2022
Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference
Participants K, Köttgen A, Gall E, Halbritter J, Kiryluk K, Mallett A, Parekh R, Rasouly H, Sampson M, Tin A, Antignac C, Ars E, Bergmann C, Bleyer A, Bockenhauer D, Devuyst O, Florez J, Fowler K, Franceschini N, Fukagawa M, Gale D, Gbadegesin R, Goldstein D, Grams M, Greka A, Gross O, Guay-Woodford L, Harris P, Hoefele J, Hung A, Knoers N, Kopp J, Kretzler M, Lanktree M, Lipska-Ziętkiewicz B, Nicholls K, Nozu K, Ojo A, Parsa A, Pattaro C, Pei Y, Pollak M, Rhee E, Sanna-Cherchi S, Savige J, Sayer J, Scolari F, Sedor J, Sim X, Somlo S, Susztak K, Tayo B, Torra R, van Eerde A, Weinstock A, Winkler C, Wuttke M, Zhang H, King J, Cheung M, Jadoul M, Winkelmayer W, Gharavi A. Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference. Kidney International 2022, 101: 1126-1141. PMID: 35460632, PMCID: PMC9922534, DOI: 10.1016/j.kint.2022.03.019.Peer-Reviewed Original ResearchConceptsUse of genomicsUse of geneticsGenetic findingsGenome variationNumerous genesMolecular dataGenetic dataComplex kidney diseaseGenetic variantsGeneticsGenesEnvironmental factorsPolygenic scoresMonogenic kidney diseaseGenomicsChronic kidney diseaseImproved diagnosticsInheritanceKidney diseaseData resourcesOpen data resourcesPhenotyping
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