The Phenotypic Spectrum of Nephropathies Associated with Mutations in Diacylglycerol Kinase ε

Journal of the American Society of Nephrology : JASN
Karolis AzukaitisFranz Schaefer

Abstract

The recent discovery of mutations in the gene encoding diacylglycerol kinase ε (DGKE) identified a novel pathophysiologic mechanism leading to HUS and/or MPGN. We report ten new patients from eight unrelated kindreds with DGKE nephropathy. We combined these cases with all previously published cases to characterize the phenotypic spectrum and outcomes of this new disease entity. Most patients presented with HUS accompanied by proteinuria, whereas a subset of patients exhibited clinical and histologic patterns of MPGN without TMA. We also report the first two patients with clinical and histologic HUS/MPGN overlap. DGKE-HUS typically manifested in the first year of life but was not exclusively limited to infancy, and viral triggers frequently preceded HUS episodes. We observed signs of complement activation in some patients with DGKE-HUS, but the role of complement activation remains unclear. Most patients developed a slowly progressive proteinuric nephropathy: 80% of patients did not have ESRD within 10 years of diagnosis. Many patients experienced HUS remission without specific treatment, and a few patients experienced HUS recurrence despite complete suppression of the complement pathway. Five patients received renal allografts,...Continue Reading

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Mar 1, 2018·European Journal of Human Genetics : EJHG·Hanns LochmüllerUNKNOWN EURenOmics consortium
Feb 15, 2018·BMJ Case Reports·Ratna BasakRobert Woroniecki
Apr 17, 2019·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Arvind BaggaUNKNOWN Indian Society of Pediatric Nephrology
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May 7, 2021·Nature Reviews. Nephrology·Fadi Fakhouri, Véronique Frémeaux-Bacchi
Jun 30, 2021·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Neslihan GünayMuammer Hakan Poyrazoğlu
Jul 25, 2021·Journal of Clinical Medicine·Sjoerd A M E G Timmermans, Pieter van Paassen

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