2024
Biomarkers 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
2018
Preimplantation 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 events