Division of Pediatric Nephrology, SUNY Downstate Medical Center, Brooklyn, NY 11203, USA.
Pediatr Nephrol. 2010 May;25(5):947-51. doi: 10.1007/s00467-009-1415-3. Epub 2010 Jan 27.
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.
我们报告了一例诊断为补体因子 B（CFB）基因突变的非典型溶血尿毒综合征（aHUS）的 8 岁女孩。aHUS 是一种补体失调疾病。约 50%的患者中，基因编码补体调节因子-H（CFH）、膜辅蛋白或补体因子 I（CFI）的抑制剂或补体因子 B（CFB）或 C3 的激活剂的基因突变。该患者的突变发生在 CFB 的外显子 12 中，将第 533 位氨基酸的赖氨酸突变为精氨酸（c.1598A>G p.Lys533Arg）。先前报道的与 aHUS 相关的 CFB 中的另外两个突变是外显子 6 中的 c.858C>G，p.F286L 和外显子 7 中的 c.967A>G p.K323E。
