2024
Cystic 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 ResearchPopulation-based cohortPathogenic variantsPhenotypic 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 ResearchBiomarkers 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 volume
2023
The 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 reports
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 managementDiagnosis