2023
The Clinical Utility of Genetic Testing in the Diagnosis and Management of Adults with Chronic Kidney Disease
Dahl N, Bloom M, Chebib F, Clark D, Westemeyer M, Jandeska S, Zhang Z, Milo-Rasouly H, Kolupaeva V, Marasa M, Broumand V, Fatica R, Raj D, Demko Z, Marshall K, Punj S, Tabriziani H, Bhorade S, Gharavi A. The Clinical Utility of Genetic Testing in the Diagnosis and Management of Adults with Chronic Kidney Disease. Journal Of The American Society Of Nephrology 2023, 34: 2039-2050. PMID: 37794564, PMCID: PMC10703084, DOI: 10.1681/asn.0000000000000249.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAgedAged, 80 and overGenetic TestingHumansMiddle AgedProspective StudiesRenal Insufficiency, ChronicYoung AdultConceptsPositive genetic findingsCKD diagnosisGenetic testingGenetic findingsClinical managementCLINICAL TRIAL REGISTRY NAMEUnderlying causeGene panelTRIAL REGISTRY NAMEChronic kidney diseaseManagement of adultsAppropriate treatment strategyClinical care paradigmsPatient's medical historyClinical applicationAcademic medical centerClinical disease categoriesAdult patientsREGISTRY NAMEPrior diagnosisKidney diseaseMulticenter studyMedical historyTreatment strategiesMedical Center
2022
A Practical Guide to Genetic Testing for Kidney Disorders of Unknown Etiology
Aron AW, Dahl NK, Besse W. A Practical Guide to Genetic Testing for Kidney Disorders of Unknown Etiology. Kidney360 2022, 3: 1640-1651. PMID: 36245662, PMCID: PMC9528385, DOI: 10.34067/kid.0007552021.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsClinical genetic testingGenetic testingIdentification of pathogenic variantsLimitations of genetic testingKidney-related disordersOut-of-pocket costsRisks of testingVariant nomenclatureProvider educationPathogenic variantsGene panelPatient's desireDiagnosis of kidney diseaseProvidersFollow-up investigationKidney diseaseDiagnostic utilityDiagnostic limitationsKidney disordersValuable diagnostic toolUnknown etiologyGenetic risk allelesUndetermined causeGuide managementDiagnosis
2020
Clinical Applications of Genetic Discoveries in Kidney Transplantation: a Review.
Marin EP, Cohen E, Dahl N. Clinical Applications of Genetic Discoveries in Kidney Transplantation: a Review. Kidney360 2020, 1: 300-305. PMID: 35372915, PMCID: PMC8809267, DOI: 10.34067/kid.0000312019.Peer-Reviewed Original Research
2018
Preimplantation Genetic Diagnosis Counseling in Autosomal Dominant Polycystic Kidney Disease
Murphy EL, Droher ML, DiMaio MS, Dahl NK. Preimplantation Genetic Diagnosis Counseling in Autosomal Dominant Polycystic Kidney Disease. American Journal Of Kidney Diseases 2018, 72: 866-872. PMID: 29606500, DOI: 10.1053/j.ajkd.2018.01.048.Peer-Reviewed Original ResearchConceptsEnd-stage renal diseaseAutosomal dominant polycystic kidney diseaseDominant polycystic kidney diseaseKidney diseasePolycystic kidney diseasePreimplantation genetic diagnosisDisease burdenHeight-adjusted total kidney volumeChronic kidney diseaseSignificant disease burdenAge 35 yearsTotal kidney volumeCommon hereditary formAssisted Reproductive TechnologyFluid-filled cystsRenal diseaseHepatic cystsKidney volumeFamily historyHigh riskHereditary formsIntracranial aneurysmsGenetic testingEarly onsetUrologic events
2013
Extra-renal manifestations of autosomal dominant polycystic kidney disease (ADPKD): considerations for routine screening and management
Luciano RL, Dahl NK. Extra-renal manifestations of autosomal dominant polycystic kidney disease (ADPKD): considerations for routine screening and management. Nephrology Dialysis Transplantation 2013, 29: 247-254. PMID: 24215018, DOI: 10.1093/ndt/gft437.Peer-Reviewed Educational MaterialsConceptsAutosomal dominant polycystic kidney diseaseEnd-stage renal diseaseChronic kidney diseaseExtra-renal manifestationsKidney diseasePolycystic kidney diseaseDisease burdenRenal cystsBilateral renal cystsCurrent screening recommendationsDominant polycystic kidney diseaseExtra-renal diseaseDiverticular diseaseRenal diseaseScreening recommendationsSystemic diseaseADPKD patientsRoutine screeningMale infertilityDiseaseProgressive increasePatientsCystsManifestationsBurden