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Nephrol Dial Transplant. 2015 May;30(5):862-4. doi: 10.1093/ndt/gfv054. Epub 2015 Mar 10.

Familial C3 glomerulonephritis associated with mutations in the gene for complement factor B.

Author information

1
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.
2
Division of Pediatrics, Department of Reproductive and Developmental Medicine, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan.
3
Department of Pathology, Faculty of Medicine, Fukuoka University, Fukuoka, Japan.
4
Department of Blood Transfusion Medicine, Nara Medical University, Nara, Japan.
5
Department of Molecular Pathogenesis, National Cerebral and Cardiovascular Center, Osaka, Japan.

Abstract

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.

KEYWORDS:

C3 glomerulonephritis; complement alternative pathway; complement factor B; genetic mutation

PMID:
25758434
DOI:
10.1093/ndt/gfv054
[Indexed for MEDLINE]

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