2023
Thrombotic Microangiopathy and Acute Tubular Injury After Diethylene Glycol Ingestion: A Kidney Biopsy Teaching Case
Malvar G, Gunasekaran D, Mehr N, Ishibe S, Moeckel G. Thrombotic Microangiopathy and Acute Tubular Injury After Diethylene Glycol Ingestion: A Kidney Biopsy Teaching Case. Kidney Medicine 2023, 6: 100758. PMID: 38304581, PMCID: PMC10831151, DOI: 10.1016/j.xkme.2023.100758.Peer-Reviewed Original ResearchAcute tubular injuryThrombotic microangiopathyTubular injuryEndothelial injuryPossible life-threatening complicationsDirect toxic injuryIncidence of AKIInitial gastrointestinal symptomsLife-threatening complicationsTypical clinical courseDiethylene glycol poisoningPeripheral sensorimotor neuropathyHigh mortality rateDiethylene glycol ingestionGastrointestinal symptomsClinical courseKidney biopsyGlycol ingestionSensorimotor neuropathyGlycol poisoningPathological lesionsToxic injuryGenetic predispositionUnusual caseMortality rate
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