biostudies-literatureUnknown7(9)Konig JC<h4>Introduction</h4>Nephronophthisis (NPH) comprises a group of rare disorders accounting for up to 10% of end-stage kidney disease (ESKD) in children. Prediction of kidney prognosis poses a major challenge. We assessed differences in kidney survival, impact of variant type, and the association of clinical characteristics with declining kidney function.<h4>Methods</h4>Data was obtained from 3 independent sources, namely the network for early onset cystic kidney diseases clinical registry (<i>n =</i> 105), an online survey sent out to the European Reference Network for Rare Kidney Diseases (<i>n =</i> 60), and a literature search (<i>n =</i> 218).<h4>Results</h4>A total of 383 individuals were available for analysis: 116 <i>NPHP1</i>, 101 <i>NPHP3</i>, 81 <i>NPHP4</i> and 85 <i>NPHP11/TMEMKidney international reports2016-2028https://www.ebi.ac.uk/biostudies/studies/S-EPMC9459005biostudies-literatureRefining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis.PMC9459005Pohl MLiebau MCStorf HHabbig SBertholet-Thomas ACetiner MDahmer-Heath MBockenhauer DAntczak PGimpel CKarsay RHaffner DThumfart JKonig JCOkorn CAriceta GSchlingmann KPNittel CKonrad MBald MBergmann CKonig JSchafer FSchanstra JPKlopp NGobel JSchermer BTonshoff BGillion VHoefele JPennekamp POmran HDecramer SIllig TKollmann SBoyer OMastrangelo ANEOCYST consortiumZiegler WVasseur JTelgmann AKSchild RBirtel JSchlevogt BWohlgemuth KKamp-Becker IWeber SLilien MDrube JGerß JPape LHansen MfalseRefining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis.<h4>Introduction</h4>Nephronophthisis (NPH) comprises a group of rare disorders accounting for up to 10% of end-stage kidney disease (ESKD) in children. Prediction of kidney prognosis poses a major challenge. We assessed differences in kidney survival, impact of variant type, and the association of clinical characteristics with declining kidney function.<h4>Methods</h4>Data was obtained from 3 independent sources, namely the network for early onset cystic kidney diseases clinical registry (<i>n =</i> 105), an online survey sent out to the European Reference Network for Rare Kidney Diseases (<i>n =</i> 60), and a literature search (<i>n =</i> 218).<h4>Results</h4>A total of 383 individuals were available for analysis: 116 <i>NPHP1</i>, 101 <i>NPHP3</i>, 81 <i>NPHP4</i> and 85 <i>NPHP11/TMEM2022-01-01T00:00:00Z2022 Sep2025-04-20T00:41:48.215Z2025-04-20T00:41:48.215ZS-EPMC94590053609048310.1016/j.ekir.2022.05.035