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鳃-耳-肾综合征一例 被引量:5

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摘要 患儿 女,11岁,因“蛋白尿40d、间断浮肿20d”于2005年2月28日入院。入院前40d,因发热、咳嗽当地医院拟诊“支气管炎”给予抗炎对症治疗,查血、尿常规发现中度贫血(Hb 69g/L)和蛋白尿(尿蛋白++)。入院前20d,患儿出现眼睑及双下肢轻度水肿,查全血生化:肌酐456.1μmol/L、尿素氨29.3mmol/L、尿酸667.9μmol/L,Ca1.91mmol/L,P2.44mmol/L、HCO3^- 13.7mmol/L。血IgG、IgA、IgM、C3、抗链O、类风湿因子、C反应蛋白及心电图均无异常。经口服利尿药、中药治疗(具体不详),浮肿消退,为进一步诊治入我院。
作者 张瑾 姚勇
出处 《中华儿科杂志》 CAS CSCD 北大核心 2006年第9期704-706,共3页 Chinese Journal of Pediatrics
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参考文献11

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同被引文献33

  • 1Fraser FC, Sproule JR, Halal F. Frequency of the branchio-otorenal(BOR) syndrome in children with profound hearing loss. Am J Med Genet, 1980, 7 : 341-349.
  • 2Melnick M, Bixler D, Silk K, et al. Autosomal dominant branchiootorenal dysplasia. Birth Defects Orig Attic Ser, 1975, 11 : 121-128.
  • 3Smith RJ, Coppage KB, Ankerstjerne JK, et al. Localization of the gene for branchiootorenal syndrome to chromosome 8q. Genomics, 1992, 14: 841-844.
  • 4Kumar S, Kimberling WJ, Kenyon JB, et al. Autosomal dominant branchio-oto-renal syndrome-localization of a disease gene to chromosome 8q by linkage in a Dutch family. Hum Mol Genet, 1992, 1 : 491-495.
  • 5Abdelhak S, Kalatzis V, Heilig R, et al. A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family. Nat Genet, 1997, 15: 157-164.
  • 6Propst E J, Blaser S, Gordon KA, et al. Temporal bone findings on computed tomography imaging in branchio-oto-renal syndrome. Laryngoscope, 2005, 115 : 1855-1862.
  • 7Kemperman MH, Koch SM, Kumar S, et al. Evidence of progression and fluctuation of hearing impairment in branchio-oto- renal syndrome. Int J Audiol, 2004, 43 : 523-532.
  • 8Chang EH, Menezes M, Meyer NC, et al. Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences. Hum Mutat, 2004, 23: 582-589.
  • 9Ruf RG, Berkman J, Wolf MT, et al. A gene locus for branchio- otic syndrome maps to chromosome 14q21.3-q24.3. J Med Genet, 2003, 40: 515-519.
  • 10Ruf RG, Xu PX, Silvius D, et al. SIX1 mutations cause branchiooto-renal syndrome by disruption of EYA1-SIX1-DNA complexes. Proc Natl Acad Sci U S A, 2004, 101 : 8090-8095.

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