Implementation of a Kidney Genetic Service Into the Diagnostic Pathway for Patients With Chronic Kidney Disease in Canada

Authors: Schott, Clara ¹, Arnaldi, Monica ², Baker, Cadence ², Wang, Jian ³, McIntyre, Adam D. ³, Colaiacovo, Samantha ⁴, Relouw, Sydney ², Offerni, Gabriela Almada ², Campagnolo, Carla ⁴, Van Nynatten, Logan R. ⁵, Pourtousi, Ava ¹, Drago-Catalfo, Alexa ⁶, Lebedeva, Victoria ², Chiu, Michael ^{2, 5}, Cowan, Andrea ^{2, 5}, Filler, Guido ^{5, 7}, Gunaratnam, Lakshman ^{2, 5}, House, Andrew A. ^{2, 5}, Huang, Susan ^{2, 5}, Iyer, Hariharan ^{2, 5}, Jain, Arsh K. ^{2, 5}, Jevnikar, Anthony M. ^{2, 5}, Lotfy, Khaled ^{2, 5}, Moist, Louise ^{2, 5}, Rehman, Faisal ^{2, 5}, Roshanov, Pavel S. ^{2, 5, 8, 9}, Sharma, Ajay P. ⁷, Weir, Matthew A. ^{2, 5}, Kidd, Kendrah ¹⁰, Bleyer, Anthony J. ¹⁰, Hegele, Robert A. ^{1, 5}, Connaughton, Dervla M. ^{1, 2, 5, ∗}

Source: In Kidney International Reports February 2025 10(2):574-590

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

Authors: 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., Gharavi, Ali G.

Source: In American Journal of Kidney Diseases December 2024 84(6):751-766

A Novel Monoallelic ALG5 Variant Causing Late-Onset ADPKD and Tubulointerstitial Fibrosis

Authors: Elhassan, Elhussein A.E., Kmochová, Tereza, Benson, Katherine A., Fennelly, Neil K., Barešová, Veronika, Kidd, Kendrah, Doyle, Brendan, Dorman, Anthony, Morrin, Martina M., Kyne, Niamh C., Vyleťal, Petr, Hartmannová, Hana, Hodaňová, Kateřina, Sovová, Jana, Mušálková, Dita, Vrbacká, Alena, Přistoupilová, Anna, Živný, Jan, Svojšová, Klára, Radina, Martin, Stránecký, Viktor, Loginov, Dmitry, Pompach, Petr, Novák, Petr, Vaníčková, Zdislava, Hansíková, Hana, Rajnochová-Bloudíčková, Silvie, Viklický, Ondřej, Hůlková, Helena, Cavalleri, Gianpiero L., Hnízda, Aleš, Bleyer, Anthony J., Kmoch, Stanislav, Conlon, Peter J., Živná, Martina

Source: In Kidney International Reports July 2024 9(7):2209-2226

Autosomal dominant ApoA4 mutations present as tubulointerstitial kidney disease with medullary amyloidosis

Authors: Kmochová, Tereza, Kidd, Kendrah O., Orr, Andrew, Hnízda, Aleš, Hartmannová, Hana, Hodaňová, Kateřina, Vyleťal, Petr, Naušová, Karolína, Brinsa, Vítězslav, Trešlová, Helena, Sovová, Jana, Barešová, Veronika, Svojšová, Klára, Vrbacká, Alena, Stránecký, Viktor, Robins, Victoria C., Taylor, Abbigail, Martin, Lauren, Rivas-Chavez, Ana, Payne, Riley, Bleyer, Heidi A., Williams, Adrienne, Rennke, Helmut G., Weins, Astrid, Short, Patrick J., Agrawal, Varun, Storsley, Leroy J., Waikar, Sushrut S., McPhail, Ellen D., Dasari, Surendra, Leung, Nelson, Hewlett, Tom, Yorke, Jake, Gaston, Daniel, Geldenhuys, Laurette, Samuels, Mark, Levine, Adam P., West, Michael, Hůlková, Helena, Pompach, Petr, Novák, Petr, Weinberg, Richard B., Bedard, Karen, Živná, Martina, Sikora, Jakub, Bleyer, Anthony J., Sr., Kmoch, Stanislav

Source: In Kidney International April 2024 105(4):799-811

Gout among Patients with Dialysis: Prevalence, Associated Factors, Treatment Patterns, and Outcomes—Population-Based Retrospective Cohort Study

Authors: Zhang, Yi, Kshirsagar, Onkar, Marder, Brad A., Cohen, Amy R., LaMoreaux, Brian, Bleyer, Anthony J.

Source: Kidney360. 4(2):177-187

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100195021448.0x000001&indx=1&recIds=ETOCvdc_100195021448.0x000001

Bi-allelic REN Mutations and Undetectable Plasma Renin Activity in a Patient With Progressive CKD

Authors: Jorge, Sofia, Kidd, Kendrah, Vylet'al, Petr, Nogueira, Estela, Martin, Lauren, Howard, Katrice, Barešová, Veronika, Hodaňová, Kateřina, Hnízda, Aleš, Moldovan, Oana, Silveira, Catarina, Coutinho, Ana Margarida, Lopes, José António, Bleyer, Anthony J., Kmoch, Stanislav, Živná, Martina

Source: Kidney international reports. 8(5):1112-1116

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100189260776.0x000001&indx=1&recIds=ETOCvdc_100189260776.0x000001

Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family

Authors: de Haan, Amber, van Eerde, Albertien M., Eijgelsheim, Mark, Rump, Patrick, van der Zwaag, Bert, Hennekam, Eric, Živná, Martina, Kmoch, Stanislav, Bleyer, Anthony J., Kidd, Kendrah, Vogt, Liffert, Knoers, Nine V.A.M., de Borst, Martin H.

Source: Kidney international. 103(5):986-989

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100187700859.0x000001&indx=1&recIds=ETOCvdc_100187700859.0x000001

An intermediate-effect size variant in UMOD confers risk for chronic kidney disease

Authors: Genomics England Research Consortium, Olinger, Eric, Schaeffer, Celine, Kidd, Kendrah, Elhassan, Elhussein A. E., Cheng, Yurong, Dufour, Inès, Schiano, Guglielmo, Mabillard, Holly, Pasqualetto, Elena, Hofmann, Patrick, Fuster, Daniel G., Kistler, Andreas D., Wilson, Ian J., Kmoch, Stanislav, Raymond, Laure, Robert, Thomas, Eckardt, Kai-Uwe, Bleyer, Anthony J., Köttgen, Anna, Conlon, Peter J., Wiesener, Michael, Sayer, John A., Rampoldi, Luca, Devuyst, Olivier

Source: Proceedings of the National Academy of Sciences of the United States of America, 2022 Aug . 119(33), 1-11.

Access URL: https://www.jstor.org/stable/27206897

A mutation in the SAA1 promoter causes hereditary amyloid A amyloidosis

Authors: Sikora, Jakub, Kmochová, Tereza, Mušálková, Dita, Pohludka, Michal, Přikryl, Petr, Hartmannová, Hana, Hodaňová, Kateřina, Trešlová, Helena, Nosková, Lenka, Mrázová, Lenka, Stránecký, Viktor, Lunová, Mariia, Jirsa, Milan, Honsová, Eva, Dasari, Surendra, McPhail, Ellen D., Leung, Nelson, Živná, Martina, Bleyer, Anthony J., Rychlík, Ivan, Ryšavá, Romana, Kmoch, Stanislav

Source: Kidney international. 101(2):349-359

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100164489323.0x000001&indx=1&recIds=ETOCvdc_100164489323.0x000001

Autosomal dominant tubulointerstitial kidney disease: A review

Authors: Živná, Martina, Kidd, Kendrah O., Barešová, Veronika, Hůlková, Helena, Kmoch, Stanislav, Bleyer, Anthony J.

Source: American journal of medical genetics.Part C.Seminars in medical genetics. 190(3):309-324

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100163759102.0x000001&indx=1&recIds=ETOCvdc_100163759102.0x000001

PATENCY-2 trial of vonapanitase to promote radiocephalic fistula use for hemodialysis and secondary patency

Authors: Peden, Eric K., Lucas, John F., Browne, Barry J., Settle, Stephen M., Scavo, Vincent A., Bleyer, Anthony J., Ozaki, Charles Keith, Teruya, Theodore H., Wilson, Samuel E., Mishler, Rick E.

Source: Journal of vascular access. 23(2):265-274

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN629452702&indx=1&recIds=ETOCRN629452702

Genetic Etiologies for Chronic Kidney Disease Revealed through Next-Generation Renal Gene Panel

Authors: Bleyer, Anthony J., Westemeyer, Maggie, Xie, Jing, Bloom, Michelle S., Brossart, Katya, Eckel, Jason J., Jones, Frederick, Molnar, Miklos Z., Kotzker, Wayne, Anand, Prince, Kmoch, Stanislav, Xue, Yuan, Strom, Samuel, Punj, Sumit, Demko, Zachary P., Tabriziani, Hossein, Billings, Paul R., McKanna, Trudy

Source: American journal of nephrology. 53(4):297-306

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100149722196.0x000001&indx=1&recIds=ETOCvdc_100149722196.0x000001

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

Authors: 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.

Source: In Kidney International June 2022 101(6):1126-1141

Outcomes of patient self-referral for the diagnosis of several rare inherited kidney diseases

Authors: Bleyer, Anthony J., Kidd, Kendrah, Robins, Victoria, Martin, Lauren, Taylor, Abbigail, Santi, Annie, Tsoumas, Georgeanna, Hunt, Alese, Swain, Elizabeth, Abbas, Marwan, Akinbola, Ebun, Vidya, Sri, Moossavi, Shahriar, Bleyer, Anthony J., Jr., Živná, Martina, Hartmannová, Hana, Hodaňová, Kateřina, Vyleťal, Petr, Votruba, Miroslav, Harden, Maegan, Blumenstiel, Brendan, Greka, Anna, Kmoch, Stanislav

Source: In Genetics in Medicine January 2020 22(1):142-149

Safety and Efficacy of Tenapanor for Long-term Serum Phosphate Control in Maintenance Dialysis: A 52-Week Randomized Phase 3 Trial (PHREEDOM)

Authors: Block, Geoffrey A., Bleyer, Anthony J., Silva, Arnold L., Weiner, Daniel E., Lynn, Robert I., Yang, Yang, Rosenbaum, David P., Chertow, Glenn M.

Source: Kidney360. 2(10):1600-1610

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100195021921.0x000001&indx=1&recIds=ETOCvdc_100195021921.0x000001

Mitochondriopathy Manifesting as Inherited Tubulointerstitial Nephropathy Without Symptomatic Other Organ Involvement

Authors: Buglioni, Alessia, Hasadsri, Linda, Nasr, Samih H., Hogan, Marie C., Moyer, Ann M., Siddique, Khurrum, Kidd, Kendrah, Kmoch, Stanislav, Hodaňová, Kateřina, Bleyer, Anthony J., Alexander, Mariam P.

Source: Kidney international reports. 6(9):2514-2518

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100164035096.0x000001&indx=1&recIds=ETOCvdc_100164035096.0x000001

Plasma Mucin-1 (CA15-3) Levels in Autosomal Dominant Tubulointerstitial Kidney Disease due to MUC1 Mutations

Authors: Vylet'al, Petr, Kidd, Kendrah, Ainsworth, Hannah C., Springer, Drahomíra, Vrbacká, Alena, Přistoupilová, Anna, Hughey, Rebecca P., Alper, Seth L., Lennon, Niall, Harrison, Steven, Harden, Maegan, Robins, Victoria, Taylor, Abbigail, Martin, Lauren, Howard, Katrice, Bitar, Ibrahim, Langefeld, Carl D., Barešová, Veronika, Hartmannová, Hana, Hodaňová, Kateřina, Zima, Tomáš, Živná, Martina, Kmoch, Stanislav, Bleyer, Anthony J.

Source: American journal of nephrology. 52(5):378-387

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100122772715.0x000001&indx=1&recIds=ETOCvdc_100122772715.0x000001

An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes

Authors: Živná, Martina, Kidd, Kendrah, Zaidan, Mohamad, Vyleťal, Petr, Barešová, Veronika, Hodaňová, Kateřina, Sovová, Jana, Hartmannová, Hana, Votruba, Miroslav, Trešlová, Helena, Jedličková, Ivana, Sikora, Jakub, Hůlková, Helena, Robins, Victoria, Hnízda, Aleš, Živný, Jan, Papagregoriou, Gregory, Mesnard, Laurent, Beck, Bodo B., Wenzel, Andrea, Tory, Kálmán, Häeffner, Karsten, Wolf, Matthias T.F., Bleyer, Michael E., Sayer, John A., Ong, Albert C.M., Balogh, Lídia, Jakubowska, Anna, Łaszkiewicz, Agnieszka, Clissold, Rhian, Shaw-Smith, Charles, Munshi, Raj, Haws, Robert M., Izzi, Claudia, Capelli, Irene, Santostefano, Marisa, Graziano, Claudio, Scolari, Francesco, Sussman, Amy, Trachtman, Howard, Decramer, Stephane, Matignon, Marie, Grimbert, Philippe, Shoemaker, Lawrence R., Stavrou, Christoforos, Abdelwahed, Mayssa, Belghith, Neila, Sinclair, Matthew, Claes, Kathleen, Kopel, Tal, Moe, Sharon, Deltas, Constantinos, Knebelmann, Bertrand, Rampoldi, Luca, Kmoch, Stanislav, Bleyer, Anthony J.

Source: In Kidney International December 2020 98(6):1589-1604

Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations

Authors: Kidd, Kendrah, Vylet’al, Petr, Schaeffer, Céline, Olinger, Eric, Živná, Martina, Hodaňová, Kateřina, Robins, Victoria, Johnson, Emily, Taylor, Abbigail, Martin, Lauren, Izzi, Claudia, Jorge, Sofia C., Calado, Joaquim, Torres, Rosa J., Lhotta, Karl, Steubl, Dominik, Gale, Daniel P., Gast, Christine, Gombos, Eva, Ainsworth, Hannah C., Chen, Ying Maggie, Almeida, Jorge Reis, de Souza, Cintia Fernandes, Silveira, Catarina, Raposeiro, Rita, Weller, Nelson, Conlon, Peter J., Murray, Susan L., Benson, Katherine A., Cavalleri, Gianpiero L., Votruba, Miroslav, Vrbacká, Alena, Amoroso, Antonio, Gianchino, Daniela, Caridi, Gianluca, Ghiggeri, Gian Marco, Divers, Jasmin, Scolari, Francesco, Devuyst, Olivier, Rampoldi, Luca, Kmoch, Stanislav, Bleyer, Anthony J.

Source: In Kidney International Reports September 2020 5(9):1472-1485

Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1

Authors: Olinger, Eric, Hofmann, Patrick, Kidd, Kendrah, Dufour, Inès, Belge, Hendrica, Schaeffer, Céline, Kipp, Anne, Bonny, Olivier, Deltas, Constantinos, Demoulin, Nathalie, Fehr, Thomas, Fuster, Daniel G., Gale, Daniel P., Goffin, Eric, Hodaňová, Kateřina, Huynh-Do, Uyen, Kistler, Andreas, Morelle, Johann, Papagregoriou, Gregory, Pirson, Yves, Sandford, Richard, Sayer, John A., Torra, Roser, Venzin, Christina, Venzin, Reto, Vogt, Bruno, Živná, Martina, Greka, Anna, Dahan, Karin, Rampoldi, Luca, Kmoch, Stanislav, Bleyer, Anthony J., Sr., Devuyst, Olivier

Source: In Kidney International September 2020 98(3):717-731