National Clinical Research Center of Kidney Diseases, Jinling Hospital, Nanjing University School of Medicine, East Zhongshan Road 305, Nanjing, 210000, China.
National Clinical Research Center of Kidney Diseases, Jinling Hospital, Nanjing Medical University, East Zhongshan Road 305, Nanjing, 210000, China.
BMC Nephrol. 2018 Jun 25;19(1):148. doi: 10.1186/s12882-018-0952-z.
It has been suggested that C3 glomerulonephritis (C3GN) and atypical hemolytic-uremic syndrome (a stereotypical phenotype of thrombotic microangiopathy), two rare entities caused by complement alternative pathway dysregulation share overlapping genetic origin and can be triggered by infections.
We report a case of concomitant C3GN and thrombotic microangiopathy (TMA) after pulmonary infection in a young male receiving kidney transplantation. Genetic assessment revealed two missense variations in compound heterozygous form in CFI gene (complement factor I). These two variations are segregated with disease in the core family member of this patient. Plasma CFI levels of the patient and family members were all in normal range. We considered that these two variations only impair CFI function rather than its quantity in the serum.
Our case supports that C3GN and TMA shared overlapping genetic variations and might be triggered by infection in genetically susceptible patients after kidney transplantation.
据报道，补体替代途径失调引起的两种罕见疾病 C3 肾小球肾炎（C3GN）和非典型溶血尿毒综合征（血栓性微血管病的典型表型）可能具有重叠的遗传起源，并可由感染引发。
我们报告了一例年轻男性肾移植后肺部感染并发 C3GN 和血栓性微血管病（TMA）的病例。基因评估显示，该患者复合杂合形式的 CFI 基因（补体因子 I）存在两个错义变异。这两种变异与该患者核心家族成员的疾病相关。患者和家族成员的血浆 CFI 水平均在正常范围内。我们认为这两种变异仅损害 CFI 功能，而不是其在血清中的含量。
我们的病例支持 C3GN 和 TMA 具有重叠的遗传变异，并可能在肾移植后具有遗传易感性的患者中由感染引发。
