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

doi:10.1681/ASN.2017010031

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Article

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

Journal of the American Society of Nephrology : JASN - 1 Oct 2017

Azukaitis Karolis, Simkova Eva, Majid Mohammad Abdul, Galiano Matthias, Benz Kerstin, Amann Kerstin, Bockmeyer Clemens, Gajjar Radha, Meyers Kevin E, Cheong Hae Il, Lange-Sperandio Bärbel, Jungraithmayr Therese, Frémeaux-Bacchi Véronique, Bergmann Carsten, Bereczki Csaba, Miklaszewska Monika, Csuka Dorottya, Prohászka Zoltán, Killen Paul, Gipson Patrick, Sampson Matthew G, Lemaire Mathieu, Schaefer Franz

Abstract excerpt

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...

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Identifiers

PMID: 28526779
DOI: 10.1681/ASN.2017010031
PMCID: PMC5619969

Genes

DGKE

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