一名具有膜辅因子蛋白（CD46）基因变异的患者因急性胰腺炎引发非典型溶血性尿毒症综合征。
Atypical Hemolytic Uremic Syndrome Triggered by Acute Pancreatitis in a Patient with a Membrane Cofactor Protein (CD46) Genetic Variant.
作者信息
Mochizuki Kosuke, Toda Naohiro, Fujita Masaaki, Kurahashi Satoshi, Hirashima Hisako, Yoshioka Kazuki, Kitagawa Tomoya, Ishii Akira, Komiya Toshiyuki
机构信息
Department of Nephrology, Kansai Electric Power Hospital, Japan.
Department of Rheumatology, Kansai Electric Power Hospital, Japan.
出版信息
Intern Med. 2024 Oct 1;63(19):2651-2654. doi: 10.2169/internalmedicine.3169-23. Epub 2024 Feb 26.
Atypical hemolytic uremic syndrome (aHUS) is a type of HUS. We herein report a case of aHUS triggered by pancreatitis in a patient with a heterozygous variant of membrane cofactor protein (MCP; P165S), a complement-related gene. Plasma exchange therapy and hemodialysis improved thrombocytopenia and anemia without leading to end-stage kidney disease. This MCP heterozygous variant was insufficient to cause aHUS on its own. Pancreatitis, in addition to a genetic background with a MCP heterozygous variant, led to the manifestation of aHUS. This case supports the "multiple hit theory" that several factors are required for the manifestation of aHUS.
非典型溶血性尿毒症综合征（aHUS）是溶血性尿毒症综合征的一种类型。我们在此报告一例由胰腺炎引发的aHUS病例，该患者存在补体相关基因膜辅助蛋白（MCP；P165S）的杂合变异。血浆置换疗法和血液透析改善了血小板减少症和贫血，且未导致终末期肾病。这种MCP杂合变异本身不足以引发aHUS。除了具有MCP杂合变异的遗传背景外，胰腺炎导致了aHUS的表现。该病例支持“多重打击理论”，即aHUS的表现需要多种因素。
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