The podocin mutation R229Q and early recurrence (within the first year) of glomerular disease after renal transplantation

Annals of Transplantation

Volumn 18, Issue 1, 2013, Pages 436-442

  Mohey, Hesham ^a   Thibaudin, Lise ^a   Laurent, Blandine ^a   Berthoux, Francois ^a  

^a UNIVERSITY HOSPITAL OF SAINT ETIENNE   (France)

Author keywords

Focal Segmental Glomerulosclerosis (FSGS); Gene; Glomerulonephritis; IgA nephropathy; Podocin; Polymorphism; Recurrence; Renal transplantation

Indexed keywords

PODOCIN;

ADULT; ALLELE; ARTICLE; DNA POLYMORPHISM; FEMALE; GENE MUTATION; GENETIC VARIABILITY; GLOMERULOPATHY; GRAFT SURVIVAL; HUMAN; IMMUNOGLOBULIN A NEPHROPATHY; KIDNEY TRANSPLANTATION; MAJOR CLINICAL STUDY; MALE; POLYMERASE CHAIN REACTION; PROTEINURIA; RECURRENT DISEASE; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RETROSPECTIVE STUDY;

ADULT; AGED; FEMALE; GENE FREQUENCY; GENOTYPE; GLOMERULONEPHRITIS; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; KIDNEY DISEASES; KIDNEY TRANSPLANTATION; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MUTATION; NEPHROTIC SYNDROME; POLYMORPHISM, GENETIC; PROTEINURIA; RECURRENCE; RETROSPECTIVE STUDIES; TREATMENT OUTCOME;

EID: 84887236066     PISSN: 14259524     EISSN: None     Source Type: Journal    
DOI: 10.12659/AOT.884003     Document Type: Article

References (28)

1. Chadban SJ: Glomerulonephritis recurrence in the renal graft. J Am Soc Neph, 2001; 12: 394-402
2. Hariharan S, Peddi VR, Savin VJ et al: Recurrent and de novo renal diseases after renal transplantation: A report from the renal allograft disease registry. Am J Kidney Dis, 1998; 31: 928-31
3. Tejani A, Stablein DH: Recurrence of focal segmental glomerulosclerosis post-transplantation: a special report of the North American Pediatric Renal Transplant Cooperative Study. J Am Soc Neph, 1992; 2: S258-63
4. Ponticelli C, Glassock RJ: Posttransplant recurrence of primary glomerulonephritis. Clin J Am Soc Nephrol, 2010; 5: 2363-72
5. Ponticelli C: Recurrence of focal segmental glomerulosclerosis (FSGS) after renal transplantation. Nephrol Dial Transplant, 2010; 25: 25-31
6. Briganti EM, Russ GR, McNeil JJ et al: Risk of renal allograft loss from recurrent glomerulonephritis. N Engl J Med, 2002; 11: 103-9
7. 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: 2155-58
8. Schwarz K, Simons M, Reiser J et al: Podocin, a raft-associated component of the glomerular slit diaphragm, interacts with CD2AP and nephrin. J Clin Invest, 2001; 108: 1621-29
9. Boute N, Roselli S, Gribouval O et al: Podocine et syndromes néphrotiques cortico-résistants. Actualités Néphrologiques, Hopital Necker, Flammarion Medecine-Sciences Ed., 2001; 211-18 [in French]
10. 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; 11: 1659-66
11. Rood IM, Deegens JKJ, Wetzels JFM: Genetic causes of focal segmental glomerulosclerosis: implications for clinical practice. Nephrol Dial Transplant, 2012; 27: 882-90
12. Franceschini N, North KE, Kopp JB et al: NPHS2 gene, nephrotic syndrome and focal segmental glomerulosclerosis: a HuGE review. Genet Med, 2006; 8: 63-75
13. Pereira AC, Pereira AB, Mota GF et al: NPHS2 R229Q functional variant is associated with micro-albuminuria in the general population. Kidney Int, 2004; 65(3): 1026-30
14. Berthoux F, El Deeb S, Mariat C et al: Antithymocyte globulin (ATG) induction therapy and disease recurrence in renal transplant recipients with primary IgA nephropathy. Transplantation, 2008; 85: 1505-7
15. Kamal Aziz A, Mousson C, Berthoux F et al: Renal transplantation outcome in selected recipients with IgA nephropathy as native disease: a bicentric study. Ann Transplant, 2012; 17: 45-51
16. Mundel P, Shankland SJ: Podocyte biology and response to injury. J Am Soc Nephrol, 2002; 13: 3005-15
17. Tryggvason K, Patrakka J, Wartiovaara J: Hereditary Proteinuria Syndromes and Mechanisms of Proteinuria. N Engl Med, 2006; 354: 1387-401
18. Bertelli R, Ginevri F, Caridi G et al: Recurrence of focal segmental glomerulosclerosis after renal transplantation in patients with mutations of podocine. Am J Kidney Dis, 2003; 41: 1314-21
19. 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: 722-32
20. 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: 571-79
21. Weber S, Tönshoff B: Recurrence of focal-segmental glomerulosclerosis, in children after renal transplantation: clinical and genetic aspects. Transplantation, 2005; 80: 128-34
22. Jungraithmayr TC, Hofer K, Cochat P et al: Screening for NPHS2 mutations may help predict FSGS recurrenc after transplantation. J Am Soc Nephrol, 2011; 22: 579-85
23. Dall'Amico R, Ghiggeri G, Carraro M et al: Prediction and treatment of recurrent focal segmental glomerulosclerosis after renal transplantation in children. Am J Kidney Dis, 1999; 34: 1048-55
24. Carraro M, Caridi G, Bruschi M et al: Serum glomerular permeability activity in patients with podocin mutations (NPHS2) and steroidresistant nephrotic syndrome. J Am Soc Nephrol, 2002; 13: 1946-52
25. Becker-Cohen R, Brushi M, Rinat C et al: Recurrent nephrotic syndrome in homozygous truncating NPHS2 mutation is not due to antipodocin antibodies. Am J Transplant, 2007; 7: 256-60
26. Wei C, El Hindi S, Li J et al: Circulating urokinase receptor as a cause of focal segmental glomerulosclerosis. Nat Med, 2011; 17: 952-60
27. Wei C, Trachtman H, Li J et al., PodoNet and FSGS CT Study Consortia: Circulating suPAR in two cohorts of primary FSGS. J Am Soc Nephrol, 2012; 23: 2051-59
28. Canaud G, Dion D, Zuber J et al: Recurrence of nephrotic syndrome after transplantation in a mixed population of children and adults: course of glomerular lesions and value of the Columbia classification of histological variants of focal and segmental glomerulosclerosis (FSGS). Nephrol Dial Transplant, 2010; 25: 1321-28