Expanding the clinical spectrum of congenital nephrotic syndrome caused by NPHS1 mutations

Nephrology Dialysis Transplantation

Volumn 25, Issue 9, 2010, Pages 2837-2839

  Godefroid, Nathalie ^a   Dahan, Karin ^a,b  

^a CLINIQUES UNIVERSITAIRES SAINT LUC   (Belgium)

^b IPG   (Belgium)

Author keywords

congenital nephrotic syndrome; genotypephenotype correlations; NPHS1 gene mutations; steroid and antiproteinuric treatments

Indexed keywords

DIPEPTIDYL CARBOXYPEPTIDASE INHIBITOR; LAMININ BETA 2; MEMBRANE PROTEIN; NEPHRIN; PODOCIN; UBIDECARENONE; UNCLASSIFIED DRUG; WT1 PROTEIN;

CONGENITAL NEPHROTIC SYNDROME; ETHNICITY; FOCAL GLOMERULOSCLEROSIS; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; HUMAN; MISSENSE MUTATION; NONSENSE MUTATION; NOTE; PATHOGENESIS; PRIORITY JOURNAL;

GENOTYPE; HUMANS; MEMBRANE PROTEINS; MUTATION; NEPHROTIC SYNDROME; PHENOTYPE;

EID: 77956246449     PISSN: 09310509     EISSN: 14602385     Source Type: Journal    
DOI: 10.1093/ndt/gfq434     Document Type: Note

References (25)

1. Niaudet P. Genetic forms of nephrotic syndrome. Pediatr Nephrol 2004; 19: 1313-1318
2. Jalanko H. Congenital nephrotic syndrome. Pediatr Nephrol 2009; 11: 2121-2128
3. Zenker M, Machuca E, Antignac C. Genetics of NS: new insights into molecules acting at the glomerular filtration barrier. J Mol Med 2009; 87: 849-857
4. Hinkes BG, Mucha B, Vlangos CN et al. NS 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: 907-919
5. Kestilä M, Lenkkeri U, Männikk M et al. Positionally cloned gene for a novel glomerular protein-nephrin-is mutated in congenital nephrotic syndrome. Mol Cell 1998; 1: 575-582
6. Schultheiss M, Ruf RG, Mucha BE et al. No evidence for genotype/phenotype correlation in NPHS1 and NPHS2 mutations. Pediatr Nephrol 2004; 19: 1340-1348
7. Boute 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
8. Hasselbacher K, Wiggins RC, Matejas V et al. Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders. Kidney Int 2006; 70: 1008-1012
9. Schumacher V, Schärer K, Wühl E et al. Spectrum of early onset nephrotic syndrome associated with WT1 missense mutations. Kidney Int 1998; 53: 1594-1600
10. Zenker M, Aigner 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
11. Hinkes B, Wiggins RC, Gbadegesin R et al. Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible. Nat Genet 2006; 38: 1397-1405
12. Diomedi-Camassei F, Di Giandomenico S, Santorelli FM et al. COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement. J Am Soc Nephrol 2007; 18: 2773-2780
13. Schoeb DS, Chernin G, Heeringa SF et al. Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS). Nephrol Dial Transplant 2010
14. Beltcheva O, Martin P, Lenkkeri U et al. Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome. Hum Mutat 2001; 17: 368-373
15. Philippe A, Nevo F, Esquivel EL et al. Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome. J Am Soc Nephrol 2008; 19: 1871-1878
16. Tryggvason K, Patrakka J, Wartiovaara J. Hereditary proteinuria syndromes and mechanisms of proteinuria. N Engl J Med 2006; 354: 1387-1401
17. Liu G, Kaw B, Kurfis J et al. Neph1 and nephrin interaction in the slit diaphragm is an important determinant of glomerular permeability. J Clin Invest 2003; 112: 209-221
18. Liu L, Doné SC, Khoshnoodi J et al. Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: insight into the mechanisms of congenital nephrotic syndrome. Hum Mol Genet 2001; 10: 2637-2644
19. Heeringa SF, Vlangos CN, Chernin G et al. Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome. Nephrol Dial Transplant 2008; 23: 3527-3533
20. Patrakka J, Kestila M, Wartiovaara J et al. CNS (NPHS1): features resulting from different mutations in Finnish patients. Kidney Int 2000; 58: 972-980
21. Weber S, Gribouval O, Esquivel EL et al. NPHS2 mutation analysis shows heterogeneity of SRNS and low post-transplant recurrence. Kidney Int 2004; 66: 571-579
22. Licht C, Eifinger F, Gharib M et al. A stepwise approach to the treatment of early onset nephrotic syndrome. Pediatr Nephrol 2000; 14: 1077-1082
23. Guez S, Giani M, Melzi ML et al. Adequate clinical control of congenital nephrotic syndrome by enalapril. Pediatr Nephrol 1998; 12: 130-132
24. Sreedharan R, Bockenhauer D. Congenital nephrotic syndrome responsive to angiotensin-converting enzyme inhibition. Pediatr Nephrol 2005; 20: 1340-1342
25. Kovacevic L, Reid CJ, Rigden SP. Management of CNS. Pediatr Nephrol 2003; 18: 426-430