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 conditionsPreimplantationTolvaptan and Autosomal Dominant Polycystic Kidney Disease Progression in Individuals Aged 18–35 Years: A Pooled Database Analysis
Chebib F, Dahl N, Zhou X, Garbinsky D, Wang J, Nunna S, Oberdhan D, Fernandes A. Tolvaptan and Autosomal Dominant Polycystic Kidney Disease Progression in Individuals Aged 18–35 Years: A Pooled Database Analysis. Kidney Medicine 2024, 100935. DOI: 10.1016/j.xkme.2024.100935.Peer-Reviewed Original ResearchAutosomal dominant polycystic kidney diseaseMedian follow-upEGFR decline rateFollow-upEGFR declineIncreased risk of rapid progressionAutosomal dominant polycystic kidney disease patientsKidney failureRisk of rapid progressionStandard of care treatmentBenefits of tolvaptanTolvaptan-treated patientsChronic kidney disease stageEfficacy of tolvaptanPolycystic kidney disease progressionEffect of tolvaptanAutosomal dominant polycystic kidney disease progressionKidney disease stageDominant polycystic kidney diseaseLong-term efficacyFollow-up periodKidney disease progressionMayo imaging classificationPolycystic kidney diseaseMixed-effects modelsBiomarkers 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 reportsPolycystic 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 ResearchConceptsAutosomal dominant polycystic kidney diseaseKidney diseaseDominant polycystic kidney diseasePolycystic kidney diseaseMild kidney disease
2022
Tolvaptan Modifies Patient Risk Class Distribution Over Time in Autosomal Dominant Polycystic Kidney Disease (ADPKD): An Analysis of Data From the TEMPO 3:4 Trial
Dahl N, Chebib F, Rahbari-Oskoui F, Japes H, Jiang H, Tracy L, Mccormick L, Maringer K, Perrone R, Nourbakhsh A. Tolvaptan Modifies Patient Risk Class Distribution Over Time in Autosomal Dominant Polycystic Kidney Disease (ADPKD): An Analysis of Data From the TEMPO 3:4 Trial. Journal Of The American Society Of Nephrology 2022, 33: 161-162. DOI: 10.1681/asn.20223311s1161d.Peer-Reviewed Original ResearchAutosomal dominant polycystic kidney diseaseDominant polycystic kidney diseasePolycystic kidney diseaseDesign 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 studies
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 test
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 FoodQuantification of Urinary Protein Biomarkers of Autosomal Dominant Polycystic Kidney Disease by Parallel Reaction Monitoring
Rauniyar N, Yu X, Cantley J, Voss EZ, Belcher J, Colangelo CM, Stone KL, Dahl N, Parikh C, Lam TT, Cantley LG. Quantification of Urinary Protein Biomarkers of Autosomal Dominant Polycystic Kidney Disease by Parallel Reaction Monitoring. Proteomics Clinical Applications 2018, 12: e1700157. PMID: 29573172, PMCID: PMC6736530, DOI: 10.1002/prca.201700157.Peer-Reviewed Original ResearchConceptsAutosomal dominant polycystic kidney diseaseDominant polycystic kidney diseasePolycystic kidney diseaseCyst growthKidney diseaseUrinary proteinNormal controlsEnd-stage renal failureUrine samplesUrinary protein biomarkersLife-long diseasePresence of cystsRespective urine samplesMost patientsRenal failureADPKD patientsEarly diagnosisClinical relevanceUrinary proteomeParallel reaction monitoringPatientsCyst formationDiseaseWater intakePathogenesisPreimplantation 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 eventsSemaphorin 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
2015
Total Kidney Volume in Autosomal Dominant Polycystic Kidney Disease: A Biomarker of Disease Progression and Therapeutic Efficacy
Alam A, Dahl NK, Lipschutz JH, Rossetti S, Smith P, Sapir D, Weinstein J, McFarlane P, Bichet DG. Total Kidney Volume in Autosomal Dominant Polycystic Kidney Disease: A Biomarker of Disease Progression and Therapeutic Efficacy. American Journal Of Kidney Diseases 2015, 66: 564-576. PMID: 25960302, DOI: 10.1053/j.ajkd.2015.01.030.Peer-Reviewed Original ResearchConceptsTotal kidney volumeAutosomal dominant polycystic kidney diseaseDisease progressionKidney enlargementKidney functionClinical trialsKidney volumeEnd pointAutosomal dominant polycystic kidneyKidney function measuresPrognostic end pointProgressive kidney enlargementEfficacy end pointGlomerular filtration rateDominant polycystic kidney diseasePolycystic kidney diseaseFluid-filled cystsKidney diseaseFiltration rateCurrent evidencePolycystic kidneysCyst growthFibrotic tissueTherapeutic efficacyTherapeutic interventions
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
2012
Evaluation of urine biomarkers of kidney injury in polycystic kidney disease
Parikh CR, Dahl NK, Chapman AB, Bost JE, Edelstein CL, Comer DM, Zeltner R, Tian X, Grantham JJ, Somlo S. Evaluation of urine biomarkers of kidney injury in polycystic kidney disease. Kidney International 2012, 81: 784-790. PMID: 22258321, PMCID: PMC3319327, DOI: 10.1038/ki.2011.465.Peer-Reviewed Original ResearchMeSH KeywordsAcute-Phase ProteinsAdultAnimalsBiomarkersDisease ProgressionFemaleHumansInterleukin-18KidneyKidney Failure, ChronicLipocalin-2LipocalinsLongitudinal StudiesMaleMiceMice, KnockoutMice, TransgenicOncogene ProteinsPolycystic Kidney, Autosomal DominantProto-Oncogene ProteinsRatsRats, Mutant StrainsRats, Sprague-DawleyReceptors, Interleukin-18TRPP Cation ChannelsConceptsAutosomal dominant polycystic kidney diseaseTotal kidney volumeKidney volumeIL-18Polycystic kidney diseaseKidney diseaseCyst fluidRenal tubular integrityIL-18 levelsRenal Disease equationSerial urine samplesGlomerular filtration rateModification of DietExpression of Lcn2Min/yearPolycystic Kidney Disease (CRISP) studyUrine of patientsDominant polycystic kidney diseaseKidney Disease studyUrinary collecting systemMean percentage increaseSPRD rat modelUrinary NGALUrine NGALKidney injury