Dina F Ahram, Tze Y Lim, Juntao Ke, Gina Jin, Miguel Verbitsky, Monica Bodria, Byum Hee Kil, Debanjana Chatterjee, Stacy E Piva, Maddalena Marasa, Jun Y Zhang, Enrico Cocchi, Gianluca Caridi, Zoran Gucev, Vladimir J Lozanovski, Isabella Pisani, Claudia Izzi, Gianfranco Savoldi, Barbara Gnutti, Valentina P Capone, William Morello, Stefano Guarino, Pasquale Esposito, Sarah Lambert, Jai Radhakrishnan, Gerald B Appel, Natalie S Uy, Maya K Rao, Pietro A Canetta, Andrew S Bomback, Jordan G Nestor, Thomas Hays, David J Cohen, Carolina Finale Na, Joanna A E van Wijk, Claudio La Scola, Olga Baraldi, Francesco Tondolo, Dacia Di Renzo, Anna Jamry-Dziurla, Alessandro Pezzutto, Valeria Manca, Adele Mitrotti, Domenico Santoro, Giovanni Conti, Marida Martino, Mario Giordano, Loreto Gesualdo, Lada Zibar, Giuseppe Masnata, Mario Bonomini, Daniele Alberti, Gaetano La Manna, Yasar Caliskan, Andrea Ranghino, Pierluigi Marzuillo, Krzysztof Kiryluk, Grażyna Krzemień, Monika Miklaszewska, Fangming Lin, Giovanni Montini, Francesco Scolari, Enrico Fiaccadori, Adela Arapović, Marijan Saraga, James McKiernan, Shumyle Alam, Marcin Zaniew, Maria Szczepańska, Agnieszka Szmigielska, Przemysław Sikora, Dorota Drożdż, Malgorzata Mizerska-Wasiak, Shrikant Mane, Richard P Lifton, Velibor Tasic, Anna Latos-Bielenska, Ali G Gharavi, Gian Marco Ghiggeri, Anna Materna-Kiryluk, Rik Westland, Simone Sanna-Cherchi
BACKGROUND: Congenital obstructive uropathy (COU) is a common cause of developmental defects of the urinary tract, with heterogeneous clinical presentation and outcome. Genetic analysis has the potential to elucidate the underlying diagnosis and help risk stratification. METHODS: We performed a comprehensive genomic screen of 733 independent COU cases, which consisted of individuals with ureteropelvic junction obstruction (UPJO; n=321), ureterovesical junction obstruction/congenital megaureter (UVJO; n=178), and congenital hydronephrosis not otherwise specified (COU-NOS; n=234)...
March 30, 2023: Journal of the American Society of Nephrology: JASN