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 ResearchConceptsPositive 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
2019
Intraoperative Ultrasound Guidance for Banding of an Arteriovenous Fistula Causing High Cardiac Output Heart Failure
Turner AD, Chen M, Dahl N, Scoutt L, Dardik A, Ochoa Chaar C. Intraoperative Ultrasound Guidance for Banding of an Arteriovenous Fistula Causing High Cardiac Output Heart Failure. Annals Of Vascular Surgery 2019, 66: 665.e5-665.e8. PMID: 31863947, DOI: 10.1016/j.avsg.2019.12.011.Peer-Reviewed Case Reports and Technical NotesConceptsEnd-stage renal diseaseArteriovenous fistulaHigh cardiac output heart failureHigh cardiac output failureHigh-output cardiac failureOutput cardiac failureIntraoperative ultrasound guidanceRare complicationCardiac failureHeart failureRenal diseaseCase reportCardiac functionUltrasound guidanceIntraoperative ultrasoundFlow volumeOutput failureFistulaPatientsGradual declineFailureBandingComplicationsHemodialysisHigh flow volumesRisk 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 diseaseRevisiting racial differences in ESRD due to ADPKD in the United States
Murphy EL, Dai F, Blount KL, Droher ML, Liberti L, Crews DC, Dahl NK. Revisiting racial differences in ESRD due to ADPKD in the United States. BMC Nephrology 2019, 20: 55. PMID: 30764782, PMCID: PMC6376748, DOI: 10.1186/s12882-019-1241-1.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAge DistributionAgedAged, 80 and overBlack or African AmericanChildChild, PreschoolDiabetic NephropathiesDisease ProgressionHumansHypertensionIncidenceInfantInfant, NewbornKidney Failure, ChronicMiddle AgedPolycystic Kidney, Autosomal DominantRetrospective StudiesSocioeconomic FactorsUnited StatesWhite PeopleYoung AdultConceptsNon-Hispanic blacksNon-Hispanic whitesNon-Hispanic white patientsUS Renal Data SystemIncidence of ESRDIncident ESRDWhite patientsFive-year age categoriesRetrospective cohort studyLarge vessel diseaseAdditional risk factorsAssociation of raceDominant polycystic kidney diseaseTwo-sample proportion testsPolycystic kidney diseaseTwo-sample t-testESRD onsetCohort studyADPKD populationKidney diseaseVessel diseaseBlack raceRisk factorsESRDHaenszel test
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 determinantsCauseSemaphorin 7A in circulating regulatory T cells is increased in autosomal-dominant polycystic kidney disease and decreases with tolvaptan treatment
Lee Y, Blount KL, Dai F, Thompson S, Scher JK, Bitterman S, Droher M, Herzog EL, Moeckel G, Karihaloo A, Dahl NK. Semaphorin 7A in circulating regulatory T cells is increased in autosomal-dominant polycystic kidney disease and decreases with tolvaptan treatment. Clinical And Experimental Nephrology 2018, 22: 906-916. PMID: 29453607, DOI: 10.1007/s10157-018-1542-x.Peer-Reviewed Original ResearchConceptsPeripheral blood mononuclear cellsAutosomal dominant polycystic kidney diseaseEnd-stage renal diseaseRenal fibrosisSEMA7A expressionADPKD patientsTolvaptan treatmentPolycystic kidney diseaseKidney diseaseNumber of PBMCsExpression of SEMA7ASubsequent renal fibrosisMarkers of inflammationRegulatory T cellsADPKD kidneysBlood mononuclear cellsImmunomodulating proteinsRenal diseaseMononuclear cellsSmall kidneysKidney fibrosisLiver fibrosisRenal cystsSemaphorin 7AT cells
2016
Simple Renal Cysts as Markers of Thoracic Aortic Disease
Ziganshin BA, Theodoropoulos P, Salloum MN, Zaza KJ, Tranquilli M, Mojibian HR, Dahl NK, Fang H, Rizzo JA, Elefteriades JA. Simple Renal Cysts as Markers of Thoracic Aortic Disease. Journal Of The American Heart Association 2016, 5: e002248. PMID: 26746998, PMCID: PMC4859353, DOI: 10.1161/jaha.115.002248.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAge DistributionAgedAged, 80 and overAortic Aneurysm, ThoracicAortic DissectionAortographyConnecticutFemaleHumansKidney Diseases, CysticMagnetic Resonance AngiographyMaleMiddle AgedPrevalenceRetrospective StudiesRisk FactorsSex DistributionTomography, X-Ray ComputedYoung AdultConceptsPrevalence of SRCThoracic aortic diseaseSimple renal cystsAortic aneurysmAortic dissectionControl groupAortic diseaseRenal cystsPresence of SRCType B aortic dissectionAortic disease patientsType B dissectionAbdominal computed tomographyB aortic dissectionAbdominal aortic aneurysmMagnetic resonance imagingB dissectionMale predominanceDisease patientsSilent diseaseClinical markersComputed tomographyPatientsAneurysmsResonance imaging
2014
CT Urography for the Diagnosis of Medullary Sponge Kidney
Koraishy FM, Ngo TT, Israel GM, Dahl NK. CT Urography for the Diagnosis of Medullary Sponge Kidney. American Journal Of Nephrology 2014, 39: 165-170. PMID: 24531190, DOI: 10.1159/000358496.Peer-Reviewed Original ResearchConceptsMedullary sponge kidneyCharacteristic radiologic findingsIntravenous pyelographyCT urographySponge kidneyRadiologic findingsMultidetector CTDiagnosis of MSKRenal acidification defectsUrinary tract infectionRisk of nephrolithiasisRenal stones clinicDose reduction protocolTerminal collecting ductsConventional intravenous pyelographyRenal collecting systemTubule dilatationMedullary nephrocalcinosisStone clinicTract infectionsSymptomatic nephrolithiasisMedullary cystsBone densityAcidification defectCollecting ducts
2013
Cystic Kidney Disease in a Patient With Systemic Toxicity From Long-term d-Penicillamine Use
Koraishy FM, Cohen RA, Israel GM, Dahl NK. Cystic Kidney Disease in a Patient With Systemic Toxicity From Long-term d-Penicillamine Use. American Journal Of Kidney Diseases 2013, 62: 806-809. PMID: 23796907, DOI: 10.1053/j.ajkd.2013.04.017.Peer-Reviewed Original ResearchMeSH KeywordsChelating AgentsCystinuriaHumansKidney Diseases, CysticMaleMiddle AgedPenicillamineTime FactorsConceptsCystic kidney diseaseKidney diseaseKidney injuryD-penicillamineLong-term d-penicillamine therapyD-penicillamine therapyD-penicillamine toxicityAcute kidney injuryD-penicillamine treatmentEvidence of cystsElastosis perforans serpiginosaTreatment of cystinuriaImpaired repair processMultiorgan manifestationsSystemic manifestationsKidney functionMembranous glomerulonephritisSkin findingsGlomerular abnormalitiesRenal imagingCollagen depositionSystemic toxicityPatientsCyst formationDisease
2012
Resolution of proteinuria in a patient with focal segmental glomerulosclerosis following BiPAP initiation for obesity hypoventilation syndrome.
Hall IE, Kashgarian M, Moeckel GW, Dahl NK. Resolution of proteinuria in a patient with focal segmental glomerulosclerosis following BiPAP initiation for obesity hypoventilation syndrome. Clinical Nephrology 2012, 77: 62-5. PMID: 22185970, DOI: 10.5414/cn106859.Peer-Reviewed Original ResearchConceptsObstructive sleep apneaFocal segmental glomerulosclerosisSleep apneaSegmental glomerulosclerosisBi-level positive airway pressureSecondary focal segmental glomerulosclerosisObesity hypoventilation syndromePositive airway pressureResolution of proteinuriaPatient's proteinuriaGlomerular hyperfiltrationAirway pressureSevere obesityHypoventilation syndromeHeavy proteinuriaComplete resolutionProteinuriaGlomerulosclerosisApneaObesityPatientsTreatmentHyperfiltrationSyndrome
2011
Should Living Kidney Donor Candidates with Impaired Fasting Glucose Donate?
Vigneault CB, Asch WS, Dahl NK, Bia MJ. Should Living Kidney Donor Candidates with Impaired Fasting Glucose Donate? Clinical Journal Of The American Society Of Nephrology 2011, 6: 2054-2059. PMID: 21784837, DOI: 10.2215/cjn.03370411.BooksConceptsTransplant centersLiving donorsDonor candidatesGreater riskImpaired glucose toleranceImpaired glucose metabolismDefinition of diabetesPotential living donorsKidney donor candidatesFuture diabetesKidney transplantMetabolic syndromeGlucose toleranceKidney donorsDonor screeningTransplant guidelinesHispanic ethnicityGlucose metabolismDiabetesHispanic individualsPotential donorsIFGRiskDonorsEthnicity
2008
Thrombotic Microangiopathy and Renal Failure Exacerbated by ε-Aminocaproic Acid
Mutter WP, Stillman IE, Dahl NK. Thrombotic Microangiopathy and Renal Failure Exacerbated by ε-Aminocaproic Acid. American Journal Of Kidney Diseases 2008, 53: 346-350. PMID: 18805613, DOI: 10.1053/j.ajkd.2008.07.023.Peer-Reviewed Original Research