2024
Genetic and Clinical Characterization of Patients with ADPKD and Intracranial Aneurysms: The PKD-VASC Cohort
Patel P, Besse W, Gulati A, Shaw M, Blumenfeld J, Pei Y, Gitomer B, Perrone R, Caliskan Y, Park H, Yu A, Dahl N, Rahbari-Oskoui F, Somlo S, Watnick T. Genetic and Clinical Characterization of Patients with ADPKD and Intracranial Aneurysms: The PKD-VASC Cohort. Journal Of The American Society Of Nephrology 2024, 35: 10.1681/asn.2024pma0ae6c. DOI: 10.1681/asn.2024pma0ae6c.Peer-Reviewed Original ResearchCharacterization of IFT140 Phenotype in Patients with ADPKD Using Advanced Imaging Biomarkers
Ghanem A, Debeh F, Borghol A, Paul S, Alkhatib B, Nader N, Gregory A, Yang H, Hanna C, Dahl N, Kline T, Harris P, Chebib F. Characterization of IFT140 Phenotype in Patients with ADPKD Using Advanced Imaging Biomarkers. Journal Of The American Society Of Nephrology 2024, 35: 10.1681/asn.20240vzj2pha. DOI: 10.1681/asn.20240vzj2pha.Peer-Reviewed Original ResearchKidney Stone Incidence in Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD)
Ostrow A, Gregory A, Kline T, Harris P, Dahl N, Erickson B, Nowak K, Torres V, Goldfarb D, Gitomer B, Chonchol M. Kidney Stone Incidence in Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD). Journal Of The American Society Of Nephrology 2024, 35: 10.1681/asn.2024nvt3dy6d. DOI: 10.1681/asn.2024nvt3dy6d.Peer-Reviewed Original ResearchCharacterization of GANAB Phenotype in Patients with ADPKD Using Advanced Imaging Biomarkers
Debeh F, Rangarajan V, Ghanem A, Borghol A, Paul S, Alkhatib B, Nader N, Gregory A, Yang H, Hanna C, Dahl N, Kline T, Harris P, Chebib F. Characterization of GANAB Phenotype in Patients with ADPKD Using Advanced Imaging Biomarkers. Journal Of The American Society Of Nephrology 2024, 35: 10.1681/asn.2024xrre28mc. DOI: 10.1681/asn.2024xrre28mc.Peer-Reviewed Original ResearchCystic Phenotypes Associated with Monoallelic COL4A3/A4/A5 Pathogenic Variants Identified in a Population-Based Cohort
Sohi G, Elbarougy D, Yang H, Schauer R, McDonnell S, Frank J, Ma J, Dahl N, Hogan M, Torres V, Harris P. Cystic Phenotypes Associated with Monoallelic COL4A3/A4/A5 Pathogenic Variants Identified in a Population-Based Cohort. Journal Of The American Society Of Nephrology 2024, 35: 10.1681/asn.202460cgtrgd. DOI: 10.1681/asn.202460cgtrgd.Peer-Reviewed Original ResearchPhenotypic Characterization of Patients with ADPKD with PKD1 and PKD2 Pathogenic Variants Using Advanced Imaging Biomarkers
Borghol A, Debeh F, Ghanem A, Paul S, Alkhatib B, Nader N, Gregory A, Yang H, Hanna C, Dahl N, Kline T, Harris P, Chebib F. Phenotypic Characterization of Patients with ADPKD with PKD1 and PKD2 Pathogenic Variants Using Advanced Imaging Biomarkers. Journal Of The American Society Of Nephrology 2024, 35: 10.1681/asn.2024jkdywd8g. DOI: 10.1681/asn.2024jkdywd8g.Peer-Reviewed Original ResearchClinical 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 indexCKD Risk Stratification
Chebib F, Dahl N. CKD Risk Stratification. Journal Of The American Society Of Nephrology 2024, 35: 1146-1148. PMID: 39053619, PMCID: PMC11387029, DOI: 10.1681/asn.0000000000000455.Peer-Reviewed Original ResearchAdvancing 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 PMID: 39033956, 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 reviewPain and Health-Related Quality of Life in Autosomal Dominant Polycystic Kidney Disease: Results from a National Patient-Powered Registry
Hoover E, Holliday V, Merullo N, Oberdhan D, Perrone R, Rusconi C, Park M, Phadnis M, Thewarapperuma N, Dahl N. Pain and Health-Related Quality of Life in Autosomal Dominant Polycystic Kidney Disease: Results from a National Patient-Powered Registry. Kidney Medicine 2024, 6: 100813. PMID: 38689835, PMCID: PMC11059322, DOI: 10.1016/j.xkme.2024.100813.Peer-Reviewed Original ResearchHealth-related quality of lifeQuality of lifeHRQoL toolsOutcomes health-related quality of lifeDisease-specific assessment toolsHealth care accessCore outcome domainsDisease-specific patientHealth-related qualityBurden of painCross-sectional assessmentHRQoL modulePositive HRQoLPain interferenceCare accessHealthcare accessPatient experienceConsenting participantsCore questionnaireOutcome domainsImpact ScalePain severityEmotional distressHRQoLPatient reportsWhat is the Appropriate Dose of Tolvaptan in ADPKD?
Dahl N, Torres V. What is the Appropriate Dose of Tolvaptan in ADPKD? Kidney International Reports 2024, 9: 737-739. PMID: 38765581, PMCID: PMC11101796, DOI: 10.1016/j.ekir.2024.01.049.Peer-Reviewed Original Research
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 reportsA Diagnosis of Depression/Anxiety Is Associated with More Rapid eGFR Decline in Autosomal Dominant Polycystic Kidney Disease
Simmons K, Ullman L, Dahl N. A Diagnosis of Depression/Anxiety Is Associated with More Rapid eGFR Decline in Autosomal Dominant Polycystic Kidney Disease. Journal Of The American Society Of Nephrology 2023, 34: 214-214. DOI: 10.1681/asn.20233411s1214a.Peer-Reviewed Original ResearchState of the Science and Ethical Considerations for Preimplantation Genetic Testing for Monogenic Cystic Kidney Diseases and Ciliopathies
Thompson W, Babayev S, McGowan M, Kattah A, Wick M, Bendel-Stenzel E, Chebib F, Harris P, Dahl N, Torres V, Hanna C. State of the Science and Ethical Considerations for Preimplantation Genetic Testing for Monogenic Cystic Kidney Diseases and Ciliopathies. Journal Of The American Society Of Nephrology 2023, 35: 235-248. PMID: 37882743, PMCID: PMC10843344, DOI: 10.1681/asn.0000000000000253.Peer-Reviewed Original ResearchThe 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 outcome