PDF(Pubmed)
Abstract：
A 34-year-old Japanese man presented with blurred vision, headache, nausea, anemia, thrombocytopenia, and severe renal dysfunction. Thrombotic microangiopathy was initially suspected to have been caused by malignant hypertension. Antihypertensive medications did not improve his thrombocytopenia or renal dysfunction, and other diseases causing thrombotic microangiopathy were ruled out. Therefore, the patient was diagnosed with atypical hemolytic uremic syndrome. A renal biopsy revealed an overlap of thrombotic microangiopathy and C3 glomerulopathy. Genetic testing revealed c.848A>G (p.Asp283Gly), a missense heterozygous variant in the gene encoding complement factor I. Overlapping atypical hemolytic uremic syndrome and C3 glomerulopathy with complement factor I mutation is very rare, especially in Japan.
摘要：
一名34岁的日本男子视力模糊，头痛,恶心,贫血,血小板减少症,和严重的肾功能不全.最初怀疑血栓性微血管病是由恶性高血压引起的。降压药不能改善他的血小板减少症或肾功能不全，和其他引起血栓性微血管病的疾病被排除。因此,患者被诊断为非典型溶血性尿毒综合征。肾活检显示血栓性微血管病和C3肾小球病重叠。基因检测显示c.848A>G（p。Asp283Gly),编码补体因子I的基因中的错义杂合变体。用补体因子I突变重叠非典型溶血性尿毒综合征和C3肾小球病非常罕见，尤其是在日本。
