A multidisciplinary nephrogenetic referral clinic for children and adults-diagnostic achievements and insights.
Ben Pode-ShakkedYishay Ben-MosheOrtal BarelLilach C RegevMaayan KaganAviva EliyahuDina Marek-YagelDanit Atias-VaronEinat LahavNaomi IsslerOmer ShlomovitzRotem Semo OzNitzan KolNofar MorIfat Bar-JosephYulia KhavkinElisheva JavaskyPazit BeckermanMeidad GreenbergOded VolovelskyYael BorovitzMiriam DavidovitsOrly HaskinHadas AlfandaryShely LeviMaital KaidarZe'ev KatzirAvital Angel-KormanRachel Becker-CohenEfrat Ben-ShalomAdi LeibaEytan MorAmit DaganItai M PessachDanny LotanMoshe ShasharYair AniksterAnnick Raas-RothschildGideon RechaviBenjamin DekelAsaf VivantePublished in: Pediatric nephrology (Berlin, Germany) (2022)
We identified a substantial fraction of genetic kidney etiologies among previously undiagnosed individuals which influenced subsequent clinical management. Our results support that nephrogenetics, a rapidly evolving field, may benefit from well-defined multidisciplinary co-management administered by a designated team of nephrologist, geneticist, and bioinformatician. A higher resolution version of the Graphical abstract is available as Supplementary information.