2024
Autosomal Dominant Polycystic Kidney Disease
Suarez M, Titan S, Dahl N. Autosomal Dominant Polycystic Kidney Disease. Advances In Kidney Disease And Health 2024, 31: 496-503. PMID: 39577883, DOI: 10.1053/j.akdh.2024.07.003.Peer-Reviewed Original ResearchConceptsAutosomal dominant polycystic kidney diseaseDelivery of personalized treatmentKidney diseaseKidney failureMinority of patientsDominant polycystic kidney diseaseEnd-stage kidney diseaseRisk of kidney failureCause of end-stage kidney diseasePolycystic kidney diseaseBlood pressure managementMassive hepatomegalySevere complicationsPolycystic liverIntracranial aneurysmsPersonalized treatmentNatural historyOrgan systemsDiseaseTreatmentKidneyPressure managementLiverSystem conditionsPreimplantationClinical 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 findingsProtein Intake and High Uric Acid Stone Risk
Montgomery T, Nair H, Phadke M, Morhardt E, Ludvigson A, Motamedinia P, Singh D, Dahl N. Protein Intake and High Uric Acid Stone Risk. Kidney Medicine 2024, 6: 100878. PMID: 39279882, PMCID: PMC11399574, DOI: 10.1016/j.xkme.2024.100878.Peer-Reviewed Original ResearchUric acid stone formersKidney stone formersUric acid stone formationStone formersChronic kidney diseaseStone analysisProtein intakeRetrospective studyKidney functionKidney diseaseAssociated with protein intakeUric acidStone formationLow urine citrateDietary protein intakeDiminished kidney functionProtein catabolic rateBody mass indexUrine urea nitrogenUric acid nephrolithiasisChi-square testPrevalence of uric acid nephrolithiasisUrine citrateNephrology clinicMass indexAdvancing Genetic Testing in Kidney Diseases: Report From a National Kidney Foundation Working Group
Franceschini N, Feldman D, Berg J, Besse W, Chang A, Dahl N, Gbadegesin R, Pollak M, Rasouly H, Smith R, Winkler C, Gharavi A, Group N, Ars E, Bekheirnia M, Bier L, Bleyer A, Fuller L, Halbritter J, Harris P, Kiryluk K, Knoers N, Kopp J, Kramer H, Lagas S, Lieske J, Lu W, Mannon R, Markowitz G, Moe O, Nadkarni G, Nast C, Parekh R, Pei Y, Reed K, Rehm H, Richards D, Roberts M, Sabatello M, Salant D, Sampson M, Sanna-Cherchi S, Santoriello D, Sedor J, Sneddon T, Watnick T, Wilfond B, Williams W, Wong C. Advancing Genetic Testing in Kidney Diseases: Report From a National Kidney Foundation Working Group. American Journal Of Kidney Diseases 2024, 84: 751-766. PMID: 39033956, PMCID: PMC11585423, DOI: 10.1053/j.ajkd.2024.05.010.Peer-Reviewed Original ResearchGenetic testingAllied health professionalsImplementation of genetic testingModified Delphi processChronic kidney diseaseScreening of kidney diseasesHealth professionalsWorking GroupKidney diseaseGenetic risk factorsDelphi processWorking group of expertsNational Kidney FoundationPolygenic causeDisease of multiple causesClinical decisionsRisk factorsGroup of expertsCause of kidney diseaseKidney FoundationGenetic basisMultiple causesGroup consensusGenetic causeMonogenic disordersBiomarkers of Kidney Disease Progression in ADPKD
Ghanem A, Borghol A, Debeh F, Paul S, AlKhatib B, Harris P, Garimella P, Hanna C, Kline T, Dahl N, Chebib F. Biomarkers of Kidney Disease Progression in ADPKD. Kidney International Reports 2024, 9: 2860-2882. PMID: 39435347, PMCID: PMC11492289, DOI: 10.1016/j.ekir.2024.07.012.Peer-Reviewed Original ResearchAutosomal dominant polycystic kidney diseaseDominant polycystic kidney diseaseKidney disease progressionPolycystic kidney diseaseDisease progressionMonogenic kidney disorderKidney diseaseHeight-adjusted total kidney volumeDisease severityTotal kidney volumePKD1 geneGlomerular filtration rateMayo imaging classificationBody mass indexPersonalized treatment strategiesIncreased kidney sizePathogenic variantsEfficacy of treatmentAssess disease severityTotal cyst volumeGenetic profileImprove patient outcomesPredictive biomarkersCyst volumeKidney volumeKidney Stones Account for Increased Imaging Studies in Autosomal Dominant Polycystic Kidney Disease
Simmons K, Ullman L, Dahl N. Kidney Stones Account for Increased Imaging Studies in Autosomal Dominant Polycystic Kidney Disease. Kidney360 2024, 5: 707-714. PMID: 38526140, PMCID: PMC11146651, DOI: 10.34067/kid.0000000000000424.Peer-Reviewed Original ResearchAbdominal imaging studiesChronic kidney diseaseADPKD patientsImaging studiesKidney stonesChronic kidney disease controlKidney diseaseChronic kidney disease groupIncreased incidence of kidney stonesChronic kidney disease populationChronic kidney disease stagePreserved renal functionRetrospectively reviewed patientsAutosomal dominant polycystic kidney diseaseIncidence of kidney stonesDominant polycystic kidney diseaseChi-square and t-testsCoronary artery diseasePolycystic kidney diseaseCompared to controlsCyst complicationsRenal functionChart reviewLower BMIManual chart review
2023
Beyond Loss of Kidney Function: Patient Care in Autosomal Dominant Polycystic Kidney Disease
Hogan M, Simmons K, Ullman L, Gondal M, Dahl N. Beyond Loss of Kidney Function: Patient Care in Autosomal Dominant Polycystic Kidney Disease. Kidney360 2023, 4: 1806-1815. PMID: 38010035, PMCID: PMC10758524, DOI: 10.34067/kid.0000000000000296.Peer-Reviewed Original ResearchConceptsAutosomal dominant polycystic kidney diseaseDominant polycystic kidney diseasePolycystic kidney diseaseKidney diseaseKidney Disease Improving Global Outcomes guidelinesGlobal Outcomes (KDIGO) guidelinesInitiation of RRTSuccessful kidney transplantEvidence-based guidelinesCurrent clinical practiceKidney stone managementMajor morbidityCardiac manifestationsKidney transplantOutcomes guidelinesKidney functionDepression screeningDisease benefitPancreatic cystsSpecialized careRoutine managementClinical practicePatient careStone managementDisease aspectsThe VUS Challenge in Cystic Kidney Disease: A Case-Based Review
Aklilu A, Gulati A, Kolber K, Yang H, Harris P, Dahl N. The VUS Challenge in Cystic Kidney Disease: A Case-Based Review. Kidney360 2023, 5: 152-159. PMID: 37962562, PMCID: PMC10833605, DOI: 10.34067/kid.0000000000000298.Peer-Reviewed Original ResearchAutosomal dominant polycystic kidney diseaseKidney diseaseHigh pre-test probabilityGenetic testingCase-based reviewPre-test probabilityDominant polycystic kidney diseaseRoutine genetic testingPost-test genetic counselingCystic kidney diseasePolycystic kidney diseaseFurther family studiesNephrology clinicKidney failureClinical criteriaCystic disordersOrdering clinicianCommon causeAppropriate carePathogenic variantsACMG guidelinesClinical settingDiagnostic groupingsUncertain significanceGenetic reportsThe 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 CenterPolycystic Kidney Disease Diet
Chebib F, Nowak K, Chonchol M, Bing K, Ghanem A, Rahbari-Oskoui F, Dahl N, Mrug M. Polycystic Kidney Disease Diet. Clinical Journal Of The American Society Of Nephrology 2023, 19: 664-682. PMID: 37729939, PMCID: PMC11108253, DOI: 10.2215/cjn.0000000000000326.Peer-Reviewed Original ResearchAutosomal dominant polycystic kidney diseaseDietary interventionCaloric restrictionIntermittent fastingMetabolic healthClinical trialsProgressive kidney function lossUncertain clinical benefitKidney function lossIdeal body weightExtensive clinical researchHigh fluid intakeLimited clinical evidenceDominant polycystic kidney diseasePolycystic kidney diseasePersonalized dietary guidelinesConcentrated sweetsAdverse eventsKetogenic dietClinical benefitClinical evidenceKidney diseaseADPKD progressionWeight managementFavorable outcomePharmacologic Management of Autosomal Dominant Polycystic Kidney Disease
Ackley W, Dahl N, Park M. Pharmacologic Management of Autosomal Dominant Polycystic Kidney Disease. Advances In Kidney Disease And Health 2023, 30: 228-235. PMID: 37088525, DOI: 10.1053/j.akdh.2023.02.002.Peer-Reviewed Original ResearchConceptsAutosomal dominant polycystic kidney diseaseEnd-stage kidney diseaseKidney diseaseDominant polycystic kidney diseasePolycystic kidney diseaseRapid progressionMechanism-specific treatmentsChronic kidney diseaseFourth leading causeTreatment of patientsPharmacologic managementLeading causeKidney disordersFDA approvalDiseaseTolvaptanProgressionTreatmentRiskMorbidityPatientsPathogenesisTherapyHypomorphic PKD1 Alleles Impact Disease Variability in Autosomal Dominant Polycystic Kidney Disease
Gulati A, Dahl N, Hartung E, Clark S, Moudgil A, Goodwin J, Somlo S. Hypomorphic PKD1 Alleles Impact Disease Variability in Autosomal Dominant Polycystic Kidney Disease. Kidney360 2023, 4: 387-392. PMID: 36706243, PMCID: PMC10103195, DOI: 10.34067/kid.0000000000000064.Peer-Reviewed Original Research
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 managementDiagnosisDesign 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
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
2019
Revisiting 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 testSimple renal cysts and bovine aortic arch: markers for aortic disease
Brownstein AJ, Bin Mahmood SU, Saeyeldin A, Velasquez Mejia C, Zafar MA, Li Y, Rizzo JA, Dahl NK, Erben Y, Ziganshin BA, Elefteriades JA. Simple renal cysts and bovine aortic arch: markers for aortic disease. Open Heart 2019, 6: e000862. PMID: 30774963, PMCID: PMC6350752, DOI: 10.1136/openhrt-2018-000862.Peer-Reviewed Original ResearchBovine aortic archSimple renal cystsThoracic aortic diseaseAbdominal aortic aneurysmType B aortic dissectionB aortic dissectionAortic dissectionAortic aneurysmAortic diseaseAortic archRenal cystsChronic kidney diseasePresence of hypertensionAortic aneurysm developmentAbdominal CTMultivariable analysisKidney diseaseRetrospective searchPatientsAneurysm developmentAneurysmsPropensity scoreDiseaseDissectionPrevalence
2018
A Practical Guide for Treatment of Rapidly Progressive ADPKD with Tolvaptan
Chebib FT, Perrone RD, Chapman AB, Dahl NK, Harris PC, Mrug M, Mustafa RA, Rastogi A, Watnick T, Yu ASL, Torres VE. A Practical Guide for Treatment of Rapidly Progressive ADPKD with Tolvaptan. Journal Of The American Society Of Nephrology 2018, 29: 2458-2470. PMID: 30228150, PMCID: PMC6171265, DOI: 10.1681/asn.2018060590.Peer-Reviewed Original ResearchConceptsAutosomal dominant polycystic kidney diseaseOpen-label extension studyProgressive autosomal dominant polycystic kidney diseaseFirst drug treatmentRenal protective measuresKidney function declineLiver enzyme elevationCare of patientsConfirmation of diagnosisEducation of patientsCounseling of patientsDominant polycystic kidney diseasePolycystic kidney diseaseTolvaptan treatmentProgressive diseaseEnzyme elevationFunction declineKidney diseaseClinical trialsGeneral practitionersDrug treatmentTreatment efficacyPatientsTolvaptanUS FoodTREX1 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