Novel Heterozygous Missense Variants in Diacylglycerol Kinase Epsilon and Complement Factor I: Potential Pathogenic Association With Atypical Hemolytic Uremic Syndrome

Hemolytic uremic syndrome (HUS) is a thrombotic microangiopathy (TMA), which copresents with microangiopathic hemolytic anemia, thrombocytopenia, and kidney injury. While typical HUS is normally preceded by infections such as Shiga-toxin-producing Escherichia coli, atypical HUS (aHUS) has a genetic...

Full description

Saved in:
Bibliographic Details
Published inCureus Vol. 16; no. 1; p. e52633
Main Authors Abughanimeh, Omar K, Baljevic, Muhamed, Nester, Alex
Format Report
LanguageEnglish
Published 01.01.2024
Online AccessGet full text

Cover

More Information
Summary:Hemolytic uremic syndrome (HUS) is a thrombotic microangiopathy (TMA), which copresents with microangiopathic hemolytic anemia, thrombocytopenia, and kidney injury. While typical HUS is normally preceded by infections such as Shiga-toxin-producing Escherichia coli, atypical HUS (aHUS) has a genetic component that leads to dysregulation of the alternative complement pathway. We report a case of a 69-year-old female who developed aHUS after undergoing an elective knee surgery. Genetic testing revealed novel mutations affecting diacylglycerol kinase epsilon (DGKE) protein and complement factor I (CFI) that were not reported before as pathogenic. The patient was treated with eculizumab, leading to the complete resolution of TMA with no lasting organ damage.
Bibliography:ObjectType-Case Study-2
content type line 59
SourceType-Reports-1
ObjectType-Report-1
ISSN:2168-8184
2168-8184
DOI:10.7759/cureus.52633