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

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

Abstract 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 b...

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Bibliographic Details
Main Authors: Muneera Alabdulqader, Khalid Alfakeeh
Format: Article
Language:English
Published: BMC 2021-04-01
Series:BMC Nephrology
Subjects:
Haemolytic uraemic syndrome
DGKE mutation
Eculizumab
Online Access:https://doi.org/10.1186/s12882-021-02352-8

Internet

https://doi.org/10.1186/s12882-021-02352-8

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