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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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7. Urinary epidermal growth factor/monocyte chemotactic peptide 1 ratio as non-invasive predictor of Mayo clinic imaging classes in autosomal dominant polycystic kidney disease

Author

Rocchetti, Maria Teresa, Pesce, Francesco, Matino, Silvia, Piscopo, Giovanni, di Bari, Ighli, Trepiccione, Francesco, Capolongo, Giovanna, Perniola, Maria Antonietta, Song, Xuewen, Khowaja, Saima, Haghighi, Amirreza, Peters, Dorien, Paolicelli, Simona, Pontrelli, Paola, Netti, Giuseppe Stefano, Ranieri, Elena, Capasso, Giovambattista, Moschetta, Marco, Pei, York, and Gesualdo, Loreto

Published
2022
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9. 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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12. 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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21. ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption

Author

Ashraf, Shazia, Gee, Heon Yung, Woerner, Stephanie, Xie, Letian X, Vega-Warner, Virginia, Lovric, Svjetlana, Fang, Humphrey, Song, Xuewen, Cattran, Daniel C, Avila-Casado, Carmen, Paterson, Andrew D, Nitschké, Patrick, Bole-Feysot, Christine, Cochat, Pierre, Esteve-Rudd, Julian, Haberberger, Birgit, Allen, Susan J, Zhou, Weibin, Airik, Rannar, Otto, Edgar A, Barua, Moumita, Al-Hamed, Mohamed H, Kari, Jameela A, Evans, Jonathan, Bierzynska, Agnieszka, Saleem, Moin A, Böckenhauer, Detlef, Kleta, Robert, Desoky, Sherif El, Hacihamdioglu, Duygu O, Gok, Faysal, Washburn, Joseph, Wiggins, Roger C, Choi, Murim, Lifton, Richard P, Levy, Shawn, Han, Zhe, Salviati, Leonardo, Prokisch, Holger, Williams, David S, Pollak, Martin, Clarke, Catherine F, Pei, York, Antignac, Corinne, and Hildebrandt, Friedhelm

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Genetics, Clinical Research, Complementary and Integrative Health, Aetiology, 2.1 Biological and endogenous factors, Renal and urogenital, Adolescent, Adrenal Cortex Hormones, Amino Acid Sequence, Animals, Cells, Cultured, Child, Consanguinity, Conserved Sequence, DNA Mutational Analysis, Disease Models, Animal, Drosophila Proteins, Drug Resistance, Exome, Fibroblasts, Gene Knockdown Techniques, Humans, Mitochondria, Molecular Sequence Data, Mutation, Nephrotic Syndrome, Podocytes, Protein Kinases, Rats, Sequence Alignment, Sequence Homology, Amino Acid, Ubiquinone, Young Adult, Zebrafish, Zebrafish Proteins, Medical and Health Sciences, Immunology, Biological sciences, Biomedical and clinical sciences, Health sciences
Abstract

Identification of single-gene causes of steroid-resistant nephrotic syndrome (SRNS) has furthered the understanding of the pathogenesis of this disease. Here, using a combination of homozygosity mapping and whole human exome resequencing, we identified mutations in the aarF domain containing kinase 4 (ADCK4) gene in 15 individuals with SRNS from 8 unrelated families. ADCK4 was highly similar to ADCK3, which has been shown to participate in coenzyme Q10 (CoQ10) biosynthesis. Mutations in ADCK4 resulted in reduced CoQ10 levels and reduced mitochondrial respiratory enzyme activity in cells isolated from individuals with SRNS and transformed lymphoblasts. Knockdown of adck4 in zebrafish and Drosophila recapitulated nephrotic syndrome-associated phenotypes. Furthermore, ADCK4 was expressed in glomerular podocytes and partially localized to podocyte mitochondria and foot processes in rat kidneys and cultured human podocytes. In human podocytes, ADCK4 interacted with members of the CoQ10 biosynthesis pathway, including COQ6, which has been linked with SRNS and COQ7. Knockdown of ADCK4 in podocytes resulted in decreased migration, which was reversed by CoQ10 addition. Interestingly, a patient with SRNS with a homozygous ADCK4 frameshift mutation had partial remission following CoQ10 treatment. These data indicate that individuals with SRNS with mutations in ADCK4 or other genes that participate in CoQ10 biosynthesis may be treatable with CoQ10.

Published
2013

22. PKHD1 Protein Encoded by the Gene for Autosomal Recessive Polycystic Kidney Disease Associates with Basal Bodies and Primary Cilia in Renal Epithelial Cells

Author

Zhang, Ming-Zhi, Mai, Weiyi, Li, Cunxi, Cho, Sae-youll, Hao, Chuanming, Moeckel, Gilbert, Zhao, Runxiang, Kim, Ingyu, Wang, Jikui, Xiong, Huaqi, Wang, Hong, Sato, Yasunori, Wu, Yizhong, Nakanuma, Yasuni, Lilova, Marusia, Pei, York, Harris, Raymond C., Li, Song, Coffey, Robert J., Sun, Le, Wu, Dianqing, Chen, Xing-Zhen, Breyer, Matthew D., Zhao, Zhizhuang Joe, McKanna, James A., Wu, Guanqing, and Cohen, Stanley

Published
2004

26. Venglustat, a Novel Glucosylceramide Synthase Inhibitor, in Patients at Risk of Rapidly Progressing ADPKD: Primary Results of a Double-Blind, Placebo-Controlled, Phase 2/3 Randomized Clinical Trial

Author

Gansevoort, Ronald T., primary, Hariri, Ali, additional, Minini, Pascal, additional, Ahn, Curie, additional, Chapman, Arlene B., additional, Horie, Shigeo, additional, Knebelmann, Bertrand, additional, Mrug, Michal, additional, Ong, Albert C.M., additional, Pei, York P.C., additional, Torres, Vicente E., additional, Modur, Vijay, additional, Antonshchuk, Igor, additional, and Perrone, Ronald D., additional

Published
2023
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27. Total Kidney Volume Measurements in ADPKD by 3D and Ellipsoid Ultrasound in Comparison with Magnetic Resonance Imaging

Author

Pedram Akbari, Fatemah Nasri, Shirley X. Deng, Saima Khowaja, Seung H. Lee, William Warnica, Hua Lu, Anand Rattansingh, Mostafa Atri, Korosh Khalili, and Pei York

Subjects
Transplantation, Nephrology, Epidemiology, fungi, Humans, Original Article, Prospective Studies, sense organs, Kidney, Polycystic Kidney, Autosomal Dominant, Critical Care and Intensive Care Medicine, Magnetic Resonance Imaging, Ultrasonography
Abstract

BACKGROUND AND OBJECTIVES: Total kidney volume is a validated prognostic biomarker for autosomal dominant polycystic kidney disease. Total kidney volume by magnetic resonance imaging (MRI) and manual segmentation is considered the “reference standard,” but it is time consuming and not readily accessible. By contrast, three-dimensional (3D) ultrasound provides a promising technology for total kidney volume measurements with unknown potential. Here, we report a comparative study of total kidney volume measurements by 3D ultrasound versus the conventional methods by ultrasound ellipsoid and MRI ellipsoid. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: This single-center prospective study included 142 patients who completed a standardized 3D ultrasound and MRI. Total kidney volumes by 3D ultrasound and ultrasound ellipsoid were compared with those by MRI. We assessed the agreement of total kidney volume measurements by Bland–Altman plots and misclassification of the Mayo Clinic imaging classes between the different imaging methods, and we assessed prediction of Mayo Clinic imaging classes 1C–1E by average ultrasound kidney length >16.5 cm. RESULTS: Compared with MRI manual segmentation, MRI ellipsoid, 3D ultrasound, and ultrasound ellipsoid underestimated total kidney volume (mean difference: −3%, −9%, and −11%, respectively), with Mayo Clinic imaging classes misclassified in 11%, 21%, and 22% of patients, respectively; most misclassified cases by MRI ellipsoid (11 of 16), 3D ultrasound (23 of 30), and ultrasound ellipsoid (26 of 31) were placed into a lower Mayo Clinic imaging class. Predictions of the high-risk Mayo Clinic imaging classes (1C–1E) by MRI ellipsoid, 3D ultrasound, and ultrasound ellipsoid all yielded high positive predictive value (96%, 95%, and 98%, respectively) and specificity (96%, 96%, and 99%, respectively). However, both negative predictive value (90%, 88%, and 95%, respectively) and sensitivity (88%, 85%, and 94%, respectively) were lower for 3D ultrasound and ultrasound ellipsoid compared with MRI ellipsoid. An average ultrasound kidney length >16.5 cm was highly predictive of Mayo Clinic imaging classes 1C–1E only in patients aged ≤45 years. CONCLUSIONS: Total kidney volume measurements in autosomal dominant polycystic kidney disease by 3D ultrasound and ultrasound ellipsoid displayed similar bias and variability and are less accurate than MRI ellipsoid. Prediction of high-risk Mayo Clinic imaging classes (1C–1E) by all three methods provides high positive predictive value, but ultrasound ellipsoid is simpler to use and more readily available.

Published
2022
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33. Isolated polycystic liver disease genes define effectors of polycystin-1 function

Author

Besse, Whitney, Dong, Ke, Choi, Jungmin, Punia, Sohan, Fedeies, Sorin V., Choi, Murim, Gallagher, Anna-Rachel, Huang, Emily B., Gulati, Ashima, Knigh, James, Mane, Shrikant, Tahvanainen, Esa, Tahvanainen, Pia, Sanna-Cherchi, Simone, Lifton, Richard P., Watnick, Terry, Pei, York P., Torres, Vicente E., and Somlo, Stefan

Subjects
Exome sequencing -- Usage, Liver diseases -- Genetic aspects -- Research, Gene mutation -- Research, Health care industry
Abstract

Dominantly inherited isolated polycystic liver disease (PCLD) consists of liver cysts that are radiologically and pathologically identical to those seen in autosomal dominant polycystic kidney disease, but without clinically relevant kidney cysts. The causative genes are known for fewer than 40% of PCLD index cases. Here, we have used whole exome sequencing in a discovery cohort of 102 unrelated patients who were excluded for mutations in the 2 most common PCLD genes, PRKCSH and SEC63, to identify heterozygous loss-of-function mutations in 3 additional genes, ALC8, CANAB, and SEC61B. Similarly to PRKCSH and SEC63, these genes encode proteins that are integral to the protein biogenesis pathway in the endoplasmic reticulum. We inactivated these candidate genes in cell line models to show that loss of function of each results in defective maturation and trafficking of polycystin-1, the central determinant of cyst pathogenesis. Despite acting in a common pathway, each PCLD gene product demonstrated distinct effects on polycystin-1 biogenesis. We also found enrichment on a genome-wide basis of heterozygous mutations in the autosomal recessive polycystic kidney disease gene PKHD1, indicating that adult PKHD1 carriers can present with clinical PCLD. These findings define genetic and biochemical modulators of polycystin-1 function and provide a more complete definition of the spectrum of dominant human polycystic diseases., Introduction Isolated polycystic liver disease (PCLD; also called ADPLD) presents in adult life with radiologically and pathologically identical liver cysts to those seen in autosomal dominant polycystic kidney disease (ADPKD), [...]

Published
2017
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36. 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

38. Polycystic Kidney Disease without an Apparent Family History

Author

Iliuta, Ioan-Andrei, Kalatharan, Vinusha, Wang, Kairong, Cornec-Le Gall, Emilie, Conklin, John, Pourafkari, Marina, Ting, Ryan, Chen, Chen, Borgo, Alessia C., He, Ning, Song, Xuewen, Heyer, Christina M., Senum, Sarah R., Hwang, Young-Hwan, Paterson, Andrew D., Harris, Peter C., Khalili, Korosh, and Pei, York

Published
2017
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39. 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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40. Urinary epidermal growth factor/monocyte chemotactic peptide 1 ratio as non-invasive predictor of Mayo clinic imaging classes in autosomal dominant polycystic kidney disease.

Author

Rocchetti, Maria Teresa, Pesce, Francesco, Matino, Silvia, Piscopo, Giovanni, di Bari, Ighli, Trepiccione, Francesco, Capolongo, Giovanna, Perniola, Maria Antonietta, Song, Xuewen, Khowaja, Saima, Haghighi, Amirreza, Peters, Dorien, Paolicelli, Simona, Pontrelli, Paola, Netti, Giuseppe Stefano, Ranieri, Elena, Capasso, Giovambattista, Moschetta, Marco, Pei, York, and Gesualdo, Loreto

Published
2023
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42. Atypical Polycystic Kidney Disease by Imaging

Author

Pei, York, primary, Iliuta, Ioan-Andrei, additional, Win, Aung Zaw, additional, Lanktree, Matthew B., additional, Lee, Seung Heyck, additional, Pourafkari, Marina, additional, Nasri, Fatemeh, additional, Guiard, Elsa, additional, Haghighi, Amirreza, additional, He, Ning, additional, Ingram, Alistair, additional, Quist, Crystal, additional, Hillier, David, additional, and Khalili, Korosh, additional

Published
2022
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49. 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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50. Defective glucose metabolism in polycystic kidney disease identifies a new therapeutic strategy

Author

Rowe, Isaline, Chiaravalli, Marco, Mannella, Valeria, Ulisse, Valeria, Quilici, Giacomo, Pema, Monika, Song, Xuewen W., Xu, Hangxue, Mari, Silvia, Qian, Feng, Pei, York, Musco, Giovanna, and Boletta, Alessandra

Subjects
Glucose metabolism -- Health aspects -- Research -- Analysis, Polycystic kidney disease -- Health aspects -- Research -- Analysis -- Care and treatment, Biological sciences, Health
Abstract

Autosomal dominant polycystic kidney disease (ADPKD) is a common genetic disorder characterized by bilateral renal cyst formation (1). Recent identification of signaling cascades deregulated in ADPKD has led to the initiation of several clinical trials, but an approved therapy is still lacking (2), (3). Using a metabolomic approach, we identify a pathogenic pathway in this disease that can be safely targeted for therapy. We show that mutation of PKD1 results in enhanced glycolysis in cells in a mouse model of PKD and in kidneys from humans with ADPKD. Glucose deprivation resulted in lower proliferation and higher apoptotic rates in PKD1-mutant cells than in nondeprived cells. Notably, two distinct PKD mouse models treated with 2-deoxyglucose (2DG), to inhibit glycolysis, had lower kidney weight, volume, cystic index and proliferation rates as compared to nontreated mice. These metabolic alterations depend on the extracellular signal-related kinase (ERK) pathway acting in a dual manner by inhibiting the liver kinase B1 (LKB1)-AMP-activated protein kinase (AMPK) axis on the one hand while activating the mTOR complex 1 (mTORC1)-glycolytic cascade on the other. Enhanced metabolic rates further inhibit AMPK. Forced activation of AMPK acts in a negative feedback loop, restoring normal ERK activity. Taken together, these data indicate that defective glucose metabolism is intimately involved in the pathobiology of ADPKD. Our findings provide a strong rationale for a new therapeutic strategy using existing drugs, either individually or in combination., ADPKD is a chronic progressive disease (1). Cysts originate from any segment of the renal tubule in only 1-5% of the nephrons, a condition that should be compatible with a [...]

Published
2013
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