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Clinically Different Presentations of Family Members With the Same Homozygote Diacylglycerol Kinase Epsilon Mutation: Case Report.

Experimental and clinical transplantation : official journal of the Middle East Society for Organ Transplantation - 1 May 2022

Çelikkaya Evra, Güngör Tülin, Karakaya Deniz, Kargın Çakıcı Evrim, Yazılıtaş Fatma, Özaltın Fatih, Bülbül Mehmet

Abstract excerpt

Membranoproliferative glomerulonephritis and renal microangiopathies may manifest similar clinical presentations and histology. Many genetic mutations that cause these diseases have been reported. Studies on mutations in the gene encoding diacylglycerol kinase epsilon identified a novel pathophysiologic mechanism leading to atypical hemolytic uremic syndrome and/or membranoproliferative glomerulonephritis. Here,...

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PMID: 35570599
DOI: 10.6002/ect.PediatricSymp2022.O13

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Clinically Different Presentations of Family Members With the Same Homozygote Diacylglycerol Kinase Epsilon Mutation: Case Report.PMID 35570599Read ↗

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