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
2013
Extra-renal manifestations of autosomal dominant polycystic kidney disease (ADPKD): considerations for routine screening and management
Luciano RL, Dahl NK. Extra-renal manifestations of autosomal dominant polycystic kidney disease (ADPKD): considerations for routine screening and management. Nephrology Dialysis Transplantation 2013, 29: 247-254. PMID: 24215018, DOI: 10.1093/ndt/gft437.Peer-Reviewed Educational MaterialsConceptsAutosomal dominant polycystic kidney diseaseEnd-stage renal diseaseChronic kidney diseaseExtra-renal manifestationsKidney diseasePolycystic kidney diseaseDisease burdenRenal cystsBilateral renal cystsCurrent screening recommendationsDominant polycystic kidney diseaseExtra-renal diseaseDiverticular diseaseRenal diseaseScreening recommendationsSystemic diseaseADPKD patientsRoutine screeningMale infertilityDiseaseProgressive increasePatientsCystsManifestationsBurden