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Pediatr Nephrol. 2010 May;25(5):947-51. doi: 10.1007/s00467-009-1415-3. Epub 2010 Jan 27.

A novel mutation in the complement factor B gene (CFB) and atypical hemolytic uremic syndrome.

Author information

1
Division of Pediatric Nephrology, SUNY Downstate Medical Center, Brooklyn, NY 11203, USA. gorgyraafat@msn.com

Abstract

We report the case of an 8-year-old girl diagnosed with atypical hemolytic uremic syndrome (aHUS) with a complement factor B (CFB) gene mutation. aHUS is a disease of complement dysregulation. In approximately 50% of patients, mutations are identified in genes encoding regulators of complement-complement factor H (CFH), membrane cofactor protein or complement factor I (CFI)-or activators of complement-complement factor B (CFB) or C3. The mutation in this patient was identified in exon 12 of CFB and changes a lysine at amino acid position 533 to an arginine (c.1598A>G p.Lys533Arg). The two other mutations previously reported in CFB associated with aHUS are c.858C>G, p.F286L in exon 6 and c.967A>Gp.K323E in exon 7.

PMID:
20108004
DOI:
10.1007/s00467-009-1415-3
[Indexed for MEDLINE]

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