Kollbrunner Lara, Hirt-Minkowski Patricia, Sanz Javier, Bresin Elena, Neuhaus Thomas J, Hopfer Helmut, Jehle Andreas W
Department of Internal Medicine, Hirslanden Klinik St. Anna, Lucerne, Switzerland.
Transplantation Immunology and Nephrology, University Hospital Basel, Basel, Switzerland.
Front Med (Lausanne). 2021 Jun 2;8:679048. doi: 10.3389/fmed.2021.679048. eCollection 2021.
Lipoprotein glomerulopathy (LPG) is a rare inherited disease caused by mutations in the APOE gene, encoding apolipoprotein E (apoE). Atypical hemolytic uremic syndrome (aHUS) is a thrombotic microangiopathy (TMA) characterized by overactivation of the alternative complement pathway. Here we report the case of a 21-year-old man with LPG who developed aHUS. A functional complement assay demonstrated an overactivation of the complement system. Complementary genetic analysis revealed a homozygous aHUS risk allele for complement factor-H related 1 (CFHR1), CFHR1B. To the best of our knowledge, this is the first report of an aHUS in a patient with LPG.
脂蛋白肾小球病（LPG）是一种由载脂蛋白E（apoE）编码基因APOE突变引起的罕见遗传性疾病。非典型溶血性尿毒症综合征（aHUS）是一种血栓性微血管病（TMA），其特征是替代补体途径过度激活。在此，我们报告一例21岁患有LPG的男性并发aHUS的病例。功能性补体检测显示补体系统过度激活。补充基因分析揭示了补体因子H相关1（CFHR1）的纯合aHUS风险等位基因CFHR1B。据我们所知，这是首例LPG患者并发aHUS的报告。
