Congenital nephrotic syndrome with prolonged renal survival without renal replacement therapy

Pediatric Nephrology

Volumn 28, Issue 12, 2013, Pages 2313-2321

  Wong, William ^a   Morris, Maxwell Clarke ^a   Kara, Tonya ^a  

^a STARSHIP CHILDREN S HOSPITAL   (New Zealand)

Author keywords

Children; Congenital nephrotic syndrome; Maori; Mutational analysis; NPHS1

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CAUCASIAN; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL NEPHROTIC SYNDROME; DEMOGRAPHY; FEMALE; GENE MUTATION; HUMAN; KAPLAN MEIER METHOD; KIDNEY BIOPSY; KIDNEY FAILURE; MALE; MUTATIONAL ANALYSIS; NEPHRECTOMY; NEW ZEALAND; OCCLUSIVE CEREBROVASCULAR DISEASE; PRESCHOOL CHILD; PRIORITY JOURNAL; RENAL REPLACEMENT THERAPY; SCHOOL CHILD; SURVIVAL;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; DISEASE PROGRESSION; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; FOUNDER EFFECT; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT; INFANT, NEWBORN; KIDNEY FAILURE, CHRONIC; MALE; MEMBRANE PROTEINS; MUTATION; NEPHROTIC SYNDROME; NEW ZEALAND; OCEANIC ANCESTRY GROUP; PHENOTYPE; PROGNOSIS; RENAL REPLACEMENT THERAPY; RETROSPECTIVE STUDIES; RISK FACTORS; TIME FACTORS; YOUNG ADULT;

EID: 84888198606     PISSN: 0931041X     EISSN: 1432198X     Source Type: Journal    
DOI: 10.1007/s00467-013-2584-7     Document Type: Article

References (27)

1. Jalanko H (2009) Congenital nephrotic syndrome. Pediatr Nephrol 24:2121-2128
2. Kestila M, Mannikko M, Holmberg C, Gyapay G, Weissenbach J, Savolainen ER, Peltonen L, Tryggvason K (1994) Congenital nephrotic syndrome of the Finnish type maps to the long arm of chromosome 19. Am J Hum Genet 54:757-764
3. Patrakka J, Kestila M, Wartiovaara J, Ruotsalainen V, Tissari P, Lenkkeri U, Mannikko M, Visapaa I, Holmberg C, Rapola J, Tryggvason K, Jalanko H (2000) Congenital nephrotic syndrome (NPHS1): features resulting from different mutations in Finnish patients. Kidney Int 58:972-980
4. Heeringa SF, Vlangos CN, Chernin G, Hinkes B, Gbadegesin R, Liu J, Hoskins BE, Ozaltin F, Hildebrandt F, Members of the APN Study Group (2008) Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome. Nephrol Dial Transplant 23:3527-3533
5. Hinkes B, Mucha B, Vlango CN, Gbadegesin R, Liu J, Hasselbacher K, Hangan D, Ozaltin F, Zenker M, Hildebrandt F, Members of the Arbeitsgemeinschaft für Paediatrische Nephrologie Study Group (2007) 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 119:e907-e919
6. Mrowka C, Schedul A (2000) Wilm's tumour gene WT1: from structure to renal pathophysiologic features. J Am Soc Nephrol 11:S106-S115
7. Matejas V, Hinkes B, Alkandari F, Al-Gazali L, Annexstad E, Aytac MB, Barrow M, Kv-ta B, Bockenhauer D, Cheong H, Maruniak-Chudek I, Cochat P, Dötsch J, Gajjar P, Hennekam RC, Françoise Janssen F, Kagan M, Kariminejad A, Kemper MJ, Koenig J, Kogan J, Kroes HY, Kuwertz-Bröking E, Lewanda AF, Medeira A, Muscheites J, Niaudet P, Pierson M, Saggar A, Seaver L, Suri M, Tsygin A, Wühl E, Zurowska A, Uebe S, Hildebrandt F, Antignac C, Zenker M (2010) Mutations in the human laminin β2 (LAMB2) gene and the associated phenotypic spectrum. Human Mutat 31:992-1002
8. Gbadegesin R, Hinkes BG, Hoskins BE, Vlangos CN, Heeringa SF, Liu J, Loirat C, Ozaltin F, Hashmi S, Ulmer F, Cleper R, Ettenger R, Antignac C, Wiggins RC, Zenker M, Hildebrandt F (2008) Mutations in PLCE1 are a major cause of isolated diffuse mesangial sclerosis (IDMS). Nephrol Dial Transplant 23:1291-1297
9. Heaton PA, Smales O, Wong W (1999) Congenital nephrotic syndrome responsive to captopril and indomethacin. Arch Dis Child 81:174-175
10. Pomeranz A, Wolach B, Bernheim J, Korzets Z, Bernheim J (1995) Successful treatment of Finnish congenital nephrotic syndrome with captopril and indomethacin. J Pediatr 126:140-142
11. Kestilä M, Lenkkeri U, Männikkö M, Lamerdin J, McCready P, Putaala H, Ruotsalainen V, Morita T, Nissinen M, Herva R, Kashtan CE, Peltonen L, Holmberg C, Olsen A, Tryggvason K (1998) Positionally cloned gene for a novel glomerular protein-nephrin-is mutated in congenital nephrotic syndrome. Mol Cell 1:575-582
12. Guez S, Giani M, Melzi ML, Antignac C, Assael BM (1998) Adequate clinical control of congenital nephrotic syndrome by enalapril. Pediatr Nephrol 12:130-132
13. Kovacevic L, Reid CJ, Ridgen SPA (2003) Management of congenital nephrotic syndrome. Pediatr Nephrol 18:426-430
14. Finn LS, Symons JM, Smith JS (2003) Nephrotic syndrome in the newborn. Am J Kid Dis 42:1318-1323
15. Lui L, Doné SC, Koshnoodi J, Bertorello A, Wartiovaara J, Berggren P, Tryggvason K (2001) Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: insights into mechanisms of congenital nephroitc syndrome. Hum Mol Gen 10:2637-2644
16. Fuchshuber A, Niaudet P, Gribouval O, Jean G, Gubler MC, Broyer M, Antignac C (1996) Congenital nephrotic syndrome of the Finnish type: linkage to the locus in a non-Finnish population. Pediatr Nephrol 10:135-138
17. Bolk S, Puffenberger EG, Hudson J, Morton DH, Chakravarti A (1999) Elevated frequency and allelic heterogeneity of congenital nephrotic syndrome, Finnish type, in the Old Order Mennonites. Am J Hum Genet 65:1785-1790
18. Beltcheva O, Martin P, Lenkkeri U, Tryggvason K (2001) Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome. Hum Mutat 17:368-373
19. Machuca E, Benoit G, Nevo F, Tête MJ, Gribouval O, Pawtowski A, Brandström P, Loirat C, Niaudet P, Gubler MC, Antignac C (2010) Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome. J Am Soc Nephrol 21:1209-1217
20. Ovunc B, Ashraf S, Vega-Warner V, Bockenhauer D, Elshakhs NA, Joseph M, Hildebrandt F, Gesellschaft für Pädiatrische Nephrologie (GPN) (2012) Study group mutation analysis of NPHS1 in a worldwide cohort of congenital nephrotic syndrome patients. Nephron Clin Pract 120:c139-c146
21. Lemley KV (2006) Neonatal nephrotic presentation of child with a heterozygous NPHS1 mutation. Pediatr Nephrol 6:864-866
22. Gigante M, Defazio V, Iolascon A, Gesualdo L, Wong W (2007) Identification of new NPHS1 mutations and detection of founder-effect haplotype in New Zealand families with congenital nephrotic syndrome of the Finnish type. Nephrol Dial Transplant 22:vi36, FP057
23. Philippe A, Nevo F, Esquivel EL, Reklaityte D, Gribouval O, Tête MJ, Loirat C, Dantal J, Fischbach M, Pouteil-Noble C, Decramer S, Hoehne M, Benzing T, Charbit M, Niaudet P, Antignac C (2008) Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome. J Am Soc Nephrol 19:1871-1878
24. Goldenrod N, Dahan K (2010) Expanding the clinical spectrum of congenital nephrotic syndrome caused by NPHS1 mutations. Nephrol Dial Transplant 25:2837-2839
25. Schoeb DS, Chernin G, Heeringa SF, Matejas V, Held S, Vega-Warner V, Bockenhauer D, Vlangos CN, Moorani KN, Neuhaus TJ, Kari JA, MacDonald J, Saisawat P, Ashraf S, Ovunc B, Zenker M, Hildebrandt F, Gesellschaft für Paediatrische Nephrologie (GPN) Study Group (2010) Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS). Nephrol Dial Transplant 25:2970-2976
26. Koziell A, Grech V, Hussain S, Lee G, Lenkkeri U, Tryggvason K, Scambler P (2002) Genotype/phenotype correlations with NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration. Hum Mol Genet 11:378-388
27. Hassellbacher K, Wiggins RC, Matejas V (2006) Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2 associated kidney disorders. Kidney Int 70:1008-1012