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
2021
Examining the Role of Novel CKD Therapies for the ADPKD Patient
Patel DM, Dahl NK. Examining the Role of Novel CKD Therapies for the ADPKD Patient. Kidney360 2021, 2: 1036-1041. PMID: 35373079, PMCID: PMC8791369, DOI: 10.34067/kid.0007422020.Peer-Reviewed Original Research
2019
Risk factors and safe contrast volume thresholds for postcontrast acute kidney injury after peripheral vascular interventions
Lee SR, Zhuo H, Zhang Y, Dahl N, Dardik A, Ochoa Chaar CI. Risk factors and safe contrast volume thresholds for postcontrast acute kidney injury after peripheral vascular interventions. Journal Of Vascular Surgery 2019, 72: 603-610.e1. PMID: 31843298, DOI: 10.1016/j.jvs.2019.09.059.Peer-Reviewed Original ResearchMeSH KeywordsAcute Kidney InjuryAgedCanadaContrast MediaDatabases, FactualEndovascular ProceduresFemaleHumansIncidenceKidneyMaleMiddle AgedPatient SafetyPeripheral Arterial DiseaseRadiography, InterventionalRenal Insufficiency, ChronicRetrospective StudiesRisk AssessmentRisk FactorsTreatment OutcomeUnited StatesConceptsAdvanced chronic kidney diseaseChronic kidney diseasePeripheral vascular interventionsStages of CKDPostcontrast acute kidney injuryBaseline kidney functionPC-AKIAcute kidney injuryContrast volumeVolume of contrastRisk factorsKidney injuryCumulative incidenceLimb ischemiaKidney functionVascular interventionsMultivariable Cox proportional hazards regressionCox proportional hazards regressionAcute limb ischemiaLong-term mortalityCritical limb ischemiaNormal kidney functionMultivariable logistic regressionProportional hazards regressionLong-term survivalInherited glomerular diseases in the gilded age of genomic advancements
Gulati A, Dahl N, Tufro A. Inherited glomerular diseases in the gilded age of genomic advancements. Pediatric Nephrology 2019, 35: 959-968. PMID: 31049720, PMCID: PMC7184048, DOI: 10.1007/s00467-019-04266-y.Peer-Reviewed Original ResearchConceptsGenomic advancementsHigh-throughput next-generation sequencing technologiesNext-generation sequencing technologiesSingle nucleotide changeSingle nucleotide variationsDisease-causing mutationsDNA variationHuman genomeNext-generation sequencingGenomic informationSequencing technologiesNucleotide variationsAccurate genetic diagnosisNucleotide changesGenetic diagnosisSmall insertionsGenomic knowledgeCytogenetic methodsBiological interpretationMutation spectrumSequencingGenomic medicineGenomeUncertain significanceGlomerular diseaseIn Reply to ‘TREX1 Mutation Causing Autosomal Dominant Thrombotic Microangiopathy and CKD Is in Fact a Case of RVCL-S Presenting With Renal Features’
Gulati A, Dahl N. In Reply to ‘TREX1 Mutation Causing Autosomal Dominant Thrombotic Microangiopathy and CKD Is in Fact a Case of RVCL-S Presenting With Renal Features’. American Journal Of Kidney Diseases 2019, 73: 893-894. PMID: 30846257, DOI: 10.1053/j.ajkd.2019.01.014.Peer-Reviewed Original Research
2018
TREX1 Mutation Causing Autosomal Dominant Thrombotic Microangiopathy and CKD—A Novel Presentation
Gulati A, Bale AE, Dykas DJ, Bia MJ, Danovitch GM, Moeckel GW, Somlo S, Dahl NK. TREX1 Mutation Causing Autosomal Dominant Thrombotic Microangiopathy and CKD—A Novel Presentation. American Journal Of Kidney Diseases 2018, 72: 895-899. PMID: 29941221, DOI: 10.1053/j.ajkd.2018.05.006.Peer-Reviewed Original ResearchConceptsRenal thrombotic microangiopathyThrombotic microangiopathyTREX1 mutationsRetinal microangiopathyChronic kidney diseaseRepair exonuclease 1Whole-exome sequencingSignificant brainSymptomatic brainTREX1 variantsKidney involvementClinical presentationKidney diseaseCerebral leukodystrophyComplement dysregulationMicroangiopathyClinical importanceDiverse causesComplement regulationNovel presentationSubstantial proportionBrainSignificant proportionGenetic determinantsCause