Deterioration in Clinical Status Is Not Enough to Suspend Eculizumab: A Genetic Complement-Mediated Atypical Hemolytic Uremic Syndrome Case Report. (9th July 2019)

• Record Type: Journal Article
• Authors: Calvaruso, Luca; Naticchia, Alessandro; Ferraro, Pietro Manuel; Vischini, Gisella; Costanzi, Stefano
• Other Names: Fujigaki Yoshihide Academic Editor.
• Is Part Of: Case reports in nephrology. Volume 2019(2019)
• Publication Date: 2019-07-09
• Subjects: Nephrology -- Periodicals; Kidneys -- Diseases -- Periodicals; Nephrology; Kidneys -- Diseases; Nephrology; Periodicals; Electronic journals; Periodicals; 616.61
• DOI: 10.1155/2019/9264824
• Languages: English
• ISSNs: 2090-6641

Abstract

Abstract : Background . Atypical hemolytic uremic syndrome (aHUS) is characterized by microangiopathic hemolytic anemia, thrombocytopenia, and renal failure. Mutations in CFI gene coding for complement regulation factors and in THBD gene coding for endothelial cell receptor thrombomodulin could predispose to the disease and hypertension can trigger the onset. Case Presentation . A 51-year-old female patient who had received kidney transplant eighteen years ago presented with hypertensive peak and hemolysis pattern. Normal ADAMTS13 levels as well as negative culture and serology for Shiga-toxin excluded, respectively, thrombotic thrombocytopenic purpura (TTP) and typical HUS caused by Shiga toxin-producing Escherichia coli (STEC-HUS). In suspicion of aHUS, we administered eculizumab and hemodialysis sessions were started as the patient showed severe renal failure. After an initial response, the patient developed cerebral hemorrhage. After last eculizumab administration, according to hematological parameters, an unsatisfactory response was observed: given the worsening clinical scenario, we withdrew eculizumab. Pathogenic mutations in CFI and THBD genes were found. After eculizumab reinitiation, looking at hemolysis indexes, we observed a suboptimal response as well as an otherwise adequate renal one: renal graft function was recovered despite persistence of hemolysis signs, after 6 months on regular dialysis. Conclusion . For the first time, we report an aHUS case in which a peculiar combination of mutations in CFI and THBD is found. We describe the importance of continuing eculizumab despite deterioration of patient's clinical conditions.