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 managementDiagnosisGenetic 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