Imamura Hideaki, Konomoto Takao, Tanaka Etsuko, Hisano Satoshi, Yoshida Yoko, Fujimura Yoshihiro, Miyata Toshiyuki, Nunoi Hiroyuki
Division of Pediatrics, Department of Reproductive and Developmental Medicine, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan Department of Molecular Pathogenesis, National Cerebral and Cardiovascular Center, Osaka, Japan.
Division of Pediatrics, Department of Reproductive and Developmental Medicine, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan.
Nephrol Dial Transplant. 2015 May;30(5):862-4. doi: 10.1093/ndt/gfv054. Epub 2015 Mar 10.
We report the first case of familial C3 glomerulonephritis (C3GN) associated with mutations in the gene for complement factor B (CFB). A 12-year-old girl was diagnosed with biopsy-proven C3GN. Her mother had a history of treatment for membranoproliferative glomerulonephritis, and her brother had hypocomplementemia without urinary abnormalities. DNA analysis revealed heterozygosity for CFB p.S367R in the patient, mother and brother. Evaluation of the structure-function relationship supports that this mutation has gain-of-function effects in CFB. The present case suggests that CFB has an important role in the etiology of C3GN and provides a new insight into anticomplement therapy approaches.
我们报告首例与补体因子B（CFB）基因突变相关的家族性C3肾小球肾炎（C3GN）病例。一名12岁女孩经活检确诊为C3GN。她的母亲有膜增生性肾小球肾炎治疗史，她的哥哥有低补体血症但无泌尿系统异常。DNA分析显示患者、母亲和哥哥的CFB p.S367R存在杂合性。对结构-功能关系的评估支持该突变在CFB中具有功能获得性效应。本病例表明CFB在C3GN的病因学中起重要作用，并为抗补体治疗方法提供了新的见解。
