{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["7(9)"],"submitter":["Konig JC"],"pubmed_abstract":["<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/TMEM"],"journal":["Kidney international reports"],"pagination":["2016-2028"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9459005"],"repository":["biostudies-literature"],"pubmed_title":["Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis."],"pmcid":["PMC9459005"],"pubmed_authors":["Pohl M","Liebau MC","Storf H","Habbig S","Bertholet-Thomas A","Cetiner M","Dahmer-Heath M","Bockenhauer D","Antczak P","Gimpel C","Karsay R","Haffner D","Thumfart J","Konig JC","Okorn C","Ariceta G","Schlingmann KP","Nittel C","Konrad M","Bald M","Bergmann C","Konig J","Schafer F","Schanstra JP","Klopp N","Gobel J","Schermer B","Tonshoff B","Gillion V","Hoefele J","Pennekamp P","Omran H","Decramer S","Illig T","Kollmann S","Boyer O","Mastrangelo A","NEOCYST consortium","Ziegler W","Vasseur J","Telgmann AK","Schild R","Birtel J","Schlevogt B","Wohlgemuth K","Kamp-Becker I","Weber S","Lilien M","Drube J","Gerß J","Pape L","Hansen M"],"additional_accession":[]},"is_claimable":false,"name":"Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis.","description":"<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/TMEM","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Sep","modification":"2025-04-20T00:41:48.215Z","creation":"2025-04-20T00:41:48.215Z"},"accession":"S-EPMC9459005","cross_references":{"pubmed":["36090483"],"doi":["10.1016/j.ekir.2022.05.035"]}}