Atypical HUS caused by complement-related abnormalities

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  • 補体関連因子の異常によるaHUS
  • ホタイ カンレン インシ ノ イジョウ ニ ヨル aHUS

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Abstract

Atypical hemolytic uremic syndrome (aHUS) is a rare disease characterized by the triad of microangiopathic hemolytic anemia, thrombocytopenia, and acute renal failure. The term aHUS was historically used to distinguish this disorder from Shiga-toxin producing Escherichia coli (STEC)-HUS. Many aHUS cases (approximately 70%) are reportedly caused by uncontrolled complement activation due to genetic mutations in the alternative pathway, including complement factor H (CFH), complement factor I (CFI), membrane cofactor protein (MCP), thrombomodulin (THBD), complement component C3 (C3), and complement factor B (CFB). Mutations in the coagulation pathway, such as diacylglycerol kinase ε (DGKE) and plasminogen, are also reported to be causes of aHUS. In this review, we have focused on aHUS due to complement dysfunction. aHUS is suspected based on plasma ADAMTS13 activity of 10% or more, and being negative for STEC-HUS, in addition to the aforementioned triad. Complement genetic studies provide a more specific diagnosis of aHUS. Plasma therapy is the first-line treatment for patients with aHUS and should be initiated as soon as the diagnosis is suspected. Recently, eculizumab, a humanized monoclonal antibody against C5, was shown to be an effective treatment for aHUS. Therefore, early diagnosis and identification of the underlying pathogenic mechanism is important for improving the outcome of aHUS.

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  • Rinsho Ketsueki

    Rinsho Ketsueki 56 (2), 185-193, 2015

    The Japanese Society of Hematology

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