2018
TREX1 Mutation Causing Autosomal Dominant Thrombotic Microangiopathy and CKD—A Novel Presentation
Gulati A, Bale AE, Dykas DJ, Bia MJ, Danovitch GM, Moeckel GW, Somlo S, Dahl NK. TREX1 Mutation Causing Autosomal Dominant Thrombotic Microangiopathy and CKD—A Novel Presentation. American Journal Of Kidney Diseases 2018, 72: 895-899. PMID: 29941221, DOI: 10.1053/j.ajkd.2018.05.006.Peer-Reviewed Original ResearchConceptsRenal thrombotic microangiopathyThrombotic microangiopathyTREX1 mutationsRetinal microangiopathyChronic kidney diseaseRepair exonuclease 1Whole-exome sequencingSignificant brainSymptomatic brainTREX1 variantsKidney involvementClinical presentationKidney diseaseCerebral leukodystrophyComplement dysregulationMicroangiopathyClinical importanceDiverse causesComplement regulationNovel presentationSubstantial proportionBrainSignificant proportionGenetic determinantsCause
2015
Total Kidney Volume in Autosomal Dominant Polycystic Kidney Disease: A Biomarker of Disease Progression and Therapeutic Efficacy
Alam A, Dahl NK, Lipschutz JH, Rossetti S, Smith P, Sapir D, Weinstein J, McFarlane P, Bichet DG. Total Kidney Volume in Autosomal Dominant Polycystic Kidney Disease: A Biomarker of Disease Progression and Therapeutic Efficacy. American Journal Of Kidney Diseases 2015, 66: 564-576. PMID: 25960302, DOI: 10.1053/j.ajkd.2015.01.030.Peer-Reviewed Original ResearchConceptsTotal kidney volumeAutosomal dominant polycystic kidney diseaseDisease progressionKidney enlargementKidney functionClinical trialsKidney volumeEnd pointAutosomal dominant polycystic kidneyKidney function measuresPrognostic end pointProgressive kidney enlargementEfficacy end pointGlomerular filtration rateDominant polycystic kidney diseasePolycystic kidney diseaseFluid-filled cystsKidney diseaseFiltration rateCurrent evidencePolycystic kidneysCyst growthFibrotic tissueTherapeutic efficacyTherapeutic interventions