2018, Cilt 27, Sayı 3, Sayfa(lar) 308-312
Complement Factor H and Complement Factor H-Related Protein 5 Mutations Associated with Atypical Hemolytic Uremic Syndrome in a Systemic Lupus Erythematosus Patient: Efficacy of Eculizumab
DOI 10.5262/tndt.2018.2652
Sibel ERSAN1, Bengü ERKUL2, Banu AVCIOĞLU YILMAZ1, Semih GÜLLE2, Zevcet YILMAZ3
1Izmir Tepecik Research and Training Hospital, Department of Nephrology, Izmir, Turkey
2Izmir Tepecik Research and Training Hospital, Department of Internal Medicine, Izmir, Turkey
3Izmir Tepecik Research and Training Hospital, Department of Rheumatology, Izmir, Turkey
Keywords: SLE, aHUS, Eculizumab

Atypical hemolytic uremic syndrome (aHUS) is a disorder characterized by a propensity to thrombotic microangiopathy (TMA) due to defective regulation of the alternative complement pathway. Mutations in genes encoding complement factor H (CFH) and complement factor H-related proteins (CFHR) can be related with aHUS and identified in patients with rheumatologic diseases.

Atypical HUS typically presents as acute kidney injury (AKI) associated with microangiopathic hemolytic anemia (MAHA) and thrombocytopenia. We describe a SLE patient with severe AKI due to aHUS related CFH and CFHR5 mutations. The patient was refractory to immunosuppressives and plasmapheresis but responded well to eculizumab.


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