic variants (41 affected members), and 16 carried the MUC1 pathogenic mutation c.(428)dupC (90 affected members). No pathogenic variants were identified in REN or HNF1B. Among the 77 individuals who developed ESRD, median age at onset of ESRD was 51 years for those with ADTKD-MUC1 versus 56 years (P=0.1) for those with ADTKD-UMOD. Individuals with the MUC1 duplication presented higher risk for developing ESRD (HR, 2.24; P=0.03). The slope of decline in estimated glomerular filtration rate showed no significant difference between groups (−3.0mL/min/1.73m2 per year in the ADTKD-UMOD group versus −3.9mL/min/1.73m2 per year in the ADTKD-MUC1 group; P=0.2). The prevalence of hyperuricemia was significantly higher in individuals with ADTKD-UMOD (87% vs 54%; P=0.006). Although gout occurred more frequently in this group, the difference was not statistically significant (24% vs 7%; P=0.07). Limitations Relatively small Spanish cohort. MUC1 analysis limited to cytosine duplication. Conclusions The main genetic cause of ADTKD in our Spanish cohort is the MUC1 pathogenic mutation c.(428)dupC. Renal survival may be worse in individuals with the MUC1 mutation than in those with UMOD mutations. Clinical presentation does not permit distinguishing between these variants. However, hyperuricemia and gout are more frequent in individuals with ADTKD-UMOD.
- Published
- 2018
31. A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases
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Laura Lorente-Grandoso, Elisabet Ars, Andrea Domingo-Gallego, Gemma Bullich, Gloria Fraga, Juan Alberto Piñero-Fernández, A. Madrid, Mar Borregan, José Ballarín, Mireia Aguirre Meñica, Lidia Rodríguez-Peña, Roser Torra, Mónica Furlano, David Torrents, Isabel Llano-Rivas, Patricia Ruiz, Ivan Vargas, Gema Ariceta, and María Juliana Ballesta-Martínez
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0301 basic medicine ,Kidney ,medicine.medical_specialty ,medicine.diagnostic_test ,business.industry ,030232 urology & nephrology ,Autosomal dominant polycystic kidney disease ,medicine.disease ,Genetic analysis ,03 medical and health sciences ,030104 developmental biology ,0302 clinical medicine ,medicine.anatomical_structure ,Nephrology ,Internal medicine ,Cohort ,medicine ,Copy-number variation ,Alport syndrome ,business ,Kidney disease ,Genetic testing - Abstract
Molecular diagnosis of inherited kidney diseases remains a challenge due to their expanding phenotypic spectra as well as the constantly growing list of disease-causing genes. Here we develop a comprehensive approach for genetic diagnosis of inherited cystic and glomerular nephropathies. Targeted next generation sequencing of 140 genes causative of or associated with cystic or glomerular nephropathies was performed in 421 patients, a validation cohort of 116 patients with previously known mutations, and a diagnostic cohort of 207 patients with suspected inherited cystic disease and 98 patients with glomerular disease. In the validation cohort, a sensitivity of 99% was achieved. In the diagnostic cohort, causative mutations were found in 78% of patients with cystic disease and 62% of patients with glomerular disease, mostly familial cases, including copy number variants. Results depict the distribution of different cystic and glomerular inherited diseases showing the most likely diagnosis according to perinatal, pediatric and adult disease onset. Of all the genetically diagnosed patients, 15% were referred with an unspecified clinical diagnosis and in 2% genetic testing changed the clinical diagnosis. Therefore, in 17% of cases our genetic analysis was crucial to establish the correct diagnosis. Complex inheritance patterns in autosomal dominant polycystic kidney disease and Alport syndrome were suspected in seven and six patients, respectively. Thus, our kidney-disease gene panel is a comprehensive, noninvasive, and cost-effective tool for genetic diagnosis of cystic and glomerular inherited kidney diseases. This allows etiologic diagnosis in three-quarters of patients and is especially valuable in patients with unspecific or atypical phenotypes.
- Published
- 2018
32. Effects of Bardoxolone Methyl in Alport Syndrome
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Warady, Bradley, primary, Pergola, Pablo E., additional, Agarwal, Rajiv, additional, Andreoli, Sharon, additional, Appel, Gerald B., additional, Bangalore, Sripal, additional, Block, Geoffrey A., additional, Chapman, Arlene B., additional, Chin, Melanie P., additional, Gibson, Keisha L., additional, Goldsberry, Angie, additional, Iijima, Kazumoto, additional, Inker, Lesley A., additional, Kashtan, Clifford E., additional, Knebelmann, Bertrand, additional, Mariani, Laura H., additional, Meyer, Colin J., additional, Nozu, Kandai, additional, O’Grady, Megan, additional, Rheault, Michelle N., additional, Silva, Arnold L., additional, Stenvinkel, Peter, additional, Torra, Roser, additional, and Chertow, Glenn M., additional
- Published
- 2021
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33. Clinical and Genetic Features of Autosomal Dominant Alport Syndrome: A Cohort Study
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Rosa Arlandis, Patricia Ruiz, Victor D. Martinez, Lluis Guirado, Roser Torra, Laura Lorente, Mónica Furlano, Yolanda Arce, Vanesa López Gonzalez, María del Prado Venegas, Elisa Cabello, S. Benito, Jaume Crespí, Ferran Torres, Elisabet Ars, Marc Pybus, Gemma Bullich, Andrea Domingo, and Nadia Ayasreh
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Adult ,Collagen Type IV ,Male ,Thin basement membrane disease ,Genotype-phenotype correlation ,medicine.medical_specialty ,Adolescent ,COL4A3 ,030232 urology & nephrology ,Renal function ,Nephritis, Hereditary ,Autoantigens ,Cohort Studies ,Young Adult ,03 medical and health sciences ,Autosomal-dominant Alport syndrome ,0302 clinical medicine ,Focal segmental glomerulosclerosis ,Genetic ,Internal medicine ,medicine ,COL4A4 ,Humans ,Hereditary kidney disease ,Genetic Testing ,Renal Insufficiency ,030212 general & internal medicine ,Familial benign hematuria ,Microhematuria ,Alport syndrome ,Aged ,Retrospective Studies ,Aged, 80 and over ,business.industry ,Familial hematuria ,Genetic Variation ,Retrospective cohort study ,Hearing loss ,Middle Aged ,medicine.disease ,medicine.icd_9_cm_classification ,Nephrology ,Inherited kidney disease ,Female ,business ,Kidney disease ,Cohort study - Abstract
Rationale & Objective: Alport syndrome is a common genetic kidney disease accounting for approximately 2% of patients receiving kidney replacement therapy (KRT). It is caused by pathogenic variants in the gene COL4A3, COL4A4, or COL4A5. The aim of this study was to evaluate the clinical and genetic spectrum of patients with autosomal dominant Alport syndrome (ADAS). Study Design: Retrospective cohort study. Setting & Participants: 82 families (252 patients) with ADAS were studied. Clinical, genetic, laboratory, and pathology data were collected. Observations: A pathogenic DNA variant in COL4A3 was identified in 107 patients (35 families), whereas 133 harbored a pathogenic variant in COL4A4 (43 families). Digenic/complex inheritance was observed in 12 patients. Overall, the median kidney survival was 67 (95% CI, 58-73) years, without significant differences across sex (P = 0.8), causative genes (P = 0.6), or type of variant (P = 0.9). Microhematuria was the most common kidney manifestation (92.1%), and extrarenal features were rare. Findings on kidney biopsies ranged from normal to focal segmental glomerulosclerosis. The slope of estimated glomerular filtration rate change was -1.46 (-1.66 to -1.26) mL/min/1.73 m(2) per year for the overall group, with no significant differences between ADAS genes (P = 0.2). Limitations: The relatively small size of this series from a single country, potentially limiting generalizability. Conclusions: Patients with ADAS have a wide spectrum of clinical presentations, ranging from asymptomatic to kidney failure, a pattern not clearly related to the causative gene or type of variant. The diversity of ADAS phenotypes contributes to its underdiagnosis in clinical practice.
- Published
- 2021
34. Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1
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Olinger, Eric, primary, Hofmann, Patrick, additional, Kidd, Kendrah, additional, Dufour, Inès, additional, Belge, Hendrica, additional, Schaeffer, Céline, additional, Kipp, Anne, additional, Bonny, Olivier, additional, Deltas, Constantinos, additional, Demoulin, Nathalie, additional, Fehr, Thomas, additional, Fuster, Daniel G., additional, Gale, Daniel P., additional, Goffin, Eric, additional, Hodaňová, Kateřina, additional, Huynh-Do, Uyen, additional, Kistler, Andreas, additional, Morelle, Johann, additional, Papagregoriou, Gregory, additional, Pirson, Yves, additional, Sandford, Richard, additional, Sayer, John A., additional, Torra, Roser, additional, Venzin, Christina, additional, Venzin, Reto, additional, Vogt, Bruno, additional, Živná, Martina, additional, Greka, Anna, additional, Dahan, Karin, additional, Rampoldi, Luca, additional, Kmoch, Stanislav, additional, Bleyer, Anthony J., additional, and Devuyst, Olivier, additional
- Published
- 2020
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35. Clinical trial recommendations for potential Alport syndrome therapies
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Weinstock, B. André, primary, Feldman, David L., additional, Fornoni, Alessia, additional, Gross, Oliver, additional, Kashtan, Clifford E., additional, Lagas, Sharon, additional, Lennon, Rachel, additional, Miner, Jeffrey H., additional, Rheault, Michelle N., additional, Simon, James F., additional, Bonebrake, Lisa, additional, Dunleavy, Marty, additional, Kumnick, Phil, additional, Parziale, Gina, additional, Reed, Janine, additional, Weinstock, André, additional, Gear, Susie, additional, Binaso, Kristen, additional, Manuel, Raymond, additional, Simon, James, additional, Appel, Gerald, additional, Blank, Melanie, additional, Tang, Winson, additional, Thompson, Aliza, additional, Torra, Roser, additional, Lieberman, Kenneth, additional, Licht, Christoph, additional, Dahan, Karin, additional, Nozu, Kandai, additional, Kai, Hirofumi, additional, Ricardo, Sharon, additional, Pariser, Anne, additional, Feldman, David, additional, Cook, Heather, additional, Chin, Melanie, additional, Goldsberry, Angela, additional, Meyer, Colin, additional, Melia, Lisa Anne, additional, Komers, Radko, additional, Markels, Michael, additional, Mercer, Alex, additional, Prunotto, Marco, additional, Morgenstern, Bruce, additional, Hariri, Ali, additional, Modur, Vijay, additional, Turner, Neil, additional, Kashtan, Clifford, additional, Rheault, Michelle, additional, Baigent, Colin, additional, DeSacco, Stephano, additional, Perin, Laura, additional, Barua, Moumita, additional, Nakanishi, Koichi, additional, Jarad, George, additional, and Miner, Jeffrey, additional
- Published
- 2020
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36. Recomendaciones de manejo de la afectación renal en el complejo esclerosis tuberosa
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Ariceta, Gema, primary, Buj, María José, additional, Furlano, Mónica, additional, Martínez, Víctor, additional, Matamala, Anna, additional, Morales, Montserrat, additional, Robles, Nicolás Roberto, additional, Sans, Laia, additional, Villacampa, Felipe, additional, and Torra, Roser, additional
- Published
- 2020
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37. Recommendations for the management of renal involvement in tuberous sclerosis complex
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Ariceta, Gema, primary, Buj, María José, additional, Furlano, Mónica, additional, Martínez, Víctor, additional, Matamala, Anna, additional, Morales, Montserrat, additional, Robles, Nicolás Roberto, additional, Sans, Laia, additional, Villacampa, Felipe, additional, and Torra, Roser, additional
- Published
- 2020
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38. Revisión de la nefropatía tubulointersticial autosómica dominante
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Nadia Ayasreh Fierro, Elisabet Ars Criach, Roser Torra Balcells, Ana Matamala Gastón, and Rosa María Miquel Rodríguez
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Mucina-1 ,Pathology ,medicine.medical_specialty ,030232 urology & nephrology ,Disease ,030204 cardiovascular system & hematology ,lcsh:RC870-923 ,Uromodulina ,Renina ,03 medical and health sciences ,0302 clinical medicine ,Renal fibrosis ,medicine ,Nefropatía tubulointersticial autosómica dominante ,Cystic disease ,business.industry ,lcsh:Diseases of the genitourinary system. Urology ,medicine.disease ,HNF1B ,Factor nuclear hepático 1 beta ,Dermatology ,Enfermedad renal hereditaria ,Nephrology ,business ,Kidney disease - Abstract
Resumen En los últimos años ha habido una reclasificación de las nefropatías tubulointersticiales de base genética. Los antiguos conceptos de nefronoptisis o enfermedad quística medular han sido reordenados con base en el hallazgo de nuevos genes. Las guías KDIGO del 2015 proponen una unificación de terminología, unos criterios diagnósticos y de seguimiento. Hasta el momento se han descrito 4 genes causantes de la nefropatía tubulointersticial autosómica dominante: MUC1, UMOD, HNF1B y REN. Aunque la mutación en cada uno de los genes produce unos rasgos diferenciales en la forma de presentación, todas las formas tienen en común el progresivo daño túbulo-intersticial y la fibrosis renal. En este artículo, se pretende una revisión de las guías, de la literatura y ofrecer unas recomendaciones prácticas para el manejo de esta enfermedad.
- Published
- 2017
39. A review on autosomal dominant tubulointerstitial kidney disease
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Nadia Ayasreh, Rosa Miquel, Ana Matamala, Elisabet Ars, and Roser Torra
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03 medical and health sciences ,0302 clinical medicine ,Nephrology ,Uromodulin ,Mucin-1 ,Renin ,030232 urology & nephrology ,Autosomal dominant tubulointerstitial kidney disease ,Hepatocyte nuclear factor beta ,Hereditary kidney disease ,030204 cardiovascular system & hematology ,lcsh:Diseases of the genitourinary system. Urology ,lcsh:RC870-923 - Abstract
In recent years there has been a reclassification of hereditary tubulointerstitial renal diseases. The old concepts of nephronoptisis or medullary cystic disease have been reordered based on the discovery of new genes. The 2015 KDIGO guidelines proposed a unification of terminology, diagnostic criteria and monitoring. So far 4 genes causing autosomal dominant tubulointerstitial kidney disease have been described: MUC1, UMOD, HNF1B and REN. Although the mutation in each of them causes distinctive features in how they present, all have in common the progressive tubulointerstitial damage and renal fibrosis. In this article, we present a review of the guidelines and the literature, and some practical recommendations for dealing with this disease.
- Published
- 2017
40. Screening, diagnosis, and management of patients with Fabry disease: conclusions from a 'Kidney Disease: Improving Global Outcomes' (KDIGO) Controversies Conference
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Dominique P. Germain, Aleš Linhart, Behzad Najafian, Kathy Nicholls, Michael West, Robert J. Hopkin, Renzo Mignani, Antonio Pisani, Stephen Waldek, Camilla Tøndel, Jeffrey B. Kopp, Wim Terryn, Uma Ramaswami, Greg T. Obrador, Gabor E. Linthorst, Atul Mehta, Sandro Feriozzi, Carla E. M. Hollak, Jerry Walter, Christoph Wanner, João Paulo Oliveira, Derralynn Hughes, Juan Politei, Agnes B. Fogo, Daniel G. Bichet, Ana Maria Martins, Roser Torra, Bojan Vujkovac, Ricardo Correa-Rotter, Alberto Ortiz, Ilkka Kantola, Raphael Schiffmann, John Asher Johnson, Einar Svarstad, David G. Warnock, Dietrich Matern, Markus Ries, Perry M. Elliott, Ichiei Narita, Erik Ilsø Christensen, and Jürgen Kröner
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Nephrology ,medicine.medical_specialty ,medicine.diagnostic_test ,business.industry ,Disease ,Enzyme replacement therapy ,030204 cardiovascular system & hematology ,medicine.disease ,Fabry disease ,law.invention ,03 medical and health sciences ,0302 clinical medicine ,Randomized controlled trial ,law ,Internal medicine ,medicine ,Physical therapy ,Intensive care medicine ,Risk assessment ,business ,030217 neurology & neurosurgery ,Genetic testing ,Kidney disease - Abstract
Patients with Fabry disease (FD) are at a high risk for developing chronic kidney disease and cardiovascular disease. The availability of specific but costly therapy has elevated the profile of this rare condition. This KDIGO conference addressed controversial areas in the diagnosis, screening, and management of FD, and included enzyme replacement therapy and nonspecific standard-of-care therapy for the various manifestations of FD. Despite marked advances in patient care and improved overall outlook, there is a need to better understand the pathogenesis of this glycosphingolipidosis and to determine the appropriate age to initiate therapy in all types of patients. The need to develop more effective specific therapies was also emphasized.
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- 2017
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41. A coordinated transition model for patients with cystinosis: from pediatric to adult care
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Gema Ariceta, Juan Antonio Camacho, Matilde Fernández-Obispo, Anna Vila-Santandreu, Manel Perelló, Judit García-Villoria, Grupo T-CiS.bcn, Josep Gamez, Pere Leyes, J. Vicenç Torregrosa, Enrique Lara, Nieves Martín-Begué, Aurora Fernández-Polo, Guillem Pintos-Morell, Ana Güell, Roser Torra, and Sandra Torres-Sierra
- Subjects
Pediatrics ,medicine.medical_specialty ,Adolescent ,media_common.quotation_subject ,Cystinosis ,030232 urology & nephrology ,Disease ,lcsh:RC870-923 ,Patient advocacy ,03 medical and health sciences ,0302 clinical medicine ,030225 pediatrics ,medicine ,Young adult ,Empowerment ,Intensive care medicine ,Kidney transplant ,Kidney transplantation ,media_common ,business.industry ,medicine.disease ,lcsh:Diseases of the genitourinary system. Urology ,Nephrology ,Adherence ,Transition ,Life expectancy ,business ,Kidney disease - Abstract
Introduction Improved outcome and longer life expectancy in patients with cystinosis and the intrinsic complexity of the disease, underline the need for a guided transition of patients from pediatric to adult care. The process aims to guarantee the continuum of care and enable the empowerment of patients from guardian to self-care. Methods Bibliography review, expert opinion and anonymous surveys of patients, relatives and patient advocacy groups. Results A new plan to support and coordinate the transition of cystinotic patients providing specific proposals for a variety of medical fields and improved treatment adherence. Nephrologists play a key role in the transition since most cystinotic patients have severe chronic kidney disease and require kidney transplantation before adulthood. Conclusion We present a proposal providing recommendations and a chronogram to aid the transition of adolescents and young adults with cystinosis in our area.
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- 2016
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42. Recommendations for the multidisciplinary management of tuberous sclerosis complex
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Alfons Macaya and Roser Torra
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03 medical and health sciences ,Tuberous sclerosis ,medicine.medical_specialty ,0302 clinical medicine ,business.industry ,Multidisciplinary approach ,Medicine ,030212 general & internal medicine ,business ,medicine.disease ,Intensive care medicine ,030217 neurology & neurosurgery - Published
- 2016
43. Recomendaciones para el abordaje multidisciplinar del complejo esclerosis tuberosa
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Alfons Macaya, Roser Torra, Gema Ariceta, Susana Boronat, Jaume Campistol Plana, Álvaro Casanova Espinosa, Sixto García-Miñaúr, Ángela Hernández-Martín, Darcy A. Krueger, Javier López-Pisón, Yolanda Angélica Palomo Castaño, Fredy Hermogenes, Esther Roé Crespo, María Luz Ruiz-Falcó Rojas, Pedro J. Serrano-Castro, and Felipe Villacampa Auba
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Gynecology ,03 medical and health sciences ,medicine.medical_specialty ,0302 clinical medicine ,business.industry ,medicine ,030212 general & internal medicine ,General Medicine ,business ,030217 neurology & neurosurgery - Published
- 2016
44. PrEFiNe Plan: Strategic plan for Fabry's diseases in Nephrology
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Domingo Hernández, Alberto Ortiz, Roser Torra, and M.D. del Pino
- Subjects
0301 basic medicine ,Pediatrics ,medicine.medical_specialty ,medicine.medical_treatment ,Proyecto PrEFiNE ,Disease ,lcsh:RC870-923 ,Delayed diagnosis ,Kidney transplant ,03 medical and health sciences ,0302 clinical medicine ,Chronic kidney disease ,medicine ,In patient ,PrEFiNE Project ,030212 general & internal medicine ,Enfermedad renal crónica ,Dialysis ,Fabry disease ,business.industry ,Enfermedad de Fabry ,Diálisis ,lcsh:Diseases of the genitourinary system. Urology ,medicine.disease ,Organ damage ,Premature death ,Trasplante renal ,030104 developmental biology ,Nephrology ,business - Abstract
Background: Renal failure is one of the main causes of death in patients with Fabry disease (FD). Due to the low prevalence of FD, delayed diagnosis and misdiagnosis, often the correct diagnosis is made when organ damage is already present. Early recognition of the disease would allow the prevention of severe complications and the premature death of patients with FD. Objective: We present here the PrEFiNE project, which includes a wide spectrum of activities with the aim of improve knowledge and diagnosis of FD. The project is sponsored by Shire Iberia (http://shireiberica.com/). Methods: From January 2016 to the end of 2017 several activities will be carried out, starting with a survey to evaluate current FD knowledge among nephrologists; in addition some studies to assess prevalence of this disease will be performed. One study will include patients receiving dialysis, another study will cover kidney transplant patients, and a pilot study in chronic kidney disease in stage 3–5 predialysis. Also planned is a pharmacoeconomic study to focus on burden of FD. At the same time medical education activities will be conducted both on line and on site. Plan for dissemination will include medical publications and diffusion to media. PrEFiNE Project will finish with the publication of a compilation book on FD in Nephrology including all planned activities and proposing recommendations based on results and detected unmet needs. PrEfiNE Plan will be coordinated by severa scientific committees, one at national level and 10 other regionals committees, that will be responsible to ensure the maximum scientific quality of proposed activities. An advisory board will supervise the project. Discussion: PrEfiNE project will evaluate an action plan focused on improving FD knowledge to make necessary recommendations for an early recognition of the disease. In addition will generate a plan to improve previously undetected needs.
- Published
- 2016
45. Clinical profile of women diagnosed with Fabry disease non receiving enzyme replacement therapy
- Author
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Barba-Romero, Miguel Ángel, primary, Serena, Joaquin, additional, Puig, Josep Maria, additional, Valverde C., Victor, additional, Climent, Vicente, additional, Herrero, Jose Antonio, additional, Huertas, Rafael, additional, and Torra, Roser, additional
- Published
- 2019
- Full Text
- View/download PDF
46. Nefropatía asociada a mutación del gen MYH9
- Author
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Furlano, Mónica, primary, Arlandis, Rosa, additional, Venegas, María del Prado, additional, Novelli, Silvana, additional, Crespi, Jaume, additional, Bullich, Gemma, additional, Ayasreh, Nadia, additional, Remacha, Ángel, additional, Ruiz, Patricia, additional, Lorente, Laura, additional, Ballarín, José, additional, Matamala, Anna, additional, Ars, Elisabet, additional, and Torra, Roser, additional
- Published
- 2019
- Full Text
- View/download PDF
47. MYH9 Associated nephropathy
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Furlano, Mónica, primary, Arlandis, Rosa, additional, del Prado Venegas, María, additional, Novelli, Silvana, additional, Crespi, Jaume, additional, Bullich, Gemma, additional, Ayasreh, Nadia, additional, Remacha, Ángel, additional, Ruiz, Patricia, additional, Lorente, Laura, additional, Ballarín, José, additional, Matamala, Anna, additional, Ars, Elisabet, additional, and Torra, Roser, additional
- Published
- 2019
- Full Text
- View/download PDF
48. Cystinosis in adult and adolescent patients: Recommendations for the comprehensive care of cystinosis
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Anna Vila Santandreu, Federico Oppenheimer, Juan Antonio Camacho, Guillem Pintos Morell, Manel Perelló, Josep Gamez, Roser Torra, Matilde Fernández-Obispo, Aurora Fernández-Polo, Judit García-Villoria, Gema Ariceta, Ana Güell, Nieves Martín-Begué, Enrique Lara Monteczuma, Pere Leyes, and Grupo T-CiS.bcn
- Subjects
Nephrology ,medicine.medical_treatment ,Cystinosis ,Síndrome de Fanconi ,lcsh:RC870-923 ,Corneal Diseases ,Disease management (health) ,Kidney transplantation ,Disease Management ,White blood cell (WBC) cystine levels ,Transition ,Comprehensive Health Care ,Adult ,Transition to Adult Care ,medicine.medical_specialty ,Adolescent ,Cysteamine ,Genetic Counseling ,Pharmacy ,Endocrine System Diseases ,Cistinosis ,Quality of life (healthcare) ,Patient Education as Topic ,Internal medicine ,medicine ,Humans ,Renal replacement therapy ,Intensive care medicine ,business.industry ,Transición ,lcsh:Diseases of the genitourinary system. Urology ,medicine.disease ,Kidney Transplantation ,Surgery ,Self Care ,Fanconi syndrome ,Amino Acid Transport Systems, Neutral ,Early Diagnosis ,Adherence ,Quality of Life ,Cisteamina ,Kidney Failure, Chronic ,Interdisciplinary Communication ,Nervous System Diseases ,business ,Cistina intraleucocitaria ,Adherencia ,Kidney disease - Abstract
Introduction Cystinosis is a rare systemic lysosomal storage disease that mainly affects the kidney and the eye. Renal replacement therapy is started in patients with cystinosis during the first decade of life in the absence of treatment. The prognosis of cystinosis depends on early diagnosis and the prompt start of and good compliance with cysteamine treatment. Kidney disease progression, extra-renal complications and shorter life expectancy are more pronounced in patients who do not adhere to treatment. Objective The aim of this work was to establish recommendations for the comprehensive care of cystinosis and facilitate patient transition from paediatric to adult medicine, based on clinical experience. The goal is to reduce the impact of the disease and improve prognosis and patient quality of life. Methods Bibliographic research and consensus meetings with a multidisciplinary professional team of clinical experts in cystinosis (T-CiS.bcn group) from 5 hospitals in Barcelona. Results This consensus document gathers specific recommendations for the diagnosis, treatment and multidisciplinary care of cystinotic patients in the following areas: nephrology, dialysis, kidney transplantation, ophthalmology, endocrinology, neurology, laboratory, genetic counselling, nursing and pharmacy. Conclusions Guidelines for the comprehensive care of cystinosis provide a support tool for health professionals who look after these patients. They are based on the following main pillars: (a) a multidisciplinary approach; (b) appropriate disease monitoring and control of white blood cell (WBC) cystine levels; (c) the importance of adherence to cysteamine treatment; and (d) the promotion of patient self-care by means of disease education programmes. All these recommendations will lead us, in a second phase, to create a coordinated model of transition from paediatric to adult care services which will cover the specific needs of cystinosis.
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- 2015
49. Cistinosis en pacientes adolescentes y adultos: Recomendaciones para la atención integral de la cistinosis
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Guillem Pintos Morell, Ana Güell, Matilde Fernández-Obispo, Enrique Lara Monteczuma, Federico Oppenheimer, Manel Perelló, Aurora Fernández-Polo, Juan Antonio Camacho, Josep Gamez, Nieves Martín-Begué, Roser Torra, Anna Vila Santandreu, Gema Ariceta, Pere Leyes, Grupo T-CiS.bcn, and Judit García-Villoria
- Subjects
Cysteamine ,Cystinosis ,Transición ,lcsh:Diseases of the genitourinary system. Urology ,lcsh:RC870-923 ,Cistinosis ,Fanconi syndrome ,Adherence ,Nephrology ,Transition ,Cisteamina ,Síndrome de Fanconi, Cistina intraleucocitaria ,Adherencia ,Intracellular cystine in leukocytes - Abstract
ResumenIntroducciónLa cistinosis es una enfermedad lisosomal minoritaria de expresión sistémica con especial afectación renal y oftalmológica, en la que los pacientes inician terapia renal sustitutiva en la primera década de la vida en ausencia de tratamiento. El pronóstico de la cistinosis depende del diagnóstico precoz, la pronta instauración del tratamiento con cisteamina y el buen cumplimiento terapéutico. La progresión de la enfermedad renal y de las complicaciones extrarrenales y una menor supervivencia, son más acentuadas en pacientes no adherentes.ObjetivoEl objetivo de este trabajo fue la elaboración de unas recomendaciones para la atención integral de la cistinosis y la transición del adolescente a la medicina del adulto, basadas en la experiencia clínica, con el fin de reducir el impacto de la enfermedad y mejorar la calidad de vida y el pronóstico del paciente.MétodoBúsqueda bibliográfica y reuniones de consenso de un equipo multidisciplinar de expertos en la práctica clínica con pacientes afectos de cistinosis (Grupo T-CiS.bcn), procedentes de 5 hospitales localizados en Barcelona.ResultadosEl documento recoge recomendaciones específicas y necesarias para el diagnóstico, tratamiento y seguimiento multidisciplinar de la cistinosis en las siguientes áreas: nefrología, diálisis, trasplante renal, oftalmología, endocrinología, neurología, laboratorio, consejo genético, enfermería y farmacia.ConclusionesDisponer de un documento de referencia para la atención integral de la cistinosis constituye una herramienta de soporte para los profesionales de la salud que asisten a estos pacientes. Los principales pilares en los que se sustenta son: a) el enfoque multidisciplinar, b) la adecuada monitorización de la enfermedad y control de los niveles de cistina intraleucocitarios, c) la importancia de la adherencia al tratamiento con cisteamina y d) la promoción del autocuidado del paciente mediante programas de educación en la enfermedad. Todo ello conducirá, en una segunda fase, a la elaboración de un modelo de transición coordinado entre los servicios de pediatría y de adultos que contemple las necesidades específicas de la cistinosis.AbstractIntroductionCystinosis is a rare lysosomal systemic disease that mainly affects the kidney and the eye. Patients with cystinosis begin renal replacement therapy during the first decade of life in absence of treatment. Prognosis of cystinosis depends on early diagnosis, and prompt starting and good compliance with cysteamine treatment. Kidney disease progression, extra-renal complications and shorter life expectancy are more pronounced in those patients that do not follow treatment.The objective of this work was to elaborate recommendations for the comprehensive care of cystinosis and the facilitation of patient transition from paediatric to adult treatment, based on clinical experience. The goal is to reduce the impact of the disease, and to improve patient quality of life and prognosis.MethodsBibliographic research and consensus meetings among a multidisciplinary professional team of experts in the clinical practice, with cystinotic patients (T-CiS.bcn group) from 5 hospitals located in Barcelona.ResultsThis document gathers specific recommendations for diagnosis, treatment and multidisciplinary follow-up of cystinotic patients in the following areas: nephrology, dialysis, renal transplant, ophthalmology, endocrinology, neurology, laboratory, genetic counselling, nursing and pharmacy.ConclusionsA reference document for the comprehensive care of cystinosis represents a support tool for health professionals who take care of these patients. It is based on the following main pillars: a) a multi-disciplinary approach, b) appropriate disease monitoring and control of intracellular cystine levels in leukocytes, c) the importance of adherence to treatment with cysteamine, and d) the promotion of patient self-care by means of disease education programmes. All these recommendations will lead us, in a second phase, to create a coordinated transition model between paediatric and adult care services which will cover the specific needs of cystinosis.
- Published
- 2015
50. Tratamiento de la poliquistosis renal autosómica dominante
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Roser Torra
- Subjects
business.industry ,Medicine ,General Medicine ,business ,Humanities - Abstract
Resumen La poliquistosis renal autosomica dominante es la enfermedad renal hereditaria mas frecuente. Carece de un tratamiento especifico. Su prevalencia es de 1/800 y provoca la necesidad de tratamiento renal sustitutivo en un 8-10% de los pacientes en dialisis o trasplante renal. Esta causada por mutaciones en los genes PKD1 y PKD2 , que condicionan una serie de alteraciones en la celula poliquistica, las cuales se han convertido en dianas terapeuticas. Existen muchas moleculas que estan siendo testadas para contrarrestar las alteraciones de estas dianas. Hay estudios en todas las fases de investigacion, desde la fase i a la iv . Algunas de las moleculas objeto de estudio son el tolvaptan, los inhibidores de mTOR y los analogos de la somatostatina, entre muchos otros. De acuerdo con la experiencia acumulada, el objetivo primario de los ensayos es el enlentecimiento del aumento del volumen renal. Pero se hacen necesarios otros objetivos tales como funcion renal, hipertension, etc. Es de prever que en los proximos anos podamos disponer de farmacos especificos, bien tolerados, eficaces y de un coste asumible para el tratamiento de esta enfermedad.
- Published
- 2014
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