title: Familial C3 glomerulonephritis associated with mutations in the gene for complement factor B.
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.
authors.affiliation: 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.
authors.forename: Hideaki
authors.initials: H
authors.lastname: Imamura
authors.affiliation: 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.
authors.forename: Takao
authors.initials: T
authors.lastname: Konomoto
authors.affiliation: Division of Pediatrics, Department of Reproductive and Developmental Medicine, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan.
authors.forename: Etsuko
authors.initials: E
authors.lastname: Tanaka
authors.affiliation: Department of Pathology, Faculty of Medicine, Fukuoka University, Fukuoka, Japan.
authors.forename: Satoshi
authors.initials: S
authors.lastname: Hisano
authors.affiliation: Department of Blood Transfusion Medicine, Nara Medical University, Nara, Japan.
authors.forename: Yoko
authors.initials: Y
authors.lastname: Yoshida
authors.affiliation: Department of Blood Transfusion Medicine, Nara Medical University, Nara, Japan.
authors.forename: Yoshihiro
authors.initials: Y
authors.lastname: Fujimura
authors.affiliation: Department of Molecular Pathogenesis, National Cerebral and Cardiovascular Center, Osaka, Japan.
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Miyata
authors.affiliation: Division of Pediatrics, Department of Reproductive and Developmental Medicine, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan.
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Nunoi
mesh_terms: D000293:Adolescent; D001706:Biopsy; D002648:Child; D011415:Complement Factor B / Q000235:genetics*; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D005921:Glomerulonephritis / Q000235:genetics; D015432:Glomerulonephritis, Membranoproliferative / Q000235:genetics*; D006417:Hematuria / Q000175:diagnosis; D006579:Heterozygote; D006801:Humans; D007668:Kidney / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011507:Proteinuria / Q000175:diagnosis
chemical_list: D011415:Complement Factor B
keywords: C3 glomerulonephritis; complement alternative pathway; complement factor B; genetic mutation