2024
Clinical Genetic Testing in Nephrology: Core Curriculum 2024
Aron A, Dahl N. Clinical Genetic Testing in Nephrology: Core Curriculum 2024. American Journal Of Kidney Diseases 2024, 84: 632-645. PMID: 39340488, DOI: 10.1053/j.ajkd.2024.05.011.Peer-Reviewed Original ResearchClinical genetic testingGenetic testingRoutine diagnostic workup of patientsKidney diseaseDiagnostic workup of patientsDiagnostic yield of testingRoutine diagnostic workupWorkup of patientsRoutine nephrology careYield of testingGenetic resultsImprove careCore curriculumReduce barriersDiagnostic odysseyExtrarenal manifestationsDiagnostic yieldMonogenic etiologyPatient selectionReduce anxietyPatient populationNephrology careTreatment planningFamily planningSecondary findings
2022
Design and Basic Characteristics of a National Patient-Powered Registry in ADPKD
Hoover E, Perrone RD, Rusconi C, Benson B, Dahl NK, Gitomer B, Manelli A, Mrug M, Park M, Seliger SL, Phadnis MA, Thewarapperuma N, Watnick TJ. Design and Basic Characteristics of a National Patient-Powered Registry in ADPKD. Kidney360 2022, 3: 1350-1358. PMID: 36176661, PMCID: PMC9416821, DOI: 10.34067/kid.0002372022.Peer-Reviewed Original ResearchConceptsAutosomal dominant polycystic kidney diseaseKidney diseaseCore questionnaireManagement of ADPKDPatient-reported diagnosisPost-kidney transplantHealth-related qualityPatient-centered outcomesDominant polycystic kidney diseaseQuality of lifePolycystic kidney diseaseHispanics/LatinosCKD stageKidney transplantMedian ageKidney functionNational PatientBurden scoreDisease stageExtrarenal manifestationsPatient enrollmentADPKD patientsCreatinine valuesClinical trialsClinical studiesGenetic Diseases Associated with Tubulointerstitial Nephritis
Wolf M, Besse W, Bleyer A, Dahl N. Genetic Diseases Associated with Tubulointerstitial Nephritis. 2022, 139-160. DOI: 10.1007/978-3-030-93438-5_11.ChaptersAutosomal dominant tubulointerstitial kidney diseaseTubulointerstitial kidney diseaseKidney diseaseExtrarenal manifestationsProgressive chronic kidney diseaseBland urinary sedimentChronic kidney diseaseNormal-sized kidneysMedullary cystic diseaseImmunosuppressive therapyKidney transplantationTubulointerstitial nephritisChronic inflammationCystic diseaseFamily historyUrinary sedimentEarly diagnosisHyperuricemic nephropathyClinical descriptionDiseaseSize kidneysGenetic formsDiagnosisInappropriate useOverlapping features