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激素耐药型肾病综合征的分子遗传学基础

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摘要 原发性肾病综合征（primary nephrotic syndrome，PNS）是儿童时期最常见的肾小球疾病。10％～20％的PNS患儿对激素耐药，即激素耐药型肾病综合征（steroid-resistant nephrotic syndrome，SRNS）；大部分SRNS患儿将逐渐进展到终末期肾病（ESRD）^[1-2]。近年来，肾脏病分子遗传学研究证实8个不同的单基因^[3-10]-NPHS1、NPHS2、 PLCE1、CD2AP、ACTN4、TRPC6、WT1和LAMB2突变可引起SRNS。本文简述这8个基因及其突变引起的SRNS的临床病理特点，以加深临床医生对SRNS分子遗传学基础的认识。
作者 余自华
机构地区 南京军区福州总医院儿科
出处 《临床肾脏病杂志》 2008年第8期343-345,共3页 Journal Of Clinical Nephrology
基金 福建省自然科学基金计划资助项目（编号：2006J0119） 南京军区医学科学技术研究“十一五”计划课题项目（编号：06MA148）
关键词 激素耐药型肾病综合征 分子遗传学基础 原发性肾病综合征 SRNS 临床病理特点 肾小球疾病 终末期肾病 NPHS2
分类号 R726.92 [医药卫生—儿科] R584.210.5 [医药卫生—内分泌]
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参考文献26

  • 1Ruf RG, Lichtenberger A, Karle SM, et al. Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of ne phrotic syndrome. J Am Soc Nephrol, 2004, 15 : 722-732.
  • 2Weber S,Gribouval O,Esquivel EL et al. NPHS2 mutation analysis shows genetic heterogeneity of steroid resistant nephrotic syndrome and low post transplant recurrence. Kidney lnt, 2004. 66: 571-579.
  • 3Kestila M, Lenkkeri U, Mannikko M. et al. Positionally cloned gene for a novel glomerular prolem nephrin is mutated in congenital nephrotic syndrome. Mol Cell. 1998, 1: 575-582.
  • 4Boute N,Gribouval O, Roselli S, et al. NPHS2 , encoding the glomerular protein podocin, is mutated in autosomat recessive ster oid-resistant nephrotic syndrome. Nat Genet.2000.24:349-354.
  • 5Hinkes B, Wiggins RC Gbadegesin R. et al. Positional cloning uncovers mutations in PLCEI responsible for a nephrotic syndrome variant that may be reversible. Nat Genet, 2006,38 : 1397-1405.
  • 6Kim JM, Wu H, Green G, et al. CD2 associated protein haploinsufficiency is linked to glomerular disease susceptibility. Science 2003,300: 1298--1300.
  • 7Kaplan JM Kim Sit,North KN,et al. Mutations inACTN4 ,encoding alpha actinin 4, cause familial focal segmental glomerulosclerosis. Nat Genet, 2000 24 : 251-256.
  • 8Reiser J, Polu KR, Mller CC, et al. TRPC6 is a glomerular slit diaphragm associated channel required for normal renal function. Nat Genet,2005,37: 739-744.
  • 9Ruf RG, Schultheiss M, Lichtenberger A, et al. Prevalence of WTI mutations in a large cohort of patients with steroid-resistant and ster oid sensitive nephrotic syndrome. Kidney Int,2004,66: 564-570.
  • 10Zenker M, Aigncr T, Wendler O, et al. Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities. Hum Mol Genet, 2004,13: 2625-2632.

二级参考文献33

  • 1余自华,丁洁,黄建萍,姚勇,肖慧捷,张敬京,刘景城,杨霁云.散发性儿童激素耐药型肾病综合征NPHS2基因突变[J].中华肾脏病杂志,2004,20(6):413-417. 被引量：15
  • 2Weber S, Gribouval O, Esquivel EL, et al. NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence. Kidney Int, 2004,66 :571-579.
  • 3Caridi G, Berdeli A, Dagnino M, et al. Infantile steroid-resistantnephrotic syndrome associated with double homozygous mutations of podocin. Am J Kidney Dis, 2004, 43: 727-732.
  • 4Fuchshuber A, Jean G, Gribouval O, et al. Mapping a gene(SRNI) to chromosome 1q25-q31 in idiopathic nephrotic syndrome cortfirms a distinct entity of autosomal recessive nephrosis. Hum Mol Genet, 1995, 4 : 2155-2158.
  • 5Katie SM, Uetz B, Ronner V, et al. Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome. J Am Sec Nephrol ,2002, 13: 388-393.
  • 6Caridi G, Bertelli R, C-arrea A, et al. Prevalence, genetics, and clinical features of patients carrying podocin mutations in steroidresistant nonfamilial focal segmental glomerulosclerosis. J Am Soc Nephrol ,2001, 12: 2742-2746.
  • 7Ruf RG, Lichtenberger A, Katie SM, et al. Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome. J Am Soc Nephrol, 2004,15:722-732.
  • 8Boute N, Gribouval O, Roselli S, et al. NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroidresistant nephrotic syndrome. Nat Genet, 2000, 24: 349-354.
  • 9Frishberg y, Rinat C, Megged O, et al. Mutations in NPHS2 encoding podocin are a prevalent cause of steroid-resistant nephrotic syndrome among Israeli-Arab children. J Am Soc Nephrol, 2002,13 : 400-405.
  • 10Koziell A, Grech V, Hussain S, et al. Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration. Hum Mol Genet ,2002, 11: 379-388.

共引文献34

临床肾脏病杂志
2008年 第8期

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