2024
Influenza B Triggering Atypical Hemolytic Uremic Syndrome (aHUS) in a Patient with Cobalamin C (CblC) Disease Carrier State and a Complement Factor H (CFH) Mutation
Becerra L, Moeckel G, Gunasekaran D. Influenza B Triggering Atypical Hemolytic Uremic Syndrome (aHUS) in a Patient with Cobalamin C (CblC) Disease Carrier State and a Complement Factor H (CFH) Mutation. Journal Of The American Society Of Nephrology 2024, 35: 10.1681/asn.2024vajywpws. DOI: 10.1681/asn.2024vajywpws.Peer-Reviewed Original ResearchAtypical hemolytic uremic syndromeComplement factor HHemolytic uremic syndromeUremic syndromeCobalamin CFactor HInfluenzaPatientsSyndromeMutations
2013
Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome
Lemaire M, Frémeaux-Bacchi V, Schaefer F, Choi M, Tang WH, Le Quintrec M, Fakhouri F, Taque S, Nobili F, Martinez F, Ji W, Overton JD, Mane SM, Nürnberg G, Altmüller J, Thiele H, Morin D, Deschenes G, Baudouin V, Llanas B, Collard L, Majid MA, Simkova E, Nürnberg P, Rioux-Leclerc N, Moeckel GW, Gubler MC, Hwa J, Loirat C, Lifton RP. Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome. Nature Genetics 2013, 45: 531-536. PMID: 23542698, PMCID: PMC3719402, DOI: 10.1038/ng.2590.Peer-Reviewed Original ResearchMeSH KeywordsAcute Kidney InjuryAtypical Hemolytic Uremic SyndromeChildChild, PreschoolDiacylglycerol KinaseExomeFemaleGenes, RecessiveHemolytic-Uremic SyndromeHumansImmunoenzyme TechniquesInfantMaleMolecular Sequence DataMutationRenal Insufficiency, ChronicThrombocytopeniaThrombotic MicroangiopathiesConceptsAtypical hemolytic uremic syndromeHemolytic uremic syndromeChronic kidney diseaseProthrombotic stateKidney diseaseDisease pathogenesisRecessive mutationsSyndromeEarly ageDGKEPathogenesisMutationsDisease