1,516
Views
2
CrossRef citations to date
0
Altmetric
Laboratory Study

The amino acid mutations of the podocin in proteinuria: a meta-analysis

, , , , , , & show all
Pages 1329-1337 | Received 07 Jan 2015, Accepted 20 Jun 2015, Published online: 27 Jul 2015

References

  • Short versus standard prednisone therapy for initial treatment of idiopathic nephrotic syndrome in children. Arbeitsgemeinschaft fur Padiatrische Nephrologie. Lancet. 1988;1(8582):380–383
  • Primary nephrotic syndrome in children: Clinical significance of histopathologic variants of minimal change and of diffuse mesangial hypercellularity. A Report of the International Study of Kidney Disease in Children. Kidney Int. 1981;20(6):765–771
  • Fuchshuber 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. Hum Mol Genet. 1995;4(11):2155–2158
  • Machuca E, Benoit G, Nevo F, et al. Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome. J Am Soc Nephrol. 2010;21(7):1209–1217
  • Machuca E, Benoit G, Antignac C. Genetics of nephrotic syndrome: Connecting molecular genetics to podocyte physiology. Hum Mol Genet. 2009;18(R2):R185–R194
  • Holmberg C, Jalanko H. Congenital nephrotic syndrome and recurrence of proteinuria after renal transplantation. Pediatr Nephrol. 2014;29(12):2309–2317
  • Boute N, Gribouval O, Roselli S, et al. NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. Nat Genet. 2000;24(4):349–354
  • Caridi G, Bertelli R, Carrea A, et al. Prevalence, genetics, and clinical features of patients carrying podocin mutations in steroid-resistant nonfamilial focal segmental glomerulosclerosis. J Am Soc Nephrol. 2001;12(12):2742–2746
  • Volker LA, Schurek EM, Rinschen MM, et al. Characterization of a short isoform of the kidney protein podocin in human kidney. BMC Nephrol. 2013;14:102
  • Roselli S, Heidet L, Sich M, et al. Early glomerular filtration defect and severe renal disease in podocin-deficient mice. Mol Cell Biol. 2004;24(2):550–560
  • McCarthy HJ, Bierzynska A, Wherlock M, et al. Simultaneous sequencing of 24 genes associated with steroid-resistant nephrotic syndrome. Clin J Am Soc Nephrol. 2013;8(4):637–648
  • Buscher AK, Kranz B, Buscher R, et al. Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome. Clin J Am Soc Nephrol. 2010;5(11):2075–2084
  • Chernin G, Heeringa SF, Gbadegesin R, et al. Low prevalence of NPHS2 mutations in African American children with steroid-resistant nephrotic syndrome. Pediatr Nephrol. 2008;23(9):1455–1460
  • Zhong C, Zhang Y, Sun J. Acupuncture and acupoint injection for 68 cases of chronic pharyngitis. Zhongguo Zhen Jiu. 2012;32(10):946
  • Li J, Ding J, Zhao D, et al. WT1 gene mutations in Chinese children with early onset nephrotic syndrome. Pediatr Res. 2010;68(2):155–158
  • Yu Z, Ding J, Huang J, et al. Mutations in NPHS2 in sporadic steroid-resistant nephrotic syndrome in Chinese children. Nephrol Dial Transpl. 2005;20(5):902–908
  • Wu MC, Wu JY, Lee CC, Tsai CH, Tsai FJ. Two novel polymorphisms (c954T > C and c1038A > G) in exon8 of NPHS2 gene identified in Taiwan Chinese. Hum Mutat. 2001;17(3):237
  • Kawashima M, Wada K, Ohta H, Terawaki H, Aizawa Y. Association between asymptomatic hyperuricemia and new-onset chronic kidney disease in Japanese male workers: A long-term retrospective cohort study. BMC Nephrol. 2011;12:31
  • Sako M, Nakanishi K, Obana M, et al. Analysis of NPHS1, NPHS2, ACTN4, and WT1 in Japanese patients with congenital nephrotic syndrome. Kidney Int. 2005;67(4):1248–1255
  • Maruyama K, Iijima K, Ikeda M, et al. NPHS2 mutations in sporadic steroid-resistant nephrotic syndrome in Japanese children. Pediatr Nephrol. 2003;18(5):412–416
  • Cho HY, Lee JH, Choi HJ, et al. WT1 and NPHS2 mutations in Korean children with steroid-resistant nephrotic syndrome. Pediatr Nephrol. 2008;23(1):63–70
  • Wang XW, Ni DF. Gastroesophageal reflux and chronic pharyngitis. Zhonghua Er Bi Yan Hou Ke Za Zhi. 2004;39(1):55–58
  • Mollet G, Ratelade J, Boyer O, et al. Podocin inactivation in mature kidneys causes focal segmental glomerulosclerosis and nephrotic syndrome. J Am Soc Nephrol. 2009;20(10):2181–2189
  • Carraro M, Caridi G, Bruschi M, et al. Serum glomerular permeability activity in patients with podocin mutations (NPHS2) and steroid-resistant nephrotic syndrome. J Am Soc Nephrol. 2002;13(7):1946–1952
  • Gbadegesin R, Hinkes B, Vlangos C, et al. Mutational analysis of NPHS2 and WT1 in frequently relapsing and steroid-dependent nephrotic syndrome. Pediatr Nephrol. 2007;22(4):509–513
  • Tonna SJ, Needham A, Polu K, et al. NPHS2 variation in focal and segmental glomerulosclerosis. BMC Nephrol. 2008;9:13
  • Santin S, Tazon-Vega B, Silva I, et al. Clinical value of NPHS2 analysis in early- and adult-onset steroid-resistant nephrotic syndrome. Clin J Am Soc Nephrol. 2011;6(2):344–354
  • Ardiles LG, Carrasco AE, Carpio JD, Mezzano SA. Late onset of familial nephrotic syndrome associated with a compound heterozygous mutation of the podocin-encoding gene. Nephrology (Carlton). 2005;10(6):553–556
  • Dincel N, Mir S, Berdeli A, Bulut IK, Sozeri B. Does NPHS1 polymorphism modulate P118l mutation in NPHS2? Saudi J Kidney Dis Transpl. 2013;24(6):1210–1213
  • Kang J, Brant R, Ghali WA. Statistical methods for the meta-analysis of diagnostic tests must take into account the use of surrogate standards. J Clin Epidemiol. 2013;66(5):566.e1–574.e1
  • Tsukaguchi H, Sudhakar A, Le TC, et al. NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele. J Clin Invest. 2002;110(11):1659–1666
  • Kerti A, Csohany R, Wagner L, Javorszky E, Maka E, Tory K. NPHS2 homozygous p.R229Q variant: Potential modifier instead of causal effect in focal segmental glomerulosclerosis. Pediatr Nephrol. 2013;28(10):2061–2064
  • Kottgen A, Hsu CC, Coresh J, et al. The association of podocin R229Q polymorphism with increased albuminuria or reduced estimated GFR in a large population-based sample of US adults. Am J Kidney Dis. 2008;52(5):868–875
  • Lu L, Wan H, Yin Y, et al. The p.R229Q variant of the NPHS2 (podocin) gene in focal segmental glomerulosclerosis and steroid-resistant nephrotic syndrome: A meta-analysis. Int Urol Nephrol. 2014;46(7):1383–1393
  • Santin S, Tazon-Vega B, Silva I, et al. Clinical value of NPHS2 analysis in early- and adult-onset steroid-resistant nephrotic syndrome. Clin J Am Soc Nephrol. 2011;6(2):344–354
  • Tory K, Menyhard DK, Woerner S, et al. Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome. Nat Genet. 2014;46(3):299–304
  • Bouchireb K, Boyer O, Gribouval O, et al. NPHS2 mutations in steroid-resistant nephrotic syndrome: A mutation update and the associated phenotypic spectrum. Hum Mutat 2014;35(2):178–186
  • Jungraithmayr TC, Hofer K, Cochat P, et al. Screening for NPHS2 mutations may help predict FSGS recurrence after transplantation. J Am Soc Nephrol. 2011;22(3):579–585
  • Furue T, Hattori M, Tsukaguchi H, et al. Clinical features and mutational survey of NPHS2 (podocin) in Japanese children with focal segmental glomerulosclerosis who underwent renal transplantation. Pediatr Transpl. 2008;12(3):341–346
  • Ruf RG, Lichtenberger A, Karle 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(3):722–732
  • Mishra OP, Kakani N, Singh AK, et al. NPHS2 R229Q polymorphism in steroid resistant nephrotic syndrome: Is it responsive to immunosuppressive therapy? J Trop Pediatr. 2014;60(3):231–237
  • Berdeli A, Mir S, Yavascan O, et al. NPHS2 (podicin) mutations in Turkish children with idiopathic nephrotic syndrome. Pediatr Nephrol. 2007;22(12):2031–2040
  • Al-Hamed MH, Al-Sabban E, Al-Mojalli H, et al. A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian families. J Hum Genet. 2013;58(7):480–489
  • McKenzie LM, Hendrickson SL, Briggs WA, et al. NPHS2 variation in sporadic focal segmental glomerulosclerosis. J Am Soc Nephrol. 2007;18(11):2987–2995
  • Bakr A, Yehia S, El-Ghannam D, et al. NPHS2 mutations. Indian J Pediatr. 2008;75(2):135–138
  • Lahdenkari AT, Suvanto M, Kajantie E, Koskimies O, Kestila M, Jalanko H. Clinical features and outcome of childhood minimal change nephrotic syndrome: Is genetics involved? Pediatr Nephrol. 2005;20(8):1073–1080
  • Jaffer A, Unnisa W, Raju D, Jahan P. NPHS2 mutation analysis and primary nephrotic syndrome in South Indians. Nephrology (Carlton). 2014;19(7):398–403
  • Reiterova J, Safrankova H, Obeidova L, et al. Mutational analysis of the NPHS2 gene in Czech patients with idiopathic nephrotic syndrome. Folia Biol (Praha). 2012;58(2):64–68
  • Lipska BS, Iatropoulos P, Maranta R, et al. Genetic screening in adolescents with steroid-resistant nephrotic syndrome. Kidney Int. 2013;84(1):206–213
  • Abid A, Khaliq S, Shahid S, et al. A spectrum of novel NPHS1 and NPHS2 gene mutations in pediatric nephrotic syndrome patients from Pakistan. Gene. 2012;502(2):133–137
  • Caridi G, Bertelli R, Scolari F, Sanna-Cherchi S, Di Duca M, Ghiggeri GM. Podocin mutations in sporadic focal-segmental glomerulosclerosis occurring in adulthood. Kidney Int. 2003;64(1):365
  • Carrasco-Miranda JS, Garcia-Alvarez R, Sotelo-Mundo RR, Valenzuela O, Islas-Osuna MA, Sotelo-Cruz N. Mutations in NPHS2 (podocin) in Mexican children with nephrotic syndrome who respond to standard steroid treatment. Genet Mol Res. 2013;12(2):2102–2107
  • Koziell 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(4):379–388
  • Chernin G, Heeringa SF, Vega-Warner V, Schoeb DS, Nurnberg P, Hildebrandt F. Adequate use of allele frequencies in Hispanics – A problem elucidated in nephrotic syndrome. Pediatr Nephrol. 2010;25(2):261–266
  • Ozaltin F, Heeringa S, Poyraz CE, et al. Eye involvement in children with primary focal segmental glomerulosclerosis. Pediatr Nephrol. 2008;23(3):421–427
  • Ruf RG, Lichtenberger A, Karle 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(3):722–732
  • Megremis S, Mitsioni A, Mitsioni AG, et al. Nucleotide variations in the NPHS2 gene in Greek children with steroid-resistant nephrotic syndrome. Genet Test Mol Biomarkers. 2009;13(2):249–256
  • Caridi G, Bertelli R, Di Duca M, et al. Broadening the spectrum of diseases related to podocin mutations. J Am Soc Nephrol. 2003;14(5):1278–1286
  • Lowik M, Levtchenko E, Westra D, et al. Bigenic heterozygosity and the development of steroid-resistant focal segmental glomerulosclerosis. Nephrol Dial Transplant. 2008;23(10):3146–3151
  • Santin S, Bullich G, Tazon-Vega B, et al. Clinical utility of genetic testing in children and adults with steroid-resistant nephrotic syndrome. Clin J Am Soc Nephrol. 2011;6(5):1139–1148
  • Karle SM, Uetz B, Ronner V, Glaeser L, Hildebrandt F, Fuchshuber A. Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome. J Am Soc Nephrol. 2002;13(2):388–393
  • Kerti A, Csohany R, Szabo A, et al. NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome. Pediatr Nephrol. 2013;28(5):751–757
  • Caridi G, Gigante M, Ravani P, et al. Clinical features and long-term outcome of nephrotic syndrome associated with heterozygous NPHS1 and NPHS2 mutations. Clin J Am Soc Nephrol. 2009;4(6):1065–1072
  • Laurin LP, Lu M, Mottl AK, Blyth ER, Poulton CJ, Weck KE. Podocyte-associated gene mutation screening in a heterogeneous cohort of patients with sporadic focal segmental glomerulosclerosis. Nephrol Dial Transplant. 2014;29:2062–2069
  • Lipska BS, Balasz-Chmielewska I, Morzuch L, et al. Mutational analysis in podocin-associated hereditary nephrotic syndrome in Polish patients: Founder effect in the Kashubian population. J Appl Genet. 2013;54(3):327–333
  • Ismaili K, Pawtowski A, Boyer O, Wissing KM, Janssen F, Hall M. Genetic forms of nephrotic syndrome: A single-center experience in Brussels. Pediatr Nephrol. 2009;24(2):287–294
  • Hinkes B, Vlangos C, Heeringa S, et al. Specific podocin mutations correlate with age of onset in steroid-resistant nephrotic syndrome. J Am Soc Nephrol. 2008;19(2):365–371
  • Hinkes BG, Mucha B, Vlangos CN, et al. Nephrotic syndrome in the first year of life: Two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2). Pediatrics. 2007;119(4):e907–e919
  • Voskarides K, Arsali M, Athanasiou Y, Elia A, Pierides A, Deltas C. Evidence that NPHS2-R229Q predisposes to proteinuria and renal failure in familial hematuria. Pediatr Nephrol. 2012;27(4):675–679
  • Vasudevan A, Siji A, Raghavendra A, Sridhar TS, Phadke KD. NPHS2 mutations in Indian children with sporadic early steroid resistant nephrotic syndrome. Indian Pediatr. 2012;49(3):231–233
  • Buscher AK, Konrad M, Nagel M, et al. Mutations in podocyte genes are a rare cause of primary FSGS associated with ESRD in adult patients. Clin Nephrol. 2012;78(1):47–53
  • Machuca E, Hummel A, Nevo F, et al. Clinical and epidemiological assessment of steroid-resistant nephrotic syndrome associated with the NPHS2 R229Q variant. Kidney Int. 2009;75(7):727–735
  • Kyrieleis HA, Lowik MM, Pronk I, et al. Long-term outcome of biopsy-proven, frequently relapsing minimal-change nephrotic syndrome in children. Clin J Am Soc Nephrol. 2009;4(10):1593–1600
  • Aucella F, De Bonis P, Gatta G, et al. Molecular analysis of NPHS2 and ACTN4 genes in a series of 33 Italian patients affected by adult-onset nonfamilial focal segmental glomerulosclerosis. Nephron Clin Pract. 2005;99(2):c31–c36
  • He N, Zahirieh A, Mei Y, et al. Recessive NPHS2 (Podocin) mutations are rare in adult-onset idiopathic focal segmental glomerulosclerosis. Clin J Am Soc Nephrol. 2007;2(1):31–37
  • Weber 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(2):571–579
  • Bertelli R, Ginevri F, Caridi G, et al. Recurrence of focal segmental glomerulosclerosis after renal transplantation in patients with mutations of podocin. Am J Kidney Dis. 2003;41(6):1314–1321

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.