2022
Genetic Diseases Associated with Tubulointerstitial Nephritis
Wolf M, Besse W, Bleyer A, Dahl N. Genetic Diseases Associated with Tubulointerstitial Nephritis. 2022, 139-160. DOI: 10.1007/978-3-030-93438-5_11.ChaptersAutosomal dominant tubulointerstitial kidney diseaseTubulointerstitial kidney diseaseKidney diseaseExtrarenal manifestationsProgressive chronic kidney diseaseBland urinary sedimentChronic kidney diseaseNormal-sized kidneysMedullary cystic diseaseImmunosuppressive therapyKidney transplantationTubulointerstitial nephritisChronic inflammationCystic diseaseFamily historyUrinary sedimentEarly diagnosisHyperuricemic nephropathyClinical descriptionDiseaseSize kidneysGenetic formsDiagnosisInappropriate useOverlapping features
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