Familial C3 glomerulonephritis associated with mutations in the gene for complement factor B
Familial C3 glomerulonephritis associated with mutations in the gene for complement factor B
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DOI：
10.1093/ndt/gfv054
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发表时间：
2015-05-01
影响因子：
6.1
通讯作者：
Nunoi, Hiroyuki
中科院分区：
文献类型：
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作者：
Imamura, Hideaki;Konomoto, Takao;Nunoi, Hiroyuki
我们报告了第一例与补体因子 B (CFB) 基因突变相关的家族性 C3 肾小球肾炎 (C3GN) 病例。一名 12 岁女孩被诊断患有经活检证实的 C3GN。其母亲有膜增生性肾小球肾炎治疗史，弟弟有低补体血症，无泌尿系统异常。 DNA 分析显示患者、母亲和兄弟的 CFB p.S367R 存在杂合性。结构-功能关系的评估支持该突变在 CFB 中具有功能获得效应。本病例表明 CFB 在 C3GN 的病因学中具有重要作用，并为抗补体治疗方法提供了新的见解。
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.