A patient with a homozygous diacylglycerol kinase epsilon (DGKE) gene mutation with atypical haemolytic uraemic syndrome and low C3 responded well to eculizumab: a case report

BACKGROUND: Atypical haemolytic uraemic syndrome (aHUS) is a rare systemic syndrome characterized by non-immune haemolytic anaemia, thrombocytopenia, and kidney injury. In most cases, alternative complement pathway dysregulation is the identifying cause. Recently, other genetic causes have been iden...

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Detalles Bibliográficos
Autores principales: Alabdulqader, Muneera, Alfakeeh, Khalid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8056694/
https://www.ncbi.nlm.nih.gov/pubmed/33879077
http://dx.doi.org/10.1186/s12882-021-02352-8

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