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家族性局灶节段性肾小球硬化一家系报告及文献复习 被引量：3

Familial focal segmental glomerulosclerosis: a case report and review of the literature
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摘要 目的探讨家族性局灶节段性肾小球硬化(FFSGS)的临床特点、诊断、治疗及预后。方法结合1个FFSGS家系临床资料进行文献复习,分析该病临床特点、诊断、鉴别诊断、发病机制、治疗及预后。结果家谱分析可提示遗传类型;诊断主要依据病理,病理早期为局灶性、节段性改变,晚期为弥漫性、球性改变;免疫抑制治疗效果差。结论FFSGS是一种罕见的遗传性疾病,预后差。
作者 李国民 卢思广 王凤英 沈棋 朱海涛 李玉勤
机构地区 江苏大学附属医院儿科 徐州医学院附属医院儿科 山东省泰安市中心医院儿科
出处 《临床儿科杂志》 CAS CSCD 北大核心 2007年第4期281-283,305,共4页 Journal of Clinical Pediatrics
关键词 家族性局灶节段性肾小球硬化 临床特征 诊断 预后 familial focal segmental glomerulosclemsis clinical manifestations diagnosis prognosis
分类号 R726.9 [医药卫生—儿科]
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参考文献14

  • 1Perkoff GT.The hereditary renal disease[J].N Engl J Med,1967,277 (3):129-138.
  • 2Tejani A,Nicastri A,Phadke K,et al.Familial focal segmental glomerulosclerosis[J].Int J Pediatr Nephrol,1983,4 (4):231-234.
  • 3Mathis SH,Beverly J,Kim KC,et al.A locus for inherited focal segmental glomerulosclerosis maps to chromosome 19q13[J].Kidney Int,1998,53 (2):282-286.
  • 4Winn MP,Conlon PJ,Lynn KL,et al.Linkage of a gene causing familial focal segmental glomerulosclerosis to chromosome 11 and further evidence of genetic heterogeneity[J].Genomics,1999,58 (2):113-120.
  • 5Fuchshuber A,Jean G,Gribouval O,et al.Mapping a gene (SRN1) to chromosome 1q25-q31 in idiopathic nephrotic syndrome confirms a distinct entity of autosomal recessive nephrosis[J].Hum Mol Genet,1995,11 (4):2155-2158.
  • 6Martin R,Patricia F,Pollak MR,et al.A locus for adolescent and adult onset familial focal segmental glomerulosclerosis on chromosome 1q25-31[J].J Am Soc Nephrol,2000,11 (9):1674-1680.
  • 7Gusmano R,Mazzucco G,Monga G.Focal and segmental glomerulosclerosis (FSGS):clinical,morphological and genetic features[J].J Nephrol,2004,17 (3):139-157.
  • 8Peter J,Conlon KL,Michelle P,et al.Spectrum of disease in familial focal and segmental glomerulosclerosis[J].Kidney Int,1999,56 (11):1863-1871.
  • 9Kaplan JM,Kim SH,North KN,et al.Mutations in ACTN4,encoding α-actinin-4,cause focal segmental glomerulosclerosis[J].Nat Genet,2000,24 (3):251-256.
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同被引文献19

  • 1Fuchshuber A,Jean G,Gribouval O,et al.Mapping a gene (SRN1) to chromosome 1q25-q31 in idiopathic nephrotic syndrome confirms a distinct entity of autosomal recessive nephrosis[J].Hum Mol Genet,1995,11(4):2155-2158.
  • 2Martin R,Patricia F,Pollak MR,et al.A locus for adolescent and adult onset familial focal segmental glomerulosclerosis on chromosome 1q25-31[J].J Am Soc Nephrol,2000,11(9):1674-1680.
  • 3Michelle P,Winn MP.Approach to the evaluation of heritable diseases and update on familial focal segmental glomerulosclerosis[J].Nephrol Dial Transplant,2003,18(6):4-20.
  • 4U.S.Renal Data System.USRDS2000 Annal Data Report[R].Bethesda:The National Institutes of health,NIDDK,2000.
  • 5Chandra M,Mouradian J,Hoyer JR,et al.Familial nephritic syndrome and focal segmental glomerulosclerosis[J].J Pediatr,1981,98(4):467-469.
  • 6Conlon PJ,Butterly D,Albers F,et al.Cilinical and pathologic features of familial focal segmental glomerulosclerosis[J].Am J Kidney Dis,1995,26(1):34-40.
  • 7Peter D,Yorgin ND,Steve R,et al.Pulse methylprednisolone,cyclospor-ine,and ACE inhibitor therapy decreases proteinuria in two siblings with focal segmental[J].Am J Kidney Dis,2001,37(1):1-6.
  • 8Peter J,Conlon KL,Michelle P,et al.Spectrum of disease in familial focal and segmental glomerulosclerosis[J].Kidney Int,1999,56(11):1863-1871.
  • 9Niaudet P.Genetic forms of nephrotic syndrome[J].Pediatr Nephrol,2004,19(12):1313-1318.
  • 10Mathis SH,Beverly J,Kim KC,et al.A locus for inherited focal segmental glomerul-osclerosis maps to chromosome 19q13[J].Kidney Int,1998,53:282-286.

引证文献3

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临床儿科杂志
2007年 第4期

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