Atypical Hemolytic Uremic Syndrome With the p.Ile1157Thr C3 Mutation Successfully Treated With Plasma Exchange and Eculizumab: A Case Report. (April 2019)

• Record Type: Journal Article
• Authors: Saito, Daiki; Watanabe, Eizo; Ashida, Akira; Kato, Hideki; Yoshida, Yoko; Nangaku, Masaomi; Ohtsuka, Yasufumi; Miyata, Toshiyuki; Hattori, Noriyuki; Oda, Shigeto
• Is Part Of: Critical care explorations. Volume 1:Number 4(2019)
• Publication Date: 2019-04
• Subjects: acute kidney injury -- atypical hemolytic uremic syndrome -- complement -- genetics -- plasma exchange
• DOI: 10.1097/CCE.0000000000000008
• Languages: English
• ISSNs: 2639-8028

Abstract

Abstract : Objectives: To describe a case of atypical hemolytic uremic syndrome induced by influenza A infection with the p.Ile1157Thr C3 mutation. Data Sources: Clinical observations of a patient. Study Selection: Case reports. Data Extraction: Data extracted from medical records, after patient's consent. Data Synthesis: Four days prior to presentation to our hospital, a 16-year-old adolescent had a fever and arthralgia with hematuria. He was found to be positive for type A influenza and prescribed oseltamivir and acetaminophen by a primary-care physician. A bleeding tendency and purpura in the extremities and on the trunk developed; therefore, he was transferred to Chiba University Hospital. Hematology revealed severe thrombocytopenia, hyperbilirubinemia, and acute kidney injury. Aspartate aminotransferase, lactate dehydrogenase, and potassium could not be determined because of severe hemolysis. Highly elevated blood urea nitrogen and creatinine levels indicated acute kidney injury. A platelet count of 24, 000/μL indicated thrombocytopenia, with low hemoglobin level. Peripheral blood profiling identified schistocytes. Continuous hemodiafiltration and plasma infusion were initiated immediately; however, he became oliguric. Plasma exchange was initiated on ICU day 3, but decreased urine output, hemolysis, and thrombocytopenia persisted. IV eculizumab therapy was initiated on day 7 and resulted in recovery of these symptoms and also successful discontinuation of renal support. The patient showed a stable condition without recurrence of hemolytic findings and acute kidney injury and is currently on maintenance therapy of eculizumab (1, 200 mg, every other week) without any relapse of atypical hemolytic uremic syndrome symptoms. A plasma sample collected prior to initiation of plasma exchange showed an disintegrin-like and metalloprotease with thrombospondin type 1 motifs 13 activity level of 104.9%. The absence of both Shiga toxin-producing Escherichia coli in feces led to suspicion of atypical hemolytic uremic syndrome. Subsequent genetic analysis identified a mutation in C3 (p.Ile1157Thr), confirming the diagnosis of atypical hemolytic uremic syndrome. Conclusions: Although managing thrombocytopenia secondary to infection, inclusion of atypical hemolytic uremic syndrome in the differential diagnosis at an early stage is important in clinical practice. Abstract : Supplemental Digital Content is available in the text.