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 Research
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