00:00Importance of IFT140 in Patients with Polycystic Kidney Disease Without a Family History -
Takuya Fujimaru, Takayasu Mori, Akinari Sekine, Motoko Chiga, Shintaro Mandai, Hiroaki Kikuchi, Yutaro Mori, Yu Hara, Tamami Fujiki, Fumiaki Ando, Koichiro Susa, Soichiro Iimori, Shotaro Naito, Ryoichi Hanazawa, Akihiro Hirakawa, Toshio Mochizuki, Tatsuya Suwabe, Yoshifumi Ubara, Shinichi Uchida, Eisei Sohara
Kidney Int Reports
Recently, the monoallelic loss-of-function IFT140 variant was identified as a causative gene for autosomal dominant polycystic kidney disease (ADPKD). In patients with polycystic kidneys who have a positive family history, >90% have pathogenic variants in PKD1 or PKD2, whereas only 1% have (…) (Kidney International Reports (2024))
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Nucleoside diphosphate–linked moiety X-type motif 15 (NUDT15) enzyme is a member of nudix hydrolase enzyme family and inactivates nucleoside triphosphates.S1–S3 NUDT15 poor metabolizer and intermediate metabolizer phenotypes are at increased risk of adverse drug reactions to medications (…) (Kidney International Reports (2024))
00:00Anticoagulation for the prevention of thrombotic events in nephrotic syndrome -
David Massicotte-Azarniouch, Daniel J. Crona, Priscilla Karnabi, Bhadran Bose, Patrick H. Nachman, Marc Carrier, Mark Canney, David W. Johnson, Taewoo Lee, Raja Ramachandran, Vivekanand Jha, Nigel S. Key, Vimal K. Derebail
Kidney Int Reports
Nephrotic syndrome (NS) predisposes to venous thromboembolic events (VTE) with membranous nephropathy (MN) carrying the highest risk.1 Clinicians caring for NS patients must balance benefits of anticoagulation against potential harms, primarily bleeding. Management of VTE risk is complicated by (…) (Kidney International Reports (2024))