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

Omar K Abughanimeh; Muhamed Baljevic; Alex Nester

doi:10.7759/cureus.52633

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

Cureus. 2024 Jan 20;16(1):e52633. doi: 10.7759/cureus.52633. eCollection 2024 Jan.

Authors

Omar K Abughanimeh¹, Muhamed Baljevic², Alex Nester¹

Affiliations

¹ Division of Hematology-Oncology, Department of Internal Medicine, University of Nebraska Medical Center, Omaha, USA.
² Division of Hematology-Oncology, Department of Internal Medicine, Vanderbilt University Medical Center, Vanderbilt-Ingram Cancer Center, Nashville, USA.

Abstract

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.

Keywords: ahus; atypical hemolytic uremic syndrome; cfi; dgke; thrombotic microangiopathy (tma).

Publication types

Case Reports