Characterization of a New DGKE Intronic Mutation in Genetically Unsolved Cases of Familial Atypical Hemolytic Uremic Syndrome.

doi:10.2215/CJN.08520814

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Article

Characterization of a New DGKE Intronic Mutation in Genetically Unsolved Cases of Familial Atypical Hemolytic Uremic Syndrome.

Clinical journal of the American Society of Nephrology : CJASN - 5 Jun 2015

Mele Caterina, Lemaire Mathieu, Iatropoulos Paraskevas, Piras Rossella, Bresin Elena, Bettoni Serena, Bick David, Helbling Daniel, Veith Regan, Valoti Elisabetta, Donadelli Roberta, Murer Luisa, Neunhäuserer Maria, Breno Matteo, Frémeaux-Bacchi Véronique, Lifton Richard, Remuzzi Giuseppe, Noris Marina

Abstract excerpt

BACKGROUND AND OBJECTIVES: Genetic and acquired abnormalities causing dysregulation of the complement alternative pathway contribute to atypical hemolytic uremic syndrome (aHUS), a rare disorder characterized by thrombocytopenia, nonimmune microangiopathic hemolytic anemia, and acute kidney failure. However, in a substantial proportion of patients the disease-associated alterations are still unknown. DESIGN,...

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Identifiers

PMID: 25854283
DOI: 10.2215/CJN.08520814
PMCID: PMC4455211

Genes

DGKE

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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