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1. Advancing Genetic Testing in Kidney Diseases: Report From a National Kidney Foundation Working Group

Author

Ars, Elisabet, Reza Bekheirnia, Mir, Bier, Louise, Bleyer, Anthony J., Sr., Fuller, Lindsey J., Halbritter, Jan, Harris, Peter C., Kiryluk, Krzysztof, Knoers, Nine V.A.M., Kopp, Jeffrey B., Kramer, Holly, Lagas, Sharon S., Lieske, John C., Lu, Weining, Mannon, Roslyn B., Markowitz, Glen, Moe, Orson W., Nadkarni, Girish N., Nast, Cynthia C., Parekh, Rulan S., Pei, York, Reed, Katie, Rehm, Heidi L., Richards, Denay J., Roberts, Mary-Beth, Sabatello, Maya, Salant, David J., Sampson, Matthew G., Sanna-Cherchi, Simone, Santoriello, Dominick, Sedor, John R., Sneddon, Tam P., Watnick, Terry, Wilfond, Benjamin S., Williams, Winfred W., Wong, Craig S., Franceschini, Nora, Feldman, David L., Berg, Jonathan S., Besse, Whitney, Chang, Alexander R., Dahl, Neera K., Gbadegesin, Rasheed, Pollak, Martin R., Rasouly, Hila Milo, Smith, Richard J.H., Winkler, Cheryl A., and Gharavi, Ali G.

Published
2024
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2. Genome-wide association analyses define pathogenic signaling pathways and prioritize drug targets for IgA nephropathy

Author

Kiryluk, Krzysztof, Sanchez-Rodriguez, Elena, Zhou, Xu-Jie, Zanoni, Francesca, Liu, Lili, Mladkova, Nikol, Khan, Atlas, Marasa, Maddalena, Zhang, Jun Y., Balderes, Olivia, Sanna-Cherchi, Simone, Bomback, Andrew S., Canetta, Pietro A., Appel, Gerald B., Radhakrishnan, Jai, Trimarchi, Hernan, Sprangers, Ben, Cattran, Daniel C., Reich, Heather, Pei, York, Ravani, Pietro, Galesic, Kresimir, Maixnerova, Dita, Tesar, Vladimir, Stengel, Benedicte, Metzger, Marie, Canaud, Guillaume, Maillard, Nicolas, Berthoux, Francois, Berthelot, Laureline, Pillebout, Evangeline, Monteiro, Renato, Nelson, Raoul, Wyatt, Robert J., Smoyer, William, Mahan, John, Samhar, Al-Akash, Hidalgo, Guillermo, Quiroga, Alejandro, Weng, Patricia, Sreedharan, Raji, Selewski, David, Davis, Keefe, Kallash, Mahmoud, Vasylyeva, Tetyana L., Rheault, Michelle, Chishti, Aftab, Ranch, Daniel, Wenderfer, Scott E., Samsonov, Dmitry, Claes, Donna J., Akchurin, Oleh, Goumenos, Dimitrios, Stangou, Maria, Nagy, Judit, Kovacs, Tibor, Fiaccadori, Enrico, Amoroso, Antonio, Barlassina, Cristina, Cusi, Daniele, Del Vecchio, Lucia, Battaglia, Giovanni Giorgio, Bodria, Monica, Boer, Emanuela, Bono, Luisa, Boscutti, Giuliano, Caridi, Gianluca, Lugani, Francesca, Ghiggeri, GianMarco, Coppo, Rosanna, Peruzzi, Licia, Esposito, Vittoria, Esposito, Ciro, Feriozzi, Sandro, Polci, Rosaria, Frasca, Giovanni, Galliani, Marco, Garozzo, Maurizio, Mitrotti, Adele, Gesualdo, Loreto, Granata, Simona, Zaza, Gianluigi, Londrino, Francesco, Magistroni, Riccardo, Pisani, Isabella, Magnano, Andrea, Marcantoni, Carmelita, Messa, Piergiorgio, Mignani, Renzo, Pani, Antonello, Ponticelli, Claudio, Roccatello, Dario, Salvadori, Maurizio, Salvi, Erica, Santoro, Domenico, Gembillo, Guido, Savoldi, Silvana, Spotti, Donatella, Zamboli, Pasquale, Izzi, Claudia, Alberici, Federico, Delbarba, Elisa, Florczak, Michał, Krata, Natalia, Mucha, Krzysztof, Pączek, Leszek, Niemczyk, Stanisław, Moszczuk, Barbara, Pańczyk-Tomaszewska, Malgorzata, Mizerska-Wasiak, Malgorzata, Perkowska-Ptasińska, Agnieszka, Bączkowska, Teresa, Durlik, Magdalena, Pawlaczyk, Krzysztof, Sikora, Przemyslaw, Zaniew, Marcin, Kaminska, Dorota, Krajewska, Magdalena, Kuzmiuk-Glembin, Izabella, Heleniak, Zbigniew, Bullo-Piontecka, Barbara, Liberek, Tomasz, Dębska-Slizien, Alicja, Hryszko, Tomasz, Materna-Kiryluk, Anna, Miklaszewska, Monika, Szczepańska, Maria, Dyga, Katarzyna, Machura, Edyta, Siniewicz-Luzeńczyk, Katarzyna, Pawlak-Bratkowska, Monika, Tkaczyk, Marcin, Runowski, Dariusz, Kwella, Norbert, Drożdż, Dorota, Habura, Ireneusz, Kronenberg, Florian, Prikhodina, Larisa, van Heel, David, Fontaine, Bertrand, Cotsapas, Chris, Wijmenga, Cisca, Franke, Andre, Annese, Vito, Gregersen, Peter K., Parameswaran, Sreeja, Weirauch, Matthew, Kottyan, Leah, Harley, John B., Suzuki, Hitoshi, Narita, Ichiei, Goto, Shin, Lee, Hajeong, Kim, Dong Ki, Kim, Yon Su, Park, Jin-Ho, Cho, BeLong, Choi, Murim, Van Wijk, Ans, Huerta, Ana, Ars, Elisabet, Ballarin, Jose, Lundberg, Sigrid, Vogt, Bruno, Mani, Laila-Yasmin, Caliskan, Yasar, Barratt, Jonathan, Abeygunaratne, Thilini, Kalra, Philip A., Gale, Daniel P., Panzer, Ulf, Rauen, Thomas, Floege, Jürgen, Schlosser, Pascal, Ekici, Arif B., Eckardt, Kai-Uwe, Chen, Nan, Xie, Jingyuan, Lifton, Richard P., Loos, Ruth J. F., Kenny, Eimear E., Ionita-Laza, Iuliana, Köttgen, Anna, Julian, Bruce A., Novak, Jan, Scolari, Francesco, Zhang, Hong, and Gharavi, Ali G.

Published
2023
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3. Large-scale analyses of the X chromosome in 2,354 infertile men discover recurrently affected genes associated with spermatogenic failure

Author

Riera-Escamilla, Antoni, Vockel, Matthias, Nagirnaja, Liina, Xavier, Miguel J., Carbonell, Albert, Moreno-Mendoza, Daniel, Pybus, Marc, Farnetani, Ginevra, Rosta, Viktoria, Cioppi, Francesca, Friedrich, Corinna, Oud, Manon S., van der Heijden, Godfried W., Soave, Armin, Diemer, Thorsten, Ars, Elisabet, Sánchez-Curbelo, Josvany, Kliesch, Sabine, O’Bryan, Moira K., Ruiz-Castañe, Eduard, Azorín, Fernando, Veltman, Joris A., Aston, Kenneth I., Conrad, Donald F., Tüttelmann, Frank, and Krausz, Csilla

Published
2022
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6. Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference

Author

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.

Published
2022
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7. Increased prevalence of kidney cysts in individuals carrying heterozygous COL4A3 or COL4A4 pathogenic variants.

Author

Furlano, Mónica, Pilco-Teran, Melissa, Pybus, Marc, Martínez, Víctor, Aza-Carmona, Miriam, Peris, Asunción Rius, Pérez-Gomez, Vanessa, Berná, Gerson, Mazon, Jaime, Hernández, Jonathan, Arizón, Leonor Fayos de, Viera, Elizabet, Gich, Ignasi, Pérez, Hugo Vergara, Gomá-Garcés, Elena, Dolon, José Luis Albero, Ars, Elisabet, and Torra, Roser

Subjects
CYSTIC kidney disease, RENAL replacement therapy, GLOMERULAR filtration rate, CHRONIC kidney failure, PROTEINURIA
Abstract

Background Clinical variability among individuals with heterozygous pathogenic/likely pathogenic (P/LP) variants in the COL4A3 / COL4A4 genes (also called autosomal dominant Alport syndrome or COL4A3/COL4A4 -related disorder) is huge; many individuals are asymptomatic or show microhematuria, while others may develop proteinuria and chronic kidney disease (CKD). The prevalence of simple kidney cysts (KC) in the general population varies according to age, and patients with advanced CKD are prone to have them. A possible association between heterozygous COL4A3, COL4A4 and COL4A5 P/LP variants and KC has been described in small cohorts. The presence of KC in a multicenter cohort of individuals with heterozygous P/LP variants in the COL4A3 / COL4A4 genes is assessed in this study. Methods We evaluated the presence of KC by ultrasound in 157 individuals with P/LP variants in COL4A3 (40.7%) or COL4A4 (53.5%) without kidney replacement therapy. The association between presence of KC and age, proteinuria, estimated glomerular filtration rate (eGFR) and causative gene was analyzed. Prevalence of KC was compared with historical case series in the general population. Results Half of the individuals with P/LP variants in COL4A3 / COL4A4 showed KC, which is a significantly higher percentage than in the general population. Only 3.8% (6/157) had cystic nephromegaly. Age and eGFR showed an association with the presence of KC (P  < .001). No association was found between KC and proteinuria, sex or causative gene. Conclusions Individuals with COL4A3 / COL4A4 P/LP variants are prone to develop KC more frequently than the general population, and their presence is related to age and to eGFR. Neither proteinuria, sex nor the causative gene influences the presence of KC in these individuals. [ABSTRACT FROM AUTHOR]

Published
2024
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9. #2068 Factors affecting disease progression in individuals with heterozygous COL4A3/COL4A4 pathogenic variants

Author

Teran, Melissa Pilco, primary, Furlano, Monica, additional, Pybus, Marc, additional, Jiménez, Víctor Martínez, additional, Gomá-Garcés, Elena, additional, Carrillo, Isabel Galan, additional, Leon, Rafael, additional, Romeo, Maria Jose Soler, additional, de Arizón, Leonor Fayos, additional, Perera, Alexandre, additional, Ars, Elisabet, additional, and Torra, Roser, additional

Published
2024
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10. #2259 Preimplantation genetic testing in inherited kidney diseases

Author

Furlano, Monica, primary, Tinoco, Adria, additional, Sampani, Erasmia, additional, Almeida, Catarina, additional, Gonçalves, Pedro Lisboa, additional, Polo, Ana, additional, Martínez, Olga, additional, Teran, Melissa Pilco, additional, Ramírez, Elizabeth Romelia Viera, additional, Ars, Elisabet, additional, and Torra, Roser, additional

Published
2024
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11. #2327 Extent of proteinuria in autosomal dominant Alport syndrome compared to X linked Alport syndrome

Author

Gonçalves, Pedro Lisboa, primary, de Faria, Vitoria Paes, additional, Furlano, Monica, additional, Almeida, Catarina, additional, Sampani, Erasmia, additional, Teran, Melissa Pilco, additional, Viera, Elisabet, additional, Fayos, Leonor, additional, Pybus, Marc, additional, Aza, Miriam, additional, Ars, Elisabet, additional, and Torra, Roser, additional

Published
2024
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12. #2613 Clinical spectrum and prognosis of the atypical polycystic kidney disease caused by monoallelic loss-of-function IFT140 variants

Author

Zagorec, Nikola, primary, Calamel, Alizée, additional, Ars, Elisabet, additional, Ong, Albert, additional, Halbritter, Jan, additional, Audrezet, Marie-Pierre, additional, Pillay, Vignesh-Guru, additional, Meur, Yannick Le, additional, Sayer, John, additional, Group, Genkyst Study, additional, and Gall, Emilie Cornec-Le, additional

Published
2024
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15. Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men

Author

Krausz, Csilla, Riera-Escamilla, Antoni, Moreno-Mendoza, Daniel, Holleman, Kaylee, Cioppi, Francesca, Algaba, Ferran, Pybus, Marc, Friedrich, Corinna, Wyrwoll, Margot J., Casamonti, Elena, Pietroforte, Sara, Nagirnaja, Liina, Lopes, Alexandra M., Kliesch, Sabine, Pilatz, Adrian, Carrell, Douglas T., Conrad, Donald F., Ars, Elisabet, Ruiz-Castañé, Eduard, Aston, Kenneth I., Baarends, Willy M., and Tüttelmann, Frank

Published
2020
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16. Advancing Genetic Testing in Kidney Diseases: Report From a National Kidney Foundation Working Group

Author

Franceschini, Nora, Feldman, David L., Berg, Jonathan S., Besse, Whitney, Chang, Alexander R., Dahl, Neera K., Gbadegesin, Rasheed, Pollak, Martin R., Rasouly, Hila Milo, Smith, Richard J.H., Winkler, Cheryl A., Gharavi, Ali G., Ars, Elisabet, Reza Bekheirnia, Mir, Bier, Louise, Bleyer, Anthony J., Fuller, Lindsey J., Halbritter, Jan, Harris, Peter C., Kiryluk, Krzysztof, Knoers, Nine V.A.M., Kopp, Jeffrey B., Kramer, Holly, Lagas, Sharon S., Lieske, John C., Lu, Weining, Mannon, Roslyn B., Markowitz, Glen, Moe, Orson W., Nadkarni, Girish N., Nast, Cynthia C., Parekh, Rulan S., Pei, York, Reed, Katie, Rehm, Heidi L., Richards, Denay J., Roberts, Mary-Beth, Sabatello, Maya, Salant, David J., Sampson, Matthew G., Sanna-Cherchi, Simone, Santoriello, Dominick, Sedor, John R., Sneddon, Tam P., Watnick, Terry, Wilfond, Benjamin S., Williams, Winfred W., and Wong, Craig S.

Abstract

About 37 million people in the United States have chronic kidney disease, a disease that encompasses multiple causes. About 10% or more of kidney diseases in adults and as many as 70% of selected chronic kidney diseases in children are expected to be explained by genetic causes. Despite the advances in genetic testing and an increasing understanding of the genetic bases of certain kidney diseases, genetic testing in nephrology lags behind other medical fields. More understanding of the benefits and logistics of genetic testing is needed to advance the implementation of genetic testing in chronic kidney diseases. Accordingly, the National Kidney Foundation convened a Working Group of experts with diverse expertise in genetics, nephrology, and allied fields to develop recommendations for genetic testing for monogenic disorders and to identify genetic risk factors for oligogenic and polygenic causes of kidney diseases. Algorithms for clinical decision making on genetic testing and a road map for advancing genetic testing in kidney diseases were generated. An important aspect of this initiative was the use of a modified Delphi process to reach group consensus on the recommendations. The recommendations and resources described herein provide support to nephrologists and allied health professionals to advance the use of genetic testing for diagnosis and screening of kidney diseases.

Published
2024
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18. MYH9 Associated nephropathy

Author

Furlano, Mónica, Arlandis, Rosa, del Prado Venegas, María, Novelli, Silvana, Crespi, Jaume, Bullich, Gemma, Ayasreh, Nadia, Remacha, Ángel, Ruiz, Patricia, Lorente, Laura, Ballarín, José, Matamala, Anna, Ars, Elisabet, and Torra, Roser

Published
2019
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19. Nefropatía asociada a mutación del gen MYH9

Author

Furlano, Mónica, Arlandis, Rosa, Venegas, María del Prado, Novelli, Silvana, Crespi, Jaume, Bullich, Gemma, Ayasreh, Nadia, Remacha, Ángel, Ruiz, Patricia, Lorente, Laura, Ballarín, José, Matamala, Anna, Ars, Elisabet, and Torra, Roser

Published
2019
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20. gr/gr deletion predisposes to testicular germ cell tumour independently from altered spermatogenesis: results from the largest European study

Author

Moreno-Mendoza, Daniel, Casamonti, Elena, Paoli, Donatella, Chianese, Chiara, Riera-Escamilla, Antoni, Giachini, Claudia, Fino, Maria Grazia, Cioppi, Francesca, Lotti, Francesco, Vinci, Serena, Magini, Angela, Ars, Elisabet, Sanchez-Curbelo, Josvany, Ruiz-Castane, Eduard, Lenzi, Andrea, Lombardo, Francesco, and Krausz, Csilla

Published
2019
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24. The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis

Author

Xie, Jingyuan, Liu, Lili, Mladkova, Nikol, Li, Yifu, Ren, Hong, Wang, Weiming, Cui, Zhao, Lin, Li, Hu, Xiaofan, Yu, Xialian, Xu, Jing, Liu, Gang, Caliskan, Yasar, Sidore, Carlo, Balderes, Olivia, Rosen, Raphael J., Bodria, Monica, Zanoni, Francesca, Zhang, Jun Y., Krithivasan, Priya, Mehl, Karla, Marasa, Maddalena, Khan, Atlas, Ozay, Fatih, Canetta, Pietro A., Bomback, Andrew S., Appel, Gerald B., Sanna-Cherchi, Simone, Sampson, Matthew G., Mariani, Laura H., Perkowska-Ptasinska, Agnieszka, Durlik, Magdalena, Mucha, Krzysztof, Moszczuk, Barbara, Foroncewicz, Bartosz, Pączek, Leszek, Habura, Ireneusz, Ars, Elisabet, Ballarin, Jose, Mani, Laila-Yasmin, Vogt, Bruno, Ozturk, Savas, Yildiz, Abdülmecit, Seyahi, Nurhan, Arikan, Hakki, Koc, Mehmet, Basturk, Taner, Karahan, Gonca, Akgul, Sebahat Usta, Sever, Mehmet Sukru, Zhang, Dan, Santoro, Domenico, Bonomini, Mario, Londrino, Francesco, Gesualdo, Loreto, Reiterova, Jana, Tesar, Vladimir, Izzi, Claudia, Savoldi, Silvana, Spotti, Donatella, Marcantoni, Carmelita, Messa, Piergiorgio, Galliani, Marco, Roccatello, Dario, Granata, Simona, Zaza, Gianluigi, Lugani, Francesca, Ghiggeri, GianMarco, Pisani, Isabella, Allegri, Landino, Sprangers, Ben, Park, Jin-Ho, Cho, BeLong, Kim, Yon Su, Kim, Dong Ki, Suzuki, Hitoshi, Amoroso, Antonio, Cattran, Daniel C., Fervenza, Fernando C., Pani, Antonello, Hamilton, Patrick, Harris, Shelly, Gupta, Sanjana, Cheshire, Chris, Dufek, Stephanie, Issler, Naomi, Pepper, Ruth J., Connolly, John, Powis, Stephen, Bockenhauer, Detlef, Stanescu, Horia C., Ashman, Neil, Loos, Ruth J. F., Kenny, Eimear E., Wuttke, Matthias, Eckardt, Kai-Uwe, Köttgen, Anna, Hofstra, Julia M., Coenen, Marieke J. H., Kiemeney, Lambertus A., Akilesh, Shreeram, Kretzler, Matthias, Beck, Lawrence H., Stengel, Benedicte, Debiec, Hanna, Ronco, Pierre, Wetzels, Jack F. M., Zoledziewska, Magdalena, Cucca, Francesco, Ionita-Laza, Iuliana, Lee, Hajeong, Hoxha, Elion, Stahl, Rolf A. K., Brenchley, Paul, Scolari, Francesco, Zhao, Ming-hui, Gharavi, Ali G., Kleta, Robert, Chen, Nan, and Kiryluk, Krzysztof

Published
2020
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28. Respuesta a Comentarios sobre el Documento de Consenso de Poliquistosis Renal Autosómica Dominante de la SENefro

Author

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

Published
2023
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30. Correction: gr/gr deletion predisposes to testicular germ cell tumour independently from altered spermatogenesis: results from the largest European study

Author

Moreno-Mendoza, Daniel, Casamonti, Elena, Paoli, Donatella, Chianese, Chiara, Riera-Escamilla, Antoni, Giachini, Claudia, Fino, Maria Grazia, Cioppi, Francesca, Lotti, Francesco, Vinci, Serena, Magini, Angela, Ars, Elisabet, Sanchez-Curbelo, Josvany, Ruiz-Castane, Eduard, Lenzi, Andrea, Lombardo, Francesco, and Krausz, Csilla

Published
2020
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31. Digenic Alport Syndrome

Author

Savige, Judy, primary, Renieri, Alessandra, additional, Ars, Elisabet, additional, Daga, Sergio, additional, Pinto, Anna Maria, additional, Rothe, Hansjorg, additional, Gale, Daniel P., additional, Aksenova, Marina, additional, Cerkauskaite, Agne, additional, Bielska, Olga, additional, Lipska-Zietkiewicz, Beata, additional, and Gibson, Joel T., additional

Published
2022
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32. Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference

Author

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.

Published
2022

33. Guidelines for Genetic Testing and Management of Alport Syndrome

Author

Genetica Klinische Genetica, Child Health, Cancer, Savige, Judy, Lipska-Zietkiewicz, Beata S, Watson, Elizabeth, Hertz, Jens Michael, Deltas, Constantinos, Mari, Francesca, Hilbert, Pascale, Plevova, Pavlina, Byers, Peter, Cerkauskaite, Agne, Gregory, Martin, Cerkauskiene, Rimante, Ljubanovic, Danica Galesic, Becherucci, Francesca, Errichiello, Carmela, Massella, Laura, Aiello, Valeria, Lennon, Rachel, Hopkinson, Louise, Koziell, Ania, Lungu, Adrian, Rothe, Hansjorg Martin, Hoefele, Julia, Zacchia, Miriam, Martic, Tamara Nikuseva, Gupta, Asheeta, van Eerde, Albertien, Gear, Susie, Landini, Samuela, Palazzo, Viviana, Al-Rabadi, Laith, Claes, Kathleen, Corveleyn, Anniek, Van Hoof, Evelien, van Geel, Micheel, Williams, Maggie, Ashton, Emma, Belge, Hendica, Ars, Elisabet, Bierzynska, Agnieszka, Gangemi, Concetta, Renieri, Alessandra, Storey, Helen, Flinter, Frances, Genetica Klinische Genetica, Child Health, Cancer, Savige, Judy, Lipska-Zietkiewicz, Beata S, Watson, Elizabeth, Hertz, Jens Michael, Deltas, Constantinos, Mari, Francesca, Hilbert, Pascale, Plevova, Pavlina, Byers, Peter, Cerkauskaite, Agne, Gregory, Martin, Cerkauskiene, Rimante, Ljubanovic, Danica Galesic, Becherucci, Francesca, Errichiello, Carmela, Massella, Laura, Aiello, Valeria, Lennon, Rachel, Hopkinson, Louise, Koziell, Ania, Lungu, Adrian, Rothe, Hansjorg Martin, Hoefele, Julia, Zacchia, Miriam, Martic, Tamara Nikuseva, Gupta, Asheeta, van Eerde, Albertien, Gear, Susie, Landini, Samuela, Palazzo, Viviana, Al-Rabadi, Laith, Claes, Kathleen, Corveleyn, Anniek, Van Hoof, Evelien, van Geel, Micheel, Williams, Maggie, Ashton, Emma, Belge, Hendica, Ars, Elisabet, Bierzynska, Agnieszka, Gangemi, Concetta, Renieri, Alessandra, Storey, Helen, and Flinter, Frances

Published
2022

34. Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency

Author

Lovric, Svjetlana, Goncalves, Sara, Gee, Heon Yung, Oskouian, Babak, Srinivas, Honnappa, Choi, Won-Il, Shril, Shirlee, Ashraf, Shazia, Tan, Weizhen, Rao, Jia, Airik, Merlin, Schapiro, David, Braun, Daniela A., Sadowski, Carolin E., Widmeier, Eugen, Jobst-Schwan, Tilman, Schmidt, Johanna Magdalena, Girik, Vladimir, Capitani, Guido, Suh, Jung H., Lachaussée, Noëlle, Arrondel, Christelle, Patat, Julie, Gribouval, Olivier, Furlano, Monica, Boyer, Olivia, Schmitt, Alain, Vuiblet, Vincent, Hashmi, Seema, Wilcken, Rainer, Bernier, Francois P., Innes, A. Micheil, Parboosingh, Jillian S., Lamont, Ryan E., Midgley, Julian P., Wright, Nicola, Majewski, Jacek, Zenker, Martin, Schaefer, Franz, Kuss, Navina, Greil, Johann, Giese, Thomas, Schwarz, Klaus, Catheline, Vilain, Schanze, Denny, Franke, Ingolf, Sznajer, Yves, Truant, Anne S., Adams, Brigitte, Désir, Julie, Biemann, Ronald, Pei, York, Ars, Elisabet, Lloberas, Nuria, Madrid, Alvaro, Dharnidharka, Vikas R., Connolly, Anne M., Willing, Marcia C., Cooper, Megan A., Lifton, Richard P., Simons, Matias, Riezman, Howard, Antignac, Corinne, Saba, Julie D., and Hildebrandt, Friedhelm

Published
2017
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36. The Benefits of Early versus Late Therapeutic Intervention in Fabry Disease

Author

Furlano, Monica, Ars, Elisabet, Matamala, Anna, Brossa Loidi, Vicens, Martí-Fàbregas, Joan, Venegas, María del Prado, Crespi, Jaume, Roe, Esther, Torra Balcells, Roser, and Universitat Autònoma de Barcelona

Subjects
General Medicine
Abstract

Background. Fabry disease (FD) is an X-linked lysosomal storage disorder caused by pathogenic variants of the GLA gene. Heterozygous female patients may show much more variability in clinical manifestations, ranging from asymptomatic to full-blown disease. Because of this heterogeneous clinical picture in women, the diagnosis of FD has typically been delayed for more than a decade, and the optimal time to initiate treatment remains controversial. Case Presentation. Here, we present two unrelated female patients diagnosed with FD harbouring the same pathogenic GLA variant. We discuss the implications of initiating specific therapy at different stages of the disease, with and without organ involvement (early versus late therapeutic intervention). Conclusions. These clinical cases suggest that initiating specific treatment at an earlier age in women with FD may prevent organ involvement and associated clinical events.

Published
2022

37. Consensus document on autosomal dominant polycystic kindey disease from the Spanish Working Group on Inherited Kindey Diseases. Review 2020 Documento de consenso de poliquistosis renal autosómica dominante del grupo de trabajo de enfermedades hereditarias de la Sociedad Española de Nefrología. Revisión 2020

Author

Ars, Elisabet, Bernis, C., Fraga Rodríguez, Gloria María, Furlano, Monica, Martínez, V., Martins, J., Ortiz, A., Pérez-Gómez, M.V., Rodríguez-Pérez, J.C., Sans, L., Torra Balcells, Roser, and Universitat Autònoma de Barcelona

Subjects
Autosomal dominant polycystic kidney disease, Consensus, Progression, Recommendations, ADPKD, Management
Abstract

Altres ajuts: Sociedad Española de Nefrología (SEN); Spanish Network for Renal Research (REDinREN RD016/0006). 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.

Published
2022

38. Comparative analysis of tools to predict rapid progression in autosomal dominant polycystic kidney disease

Author

Naranjo, Javier, Furlano, Monica, Torres, Ferran, Hernandez, Jonathan, Pybus, Marc, Ejarque, Laia, Cordoba, Christian, Guirado, Luis, Ars, Elisabet, Torra Balcells, Roser, and Universitat Autònoma de Barcelona

Subjects
Transplantation, Nephrology, Mayo classification, PROPKD, prediction, rapid progression, total kidney volume, ADPKD
Abstract

Background Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic kidney disease and shows a wide phenotype. Only patients with rapid progression (RP) are included in clinical trials or are approved to receive disease-modifying drugs. This study aims at comparing different available predictive tools in ADPKD with the Mayo classification (MC) identification of rapid progressors based on high total kidney volume (TKV) according to age. Methods A total of 164 ADPKD patients were recruited retrospectively from a single centre. The performance of diverse tools to identify RP defined as being in MC categories 1C–1E was assessed. Results A total of 118 patients were MC 1C–1E. The algorithm developed by the European Renal Association–European Dialysis and Transplant Association Working Group on Inherited Kidney Disorders/European Renal Best Practice had a low sensitivity in identifying MC 1C–1E. The sensitivity and specificity of TKV to predict RP depend on the cut-off used. A kidney length of >16.5 cm before age 45 years has high specificity but low sensitivity. Assessing the MC by ultrasonography had high levels of agreement with magnetic resonance imaging (MRI) data, especially for 1A, 1D and 1E. The estimated glomerular filtration rate (eGFR) decline was very sensitive but had low specificity. In contrast, the Predicting Renal Outcome in Polycystic Kidney Disease (PROPKD) score was very specific but had poor sensitivity. Having hypertension before 35 years of age is a good clinical predictor of MC 1C–1E. Family history can be of help in suggesting RP, but by itself it lacks sufficient sensitivity and specificity. Conclusions The MC by ultrasonography could be an option in hospitals with limited access to MRI as it performs well generally, and especially at the extremes of the MC, i.e. classes 1A, 1D and 1E. The eGFR decline is sensitive but not very specific when compared with the MC, whereas the PROPKD score is very specific but has low sensitivity. Integrating the different tools currently available to determine RP should facilitate the identification of rapid progressors among patients with ADPKD.

Published
2021

39. Guidelines for Genetic Testing and Management of Alport Syndrome

Author

Savige, Judy, primary, Lipska-Zietkiewicz, Beata S., additional, Watson, Elizabeth, additional, Hertz, Jens Michael, additional, Deltas, Constantinos, additional, Mari, Francesca, additional, Hilbert, Pascale, additional, Plevova, Pavlina, additional, Byers, Peter, additional, Cerkauskaite, Agne, additional, Gregory, Martin, additional, Cerkauskiene, Rimante, additional, Ljubanovic, Danica Galesic, additional, Becherucci, Francesca, additional, Errichiello, Carmela, additional, Massella, Laura, additional, Aiello, Valeria, additional, Lennon, Rachel, additional, Hopkinson, Louise, additional, Koziell, Ania, additional, Lungu, Adrian, additional, Rothe, Hansjorg Martin, additional, Hoefele, Julia, additional, Zacchia, Miriam, additional, Martic, Tamara Nikuseva, additional, Gupta, Asheeta, additional, van Eerde, Albertien, additional, Gear, Susie, additional, Landini, Samuela, additional, Palazzo, Viviana, additional, al-Rabadi, Laith, additional, Claes, Kathleen, additional, Corveleyn, Anniek, additional, Van Hoof, Evelien, additional, van Geel, Micheel, additional, Williams, Maggie, additional, Ashton, Emma, additional, Belge, Hendica, additional, Ars, Elisabet, additional, Bierzynska, Agnieszka, additional, Gangemi, Concetta, additional, Renieri, Alessandra, additional, Storey, Helen, additional, and Flinter, Frances, additional

Published
2022
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40. DNA variant databases improve test accuracy and phenotype prediction in Alport syndrome

Author

Savige, Judy, Ars, Elisabet, Cotton, Richard G.H., Crockett, David, Dagher, Hayat, Deltas, Constantinos, Ding, Jie, Flinter, Frances, Pont-Kingdon, Genevieve, Smaoui, Nizar, Torra, Roser, and Storey, Helen

Subjects
Databases -- Usage -- Research, Genetic variation -- Physiological aspects -- Research, Alport's syndrome -- Risk factors -- Genetic aspects -- Diagnosis -- Research, CD-ROM catalog, Database, CD-ROM database, Health
Abstract

X-linked Alport syndrome is a form of progressive renal failure caused by pathogenic variants in the COL4A5 gene. More than 700 variants have been described and a further 400 are estimated to be known to individual laboratories but are unpublished. The major genetic testing laboratories for X-linked Alport syndrome worldwide have established a Web-based database for published and unpublished COL4A5 variants (https://grenada.lumc.nl/ LOVD2/COL4A/home.php?select_db=COL4A5). This conforms with the recommendations of the Human Variome Project: it uses the Leiden Open Variation Database (LOVD) format, describes variants according to the human reference sequence with standardized nomenclature, indicates likely pathogenicity and associated clinical features, and credits the submitting laboratory. The database includes non-pathogenic and recurrent variants, and is linked to another COL4A5 mutation database and relevant bioinformatics sites. Access is free. Increasing the number of COL4A5 variants in the public domain helps patients, diagnostic laboratories, clinicians, and researchers. The database improves the accuracy and efficiency of genetic testing because its variants are already categorized for pathogenicity. The description of further COL4A5 variants and clinical associations will improve our ability to predict phenotype and our understanding of collagen IV biochemistry. The database for X-linked Alport syndrome represents a model for databases in other inherited renal diseases. Keywords Alport syndrome * Gene variant * DNA database * Genetic testing * Inherited renal disease, Alport syndrome Alport syndrome is an inherited cause of renal failure that affects at least one in 50,000 individuals [1]. Eighty-five percent of families have X-linked disease (MIM 301050) [2], [...]

Published
2014
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41. Cost-effective PKHD1 genetic testing for autosomal recessive polycystic kidney disease

Author

Krall, Paola, Pineda, Cristina, Ruiz, Patricia, Ejarque, Laia, Vendrell, Teresa, Camacho, Juan Antonio, Mendizabal, Santiago, Oliver, Artur, Ballarin, Jose, Torra, Roser, and Ars, Elisabet

Subjects
Medical care, Cost of -- Research, Prenatal diagnosis -- Usage -- Economic aspects -- Research, Polycystic kidney disease -- Diagnosis -- Economic aspects -- Research, Genetic screening -- Usage -- Economic aspects -- Research, Health
Abstract

Background Genetic diagnosis of autosomal recessive polycystic kidney disease (ARPKD) is challenging due to the length and allelic heterogeneity of the PKHD1 gene. Mutations appear to be clustered at specific exons, depending on the geographic origin of the patient. We aimed to identify the PKHD1 exons most likely mutated in Spanish ARPKD patients. Methods Mutation analysis was performed in 50 ARPKD probands and nine ARPKD-suspicious patients by sequencing PKHD1 exons arranged by their reported mutation frequency. Haplotypes containing the most frequent mutations were analyzed. Other PKD genes (HNF1B, PKD1, PKD2) were sequenced in PKHD1 -negative cases. Results Thirty-six different mutations (concentrated in 24 PKHD1 exons) were detected, giving a mutation detection rate of 86%. The screening of five exons (58, 32, 34, 36, 37) yielded a 54% chance of detecting one mutation; the screening of nine additional exons (3, 9, 39, 61, 5, 22, 26, 41, 57) increased the chance to 76%. The c.9689delA mutation was present in 17 (34%) patients, all of whom shared the same haplotype. Two HNF1B mutations and one PKD1 variant were detected in negative cases. Conclusions Establishing a PKHD1 exon mutation profile in a specific population and starting the analysis with the most likely mutated exons might significantly enhance the efficacy of genetic testing in ARPKD. Analysis of other PKD genes might be considered, especially in suspicious cases. Keywords ARPKD * PKHD1 * Genetic testing * Exon mutation profile, Introduction Autosomal recessive polycystic kidney disease (PKD) (ARPKD, OMIM no. 263200) is a severe genetic nephropathy that typically presents in the perinatal period and occurs in 1:20, 000 live births [...]

Published
2014
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42. GWAS defines pathogenic signaling pathways and prioritizes drug targets for IgA nephropathy

Author

Kiryluk, Krzysztof, primary, Sanchez-Rodriguez, Elena, additional, Zhou, Xu-jie, additional, Zanoni, Francesca, additional, Liu, Lili, additional, Mladkova, Nikol, additional, Khan, Atlas, additional, Marasa, Maddalena, additional, Zhang, Jun-Ying, additional, Balderes, Olivia, additional, Sanna-Cherchi, Simone, additional, Bomback, Andrew S., additional, Canetta, Pietro A., additional, Appel, Gerald B., additional, Radhakrishnan, Jai, additional, Trimarchi, Hernan, additional, Sprangers, Ben, additional, Cattran, Daniel C., additional, Reich, Heather, additional, Pei, York, additional, Ravani, Pietro, additional, Galesic, Kresimir, additional, Maixnerova, Dita, additional, Tesar, Vladimir, additional, Stengel, Benedicte, additional, Metzger, Marie, additional, Canaud, Guillaume, additional, Maillard, Nicolas, additional, Berthoux, Francois, additional, Berthelot, Laureline, additional, Pillebout, Evangeline, additional, Monteiro, Renato, additional, Nelson, Raoul, additional, Wyatt, Robert, additional, Smoyer, William, additional, Mahan, John, additional, Samhar, Al-Akash, additional, Hidalgo, Guillermo, additional, Quiroga, Alejandro, additional, Weng, Patricia, additional, Sreedharan, Raji, additional, Selewski, David, additional, Davis, Keefe, additional, Kallash, Mahmoud, additional, Vasylyeva, Tetyana L., additional, Rheault, Michelle, additional, Chishti, Aftab, additional, Ranch, Daniel, additional, Wenderfer, Scott E., additional, Samsonov, Dmitry, additional, Claes, Donna J., additional, Oleh, Akchurin, additional, Goumenos, Dimitrios, additional, Stangou, Maria, additional, Nagy, Judit, additional, Kovacs, Tibor, additional, Fiaccadori, Enrico, additional, Amoroso, Antonio, additional, Barlassina, Cristina, additional, Cusi, Daniele, additional, Del Vecchio, Lucia, additional, Battaglia, Giovanni-Giorgio, additional, Bodria, Monica, additional, Boer, Emanuela, additional, Bono, Luisa, additional, Boscutti, Giuliano, additional, Caridi, Gianluca, additional, Lugani, Francesca, additional, Ghiggeri, GianMarco, additional, Coppo, Rosanna, additional, Peruzzi, Licia, additional, Esposito, Vittoria, additional, Esposito, Ciro, additional, Feriozzi, Sandro, additional, Polci, Rosaria, additional, Frasca, Giovanni, additional, Galliani, Marco, additional, Garozzo, Maurizio, additional, Mitrotti, Adele, additional, Gesualdo, Loreto, additional, Granata, Simona, additional, Zaza, Gianluigi, additional, Londrino, Francesco, additional, Magistroni, Riccardo, additional, Pisani, Isabella, additional, Magnano, Andrea, additional, Marcantoni, Carmelita, additional, Messa, Piergiorgio, additional, Mignani, Renzo, additional, Pani, Antonello, additional, Ponticelli, Claudio, additional, Roccatello, Dario, additional, Salvadori, Maurizio, additional, Salvi, Erica, additional, Santoro, Domenico, additional, Gembillo, Guido, additional, Savoldi, Silvana, additional, Spotti, Donatella, additional, Zamboli, Pasquale, additional, Izzi, Claudia, additional, Alberici, Federico, additional, Delbarba, Elisa, additional, Florczak, Michal, additional, Krata, Natalia, additional, Mucha, Krzysztof, additional, Paczek, Leszek, additional, Niemczyk, Stanisaw, additional, Moszczuk, Barbara, additional, Panczyk-Tomaszewska, Magorzata, additional, Mizerska-Wasiak, Malgorzata, additional, Perkowska-Ptasinska, Agnieszka, additional, Baczkowska, Teresa, additional, Durlik, Magdalena, additional, Pawlaczyk, Krzysztof, additional, Sikora, Przemyslaw, additional, Zaniew, Marcin, additional, Kaminska, Dorota, additional, Krajewska, Magdalena, additional, Kuzmiuk-Glembin, Izabella, additional, Heleniak, Zbigniew, additional, Bullo-Piontecka, Barbara, additional, Liberek, Tomasz, additional, Dbska-Slizien, Alicja, additional, Hryszko, Tomasz, additional, Materna-Kiryluk, Anna, additional, Miklaszewska, Monika, additional, Szczepanska, Maria, additional, Dyga, Katarzyna, additional, Machura, Edyta, additional, Siniewicz-Luzenczyk, Katarzyna, additional, Pawlak-Bratkowska, Monika, additional, Tkaczyk, Marcin, additional, Runowski, Dariusz, additional, Kwella, Norbert, additional, Drozdz, Dorota, additional, Habura, Ireneusz, additional, Kronenberg, Florian, additional, Prikhodina, Larisa, additional, van Heel, David, additional, Fontaine, Bertrand, additional, Cotsapas, Chris, additional, Wijmenga, Cisca, additional, Franke, Andre, additional, Annese, Vito, additional, Gregersen, Peter K., additional, Parameswaran, Sreeja, additional, Weirauch, Matthew, additional, Kottyan, Leah, additional, Harley, John B., additional, Suzuki, Hitoshi, additional, Narita, Ichiei, additional, Goto, Shin, additional, Lee, Hajeong, additional, Kim, Dong-Ki, additional, Kim, Yon Su, additional, Park, Jin-Ho, additional, Cho, BeLong, additional, Choi, Murim, additional, Van Wijk, Ans, additional, Huerta, Ana, additional, Ars, Elisabet, additional, Ballarin, Jose, additional, Lundberg, Sigrid, additional, Vogt, Bruno, additional, Mani, Laila-Yasmin, additional, Caliskan, Yasar, additional, Barratt, Jonathan, additional, Abeygunaratne, Thilini, additional, Kalra, Philip A., additional, Gale, Daniel P., additional, Panzer, Ulf, additional, Rauen, Thomas, additional, Floege, Jurgen, additional, Schlosser, Pascal, additional, Ekici, Arif B., additional, Eckardt, Kai-Uwe, additional, Chen, Nan, additional, Xie, Jingyuan, additional, Lifton, Richard P., additional, Loos, Ruth J.F., additional, Kenny, Eimear E., additional, Ionita-Laza, Iuliana, additional, Kottgen, Anna, additional, Julian, Bruce, additional, Novak, Jan, additional, Scolari, Francesco, additional, Zhang, Hong, additional, and Gharavi, Ali G., additional

Published
2021
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43. Clinical and genetic characterization of a cohort of proteinuric patients with biallelic CUBN variants

Author

Domingo-Gallego, Andrea, primary, Pybus, Marc, additional, Madariaga, Leire, additional, Piñero-Fernández, Juan Alberto, additional, González-Pastor, Sara, additional, López-González, Mercedes, additional, Simarro-Rueda, Esther, additional, Quintanilla-Mata, María Luisa, additional, Matoses-Ruipérez, María Luisa, additional, Ejarque-Vila, Laia, additional, Cornec-Le Gall, Emilie, additional, Guirado, Lluís, additional, Torra, Roser, additional, Ariceta, Gema, additional, and Ars, Elisabet, additional

Published
2021
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44. Clinical and Genetic Features of Autosomal Dominant Alport Syndrome: A Cohort Study

Author

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
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45. Outcome associated with prescription of cardiac rehabilitation according to predicted risk after acute myocardial infarction: Insights from the FAST-MI registries

Author

Debiec, Hanna, Dossier, Claire, Letouzé, Eric, Gillies, Christopher, Vivarelli, Marina, Putler, Rosemary, Ars, Elisabet, Jacqz-Aigrain, Evelyne, Elie, Valery, Colucci, Manuela, Debette, Stéphanie, Amouyel, Philippe, Elalaoui, Siham, Sefiani, Abdelaziz, Dubois, Valérie, Kretzler, Matthias, Ballarin, Jose, Emma, Francesco, Sampson, Matthew, Deschênes, Georges, Ronco, Pierre, Ederhy, Stephane, Cohen, Ariel, Boccara, Franck, Aissaoui, Nadia, Elbaz, Meyer, Bonnefoy-Cudraz, Eric, Druelles, Philipe, Andrieu, Stéphane, Angoulvant, Denis, Furber, Alain, Cottin, Yves, Puymirat, Etienne, Bonaca, Marc, Iliou, Marie-Christine, Tea, Victoria, Ducrocq, Grégory, Douard, Hervé, Labrunee, Marc, Plastaras, Philoktimon, Chevallereau, Pierre, Taldir, Guillaume, Bataille, Vincent, Ferrières, Jean, Schiele, François, Simon, Tabassome, Danchin, Nicolas, Centre de Ressources Biologiques APHP-SU (PASS-CRB-APHP-SU), Unité Mixte de Service Production et Analyse de données en Sciences de la vie et en Santé (PASS), and Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM)

Subjects
Male, Time Factors, MESH: Registries, health care facilities, manpower, and services, [SDV]Life Sciences [q-bio], medicine.medical_treatment, Cardiac rehabilitation, 030204 cardiovascular system & hematology, MESH: Risk Assessment, MESH: Aged, 80 and over, 0302 clinical medicine, Risk Factors, MESH: Risk Factors, Medicine, Registries, MESH: Cardiac Rehabilitation, 030212 general & internal medicine, Myocardial infarction, Atherothrombotic risk stratification, Non-ST Elevated Myocardial Infarction, health care economics and organizations, Cancer, MESH: Treatment Outcome, Aged, 80 and over, MESH: Aged, education.field_of_study, MESH: Middle Aged, Framingham Risk Score, Rehabilitation, nephrotic syndrome, MESH: Polymorphism, Single Nucleotide, Hazard ratio, Score, genetic renal disease, General Medicine, Middle Aged, MESH: Recovery of Function, 3. Good health, In-hospital mortality, Treatment Outcome, Stratification risque athérothrombotique, cardiovascular system, Female, France, Cardiology and Cardiovascular Medicine, medicine.medical_specialty, pediatrics, education, Population, Infarctus du myocarde, Acute myocardial infarction, Mortalité, MESH: Phenotype, Risk Assessment, 03 medical and health sciences, Intensive care, Internal medicine, MESH: Spain, Humans, cardiovascular diseases, Mortality, Réadaptation cardiaque, MESH: ST Elevation Myocardial Infarction, Medical prescription, Aged, focal segmental glomerulosclerosis, genome-wide association study, MESH: Humans, business.industry, MESH: Time Factors, MESH: Italy, Recovery of Function, medicine.disease, MESH: Male, MESH: Quantitative Trait Loci, MESH: Steroids, Confidence interval, MESH: France, MESH: Non-ST Elevated Myocardial Infarction, gene expression, Mortalité hospitalière, ST Elevation Myocardial Infarction, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, MESH: Nephrotic Syndrome, business, MESH: Female
Abstract

Cardiac rehabilitation is strongly recommended in patients after acute myocardial infarction.To assess cardiac rehabilitation prescription after acute myocardial infarction according to predicted risk, and its association with 1-year mortality, using the FAST-MI registries.We used data from three 1-month French nationwide registries, conducted 5 years apart from 2005 to 2015, including 13130 patients with acute myocardial infarction admitted to coronary or intensive care units. Atherothrombotic risk stratification was performed using the Thrombolysis In Myocardial Infarction Risk Score for Secondary Prevention (TRS-2P). Patients were classified into three categories: Group 1 (low risk; no or one risk indicator; score of 0 or 1); Group 2 (intermediate risk; two risk indicators; score of 2); and Group 3 (high risk; at least three risk indicators; score of≥3).Among the 12291 patients, cardiac rehabilitation prescription was 43.6% (49.9% in Group 1; 43.0% in Group 2; 35.2% in Group 3). Using Cox multivariable analysis, cardiac rehabilitation prescription was associated with lower mortality at 1 year in the overall population (3.8% vs. 8.2%; hazard ratio [HR] 0.72, 95% confidence interval [CI] 0.61-0.85; P0.001). Cardiac rehabilitation was associated with improved 1-year mortality, with homogeneous relative risk reductions in low- and intermediate-risk categories (HR 0.70, 95% CI 0.51-0.94) compared with high-risk patients (HR 0.72, 95% CI 0.59-0.88). In absolute terms, however, mortality decrease associated with cardiac rehabilitation was positively correlated with risk level (Group 1, 0.9% vs. 2.4%; Group 2, 3.0% vs. 4.2%; Group 3, 10.5% vs. 17.3%).Cardiac rehabilitation prescription was inversely correlated with patient risk. A positive association between cardiac rehabilitation and 1-year survival after acute myocardial infarction was present whatever the risk level, but the greatest mortality reduction was observed in high-risk patients.

Published
2019

47. Clinical and genetic characterization of a cohort of proteinuric patients with biallelic CUBN variants.

Author

Domingo-Gallego, Andrea, Pybus, Marc, Madariaga, Leire, Piñero-Fernández, Juan Alberto, González-Pastor, Sara, López-González, Mercedes, Simarro-Rueda, Esther, Quintanilla-Mata, María Luisa, Matoses-Ruipérez, María Luisa, Ejarque-Vila, Laia, Gall, Emilie Cornec-Le, Guirado, Lluís, Torra, Roser, Ariceta, Gema, and Ars, Elisabet

Subjects
ACE inhibitors, ANGIOTENSIN-receptor blockers, GENETIC variation, RENAL biopsy, KIDNEY diseases, GENETIC testing, PEDIATRIC nephrology
Abstract

Background Proteinuria is a well-known risk factor for progressive kidney impairment. Recently, C-terminal cubilin (CUBN) variants have been associated with isolated proteinuria without progression of kidney disease. Methods Genetic testing of 347 families with proteinuria of suspected monogenic cause was performed by next-generation sequencing of a custom-designed kidney disease gene panel. Families with CUBN biallelic proteinuria-causing variants were studied at the clinical, genetic, laboratory and pathologic levels. Results Twelve families (15 patients) bearing homozygous or compound heterozygous proteinuria-causing variants in the C-terminal CUBN gene were identified, representing 3.5% of the total cohort. We identified 14 different sequence variants, five of which were novel. The median age at diagnosis of proteinuria was 4 years (range 9 months to 44 years), and in most cases proteinuria was detected incidentally. Thirteen patients had moderate to severe proteinuria at diagnosis without nephrotic syndrome. These patients showed lack of response to angiotensin-converting enzyme inhibitor (ACEi) and angiotensin receptor blocker (ARB) treatment, normal kidney biopsy and preservation of normal kidney function over time. The two remaining patients presented a more severe phenotype, likely caused by associated comorbidities. Conclusions Identification of C-terminal pathogenic CUBN variants is diagnostic of an entity characterized by glomerular proteinuria, normal kidney histology and lack of response to ACEi/ARB treatment. This study adds evidence and increases awareness about albuminuria caused by C-terminal variants in the CUBN gene, which is a benign condition usually diagnosed in childhood with preserved renal function until adulthood. [ABSTRACT FROM AUTHOR]

Published
2022
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48. Advances and unmet needs in genetic, basic and clinical science in Alport syndrome : report from the 2015 International Workshop on Alport Syndrome

Author

Gross, Oliver, Kashtan, Clifford E., Rheault, Michelle N., Flinter, Frances, Savige, Judith, Miner, Jeffrey H., Torra Balcells, Roser, Ars, Elisabet, Deltas, Constantinos, Savva, Isavella, Perin, Laura, Renieri, Alessandra, Ariani, Francesca, Mari, Francesca, Baigent, Colin, Judge, Parminder, Knebelman, Bertrand, Heidet, Laurence, Lagas, Sharon, Blatt, Dave, Ding, Jie, Zhang, Yanqin, Gale, Daniel P., Prunotto, Marco, Xue, Yong, Schachter, Asher D., Morton, Lori C. G., Blem, Jacqui, Huang, Michael, Liu, Shiguang, Vallee, Sebastien, Renault, Daniel, Schifter, Julia, Skelding, Jules, Gear, Susie, Friede, Tim, Turner, A. Neil, Lennon, Rachel, and Universitat Autònoma de Barcelona

Subjects
Chronic kidney disease, Hereditary kidney disease, Guidelines, Nephroprotection, Alport syndrome
Abstract

Alport syndrome (AS) is a genetic disease characterized by haematuric glomerulopathy variably associated with hearing loss and anterior lenticonus. It is caused by mutations in the COL4A3, COL4A4 or COL4A5 genes encoding the α3α4α5(IV) collagen heterotrimer. AS is rare, but it accounts for >1% of patients receiving renal replacement therapy. Angiotensin-converting enzyme inhibition slows, but does not stop, the progression to renal failure; therefore, there is an urgent requirement to expand and intensify research towards discovering new therapeutic targets and new therapies. The 2015 International Workshop on Alport Syndrome targeted unmet needs in basic science, genetics and diagnosis, clinical research and current clinical care. In three intensive days, more than 100 international experts including physicians, geneticists, researchers from academia and industry, and patient representatives from all over the world participated in panel discussions and breakout groups. This report summarizes the most important priority areas including (i) understanding the crucial role of podocyte protection and regeneration, (ii) targeting mutations by new molecular techniques for new animal models and potential gene therapy, (iii) creating optimal interaction between nephrologists and geneticists for early diagnosis, (iv) establishing standards for mutation screening and databases, (v) improving widespread accessibility to current standards of clinical care, (vi) improving collaboration with the pharmaceutical/biotech industry to investigate new therapies, (vii) research in hearing loss as a huge unmet need in Alport patients and (viii) the need to evaluate the risk and benefit of novel (including 'repurposing') therapies on an international basis.

Published
2021

49. How genomics reclassifies diseases : the case of Alport syndrome

Author

Torra, Roser, Furlano, Monica, and Ars, Elisabet

Subjects
autosomal dominant Alport syndrome, Thin basement membrane disease, medicine.medical_specialty, Benign hematuria, 030232 urology & nephrology, COL4A3, familial haematuria, Genomics, Disease, urologic and male genital diseases, Nephropathy, 03 medical and health sciences, 0302 clinical medicine, thin basement membrane disease, medicine, COL4A4, Alport syndrome, AcademicSubjects/MED00340, Editorial Comments, Familial haematuria, Confusion, Transplantation, business.industry, Autosomal dominant Alport syndrome, medicine.disease, Dermatology, Nephrology, medicine.symptom, business, Alport
Abstract

Altres ajuts: The author's research is funded by the Instituto de Salud Carlos III/Fondo Europeo de Desarrollo Regional (FEDER) funds, RETIC REDINREN RD16/0009 FIS FEDER FUNDS. In this issue, Matthews et al. provide a comprehensive review of published cohorts with heterozygous pathogenic variants in COL4A3 or COL4A4, documenting the wide spectrum of the disease. Due to the extreme phenotypes that patients with heterozygous pathogenic variants in COL4A3 or COL4A4 may show, the disease has been referred to in a variety of ways, including 'autosomal dominant Alport syndrome', 'thin basement membrane disease', 'thin basement membrane nephropathy', 'familial benign hematuria' and 'carriers of autosomal dominant Alport syndrome'. This confusion over terminology has prevented nephrologists from being sufficiently aware of the relevance of the entity. Nowadays, however, next-generation sequencing facilitates the diagnosis and it is becoming a relatively frequent finding in haematuric-proteinuric nephropathies of unknown origin, even in non-familial cases. There is a need to raise awareness among nephrologists about the disease in order to improve diagnosis and provide better management for these patients.

Published
2021

50. Clinical and genetic features of autosomal dominant alport syndrome: a case series

Author

Furlano, Mónica, Martínez, Víctor, Pybus Oliveras, Marc, 1985, Arce, Yolanda, Crespi, Jaume, Del Prado Venegas, María, Bullich, Gemma, Domingo, Andrea, Ayasreh, Nadia, Benito, Sílvia, Lorente, Laura, Ruiz, Patricia, López Gonzalez, Vanesa, Arlandis, Rosa, Cabello, Elisa, Torres, Ferran, Guirado, Lluis, Ars, Elisabet, and Torra, Roser

Subjects
Ronyons -- Malalties, Síndrome d'Alport, Genètica
Abstract

Rationale & objective: Alport syndrome (AS) is a common genetic kidney disease accounting for approximately 2% of patients receiving kidney replacement therapy (KRT). It is caused by pathogenic variants in COL4A3, COL4A4 or COL4A5 genes. 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) while 133 harbored a pathogenic variant in COL4A4 (43 families). Digenic/complex inheritance was observed in 12 patients. Overall, the median kidney survival was 67 years (95% CI, 58-73), without significant differences across sex (P=0.79), causative genes (P=0.55) or types of variant (P=0.99). 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 eGFR decline was -1.46 mL/min/1.73 m2 per year (-1.66 to -1.26) for the overall group, with no significant differences between ADAS genes (P=0.24). Limitations: The relatively small size of this series from a single country, potentially limiting generalizability. Conclusions: ADAS patients have a wide spectrum 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. This study was funded by the Instituto de Salud Carlos III/Fondo Europeo de Desarrollo Regional (FEDER) funds, RETIC REDINREN RD16/0009 FIS FEDER FUNDS (PI15/01824, PI16/01998, PI18/00362, PI19/01633), and the Catalan Government (AGAUR 2017/SGR-00676)

Published
2021

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