2021
IgA vasculitis complicated by acute kidney failure with thrombotic microangiopathy: successful use of eculizumab
Patel DM, Cantley L, Moeckel G, Dahl NK, Luciano R. IgA vasculitis complicated by acute kidney failure with thrombotic microangiopathy: successful use of eculizumab. Journal Of Nephrology 2021, 34: 2141-2145. PMID: 34019254, DOI: 10.1007/s40620-021-01028-8.Peer-Reviewed Original Research
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