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
2013
Cystic Kidney Disease in a Patient With Systemic Toxicity From Long-term d-Penicillamine Use
Koraishy FM, Cohen RA, Israel GM, Dahl NK. Cystic Kidney Disease in a Patient With Systemic Toxicity From Long-term d-Penicillamine Use. American Journal Of Kidney Diseases 2013, 62: 806-809. PMID: 23796907, DOI: 10.1053/j.ajkd.2013.04.017.Peer-Reviewed Original ResearchConceptsCystic kidney diseaseKidney diseaseKidney injuryD-penicillamineLong-term d-penicillamine therapyD-penicillamine therapyD-penicillamine toxicityAcute kidney injuryD-penicillamine treatmentEvidence of cystsElastosis perforans serpiginosaTreatment of cystinuriaImpaired repair processMultiorgan manifestationsSystemic manifestationsKidney functionMembranous glomerulonephritisSkin findingsGlomerular abnormalitiesRenal imagingCollagen depositionSystemic toxicityPatientsCyst formationDisease