Nephrotic syndrome in childhood
Authors:
S. Skálová 1; T. Seeman 2; Š. Štolbová 2; J. Zieg 2
Authors place of work:
Dětská klinika FN a LF UK, Hradec Králové
1; Pediatrická klinika FN Motol a 2. LF UK, Praha
2
Published in the journal:
Čes-slov Pediat 2017; 72 (2): 88-98.
Category:
Summary
Nephrotic syndrome (NS) includes a group of diseases with increased permeability of glomerular filtration barrier, which causes heavy proteinuria, hypoalbuminemia and edema. Idiopathic NS is the most common type in children. Most of the children are steroid-sensitive, however, about 20% fail to respond to steroid treatment and are at significant risk for progressive renal failure. Extensive research has revealed the structure of permeability membrane and podocyte function. More than 40 genes associated with steroid-resistant NS have been discovered. While corticosteroids and other immunosupressives are used in patients with idiopatic NS, immunosupressive therapy should be stopped in patients with proven genetic disease.
KEY WORDS:
nephrotic syndrome – idiopathic, genetic
Zdroje
1. Dossier C, Lapidus N, Bayer F, et al. Epidemiology of idiopathic nephrotic syndrome in children: endemic or epidemic? Pediatr Nephrol 2016; 31 (12): 2299–2308.
2. Floege J, Amann K. Primary glomerulonephritides. Lancet 2016; 387: 2036–2048.
3. Eddy AA, Symons JM. Nephrotic syndrome in childhood. Lancet 2003; 362: 629–639.
4. Tesař V, Zima T, Kalousová M. Pathobiochemistry of nephrotic syndrome. Adv Clin Chem 2003; 37: 173–218.
5. Cara-Fuentes G, Clapp WL, Johnson RJ, et al. Pathogenesis of proteinuria in idiopathic minimal change disease: molecular mechanisms. Pediatr Nephrol 2016; 31 (12): 2179–2289.
6. Davin JC. The glomerular permeability factors in idiopathic nephrotic syndrome. Pediatr Nephrol 2016; 31 (2): 207–215.
7. Ling C, Liu X, Shen Y, et al. Urinary CD80 levels as a diagnostic biomarker of minimal change disease. Pediatr Nephrol 2015; 30 (2): 309–316.
8. Bockenhauer D. Over- or underfill: not all nephrotic states are created equal. Pediatr Nephrol 2013; 28 (8): 1153–1156.
9. Kapur G, Valentini RP, Imam AA, Mattoo TK. Treatment of severe edema in children with nephrotic syndrome with diuretics alone–a prospective study. Clin J Am Soc Nephrol 2009; 4 (5): 907–913.
10. Vaziri ND. Disorders of lipid metabolism in nephrotic syndrome: mechanisms and consequences. Kidney Int 2016, 90 (1): 41–52.
11. Geier P. Nefrotický syndrm. Pediatrie pro praxi 2001; 2 (3): 120–123.
12. Skalova S, Podhola M, Geier P, Tichy T. Renal biopsy in children with steroid-dependent nephrotic syndrome. Bratisl lek Listy 2009; 110 (10): 647–649.
13. Arneil GC. Treatment of nephrosis with prednison. Lancet 1956; 270 (6920): 409–411.
14. Ehrich HH, Brodehl J. Long versus standard prednisone therapy for initial treatment of idiopathic nephrotic syndrome in children. Arbeitsgemeinschaft für Pädiatrische Nephrologie. Eur J Pediatr 1993; 152 (4): 357–361.
15. Hodson EM, Knight JF, Willis NS, Craig JC. Corticosteroid therapy in nephrotic syndrome: a meta-analysis of randomised controlled trials. Arch Dis Child 2000; 83 (1): 45–51.
16. Hoyer PF. New lessons from randomized trials in steroid-sensitive nephrotic syndrome: clear evidence against long steroid therapy. Kidney Int 2015; 87 (1): 17–19.
17. Sumegi V, Haszon I, Ivanyi B, et al. Long-term effects of levamisole treatment in childhood nephrotic syndrome. Pediatr Nephrol 2004; 19: 1354–1360.
18. Latta K, von Schnakenburg C, Ehrich J. A meta-analysis of cytotoxic treatment for frequently relapsing nephrotic syndrome in children. Pediatr Nephrol 2001; 16 (3): 271–282.
19. Larkins N, Kim S, Craig J, Hodson E. Steroid-sensitive nephrotic syndrome: an evidence-based update of immunosuppressive treatment in children. Arch Dis Child. 2016 Apr; 101 (4): 404–408.
20. Gellermann J, Weber L, Pape L, et al. Mycophenolate Mofetil versus Cyclosporin A in children with frequently relapsing nephrotic syndrome. J Am Soc Nephrol 2013; 24 (10): 1689–1697.
21. Ravani P, Bonanni A, Rossi R, et al. Anti-CD20 antibodies for idio-pathic nephrotic syndrome in children. Clin J Am Soc Nephrol 2016; 11 (4): 710–720.
22. Malina M, Cinek O, Janda J, Seeman T. Partial remission with cyclosporine A in a patient with nephrotic syndrome due to NPHS2 mutation. Pediatr Nephrol 2009; 24 (10): 2051–2053.
23. Gellermann J, Stefanidis CJ, Mitsioni A, Querfeld U. Successful treatment of steroid-resistant nephrotic syndrome associated with WT1 mutations. Pediatr Nephrol 2010; 25 (7): 1285–1289.
24. Büscher AK, Beck BB, Melk A, et al. Rapid response to cyclosporin A and favorable renal outcome in nongenetic versus genetic steroid-resistant nephrotic syndrome. Clin J Am Soc Nephrol 2016; 11 (2): 245–253.
25. 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 (12): 1397–1405.
26. Ehrich JH, Geerlings C, Zivicnjak M, et al. Steroid-resistant idiopathic childhood nephrosis: overdiagnosed and undertreated. Nephrol Dial Transplant 2007; 22 (8): 2183–2193.
27. Gipson DS, Trachtman H, Kaskel FJ, et al. Clinical trial of focal segmental glomerulosclerosis in children and young adults. Clinical trial of focal segmental glomerulosclerosis in children and young adults. Kidney Int 2011; 80 (8): 868–878.
28. Gellermann J, Ehrich JH, Querfeld U. Sequential maintenance therapy with cyclosporin A and mycophenolate mofetil for sustained remission of childhood steroid-resistant nephrotic syndrome. Nephrol Dial Transplant 2012; 27 (5): 1970–1978.
29. Magnasco A, Ravani P, Edefonti A, et al. Rituximab in children with resistant idiopathic nephrotic syndrome. J Am Soc Nephrol 2012; 23 (6): 1117–1124.
30. Kamei K, Ishikura K. Rituximab treatment for refractory steroid-resistant nephrotic syndrome. Pediatr Nephrol 2016; 31 (2): 337–338.
31. Basu B. Ofatamumab for rituximab-resistent nephrotic syndrome.N Engl J Med 2014; 370 (13): 1268–1270.
32. Franke D, Zimmering M, Wolfish N, et al. Treatment of FSGS with plasma exchange and immunadsorption. Pediatr Nephrol 2000; 14 (10–11): 965–969.
33. Kapur G. Treatment of severe edema in children with nephrotic syndrome with diuretics alone — A prospective study. CJASN 2009; 4 (5): 907–913.
34. Kerlin BA, Haworth K, Smoyer WE. Venous thromboembolism in pediatric nephrotic syndrome. Pediatr Nephrol 2014; 29 (6): 989–997.
35. Kestilä M, Lenkkeri U, Männikkö M, et al. Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome. Mol Cell 1998; 1 (4): 575–582.
36. 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 Apr; 24 (4): 349–543.
37. Sadowski CE, Lovric S, Ashraf S, et al. A single-gene cause in 29.5 % of cases of steroid-resistant nephrotic syndrome. J Am Soc Nephrol 2015; 26 (6): 1279–1289.
38. 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): e907–919.
39. 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.
40. Gee HY, Ashraf S, Wan X, et al. Mutations in EMP2 cause childhood-onset nephrotic syndrome. Am J Hum Genet 2014; 94 (6): 884–890.
41. Patrakka J, Kestilä M, Wartiovaara J, et al. Congenital nephrotic syndrome (NPHS1): features resulting from different mutations in Finnish patients. Kidney Int 2000; 58 (3): 972–980.
42. Holmberg C, Jalanko H. Congenital nephrotic syndrome and recurrence of proteinuria after renal transplantation. Pediatr Nephrol 2014; 29 (12): 2309–2317.
43. Joshi S, Andersen R, Jespersen B, Rittig S. Genetics of steroid-resistant nephrotic syndrome: a review of mutation spectrum and suggested approach for genetic testing. Acta Paediatr 2013; 102 (9): 844–856.
44. 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.
45. Ahn YH, Park EJ, Kang HG, et al. Genotype-phenotype analysis of pediatric patients with WT1 glomerulopathy. Pediatr Nephrol 2017; 32 (1): 81–89.
46. Chernin G, et al. Genotype/phenotype correlation in nephrotic syndrome caused by WT1 mutations. Clin J Am Soc Nephrol 2010; 5 (9): 1655–1662.
47. Gbadegesin R, Hinkes BG, Hoskins BE, et al. Mutations in PLCE1 are a major cause of isolated diffuse mesangial sclerosis (IDMS). Nephrol Dial Transplant 2008; 23 (4): 1291–1297.
48. Lovric S, Ashraf S, Tan W, Hildebrandt F. Genetic testing in steroid-resistant nephrotic syndrome: when and how? Nephrol Dial Transplant 2016; 31 (11): 1802–1813.
49. Trompeter RS, Lloyd BW, Hicks J, et al. Long-term outcome for children with minimal-change nephrotic syndrome. Lancet 1985; 1 (8425): 368–370.
50. Ishikura K, Yoshikawa N, Nakazato H, et al. Morbidity in children with frequently relapsing nephrosis: 10-year follow-up of a randomized controlled trial. Pediatr Nephrol 2015; 30 (3): 459–468.
51. Fakhouri F, Bocquet N, Taupin P, et al. Steroid-sensitive nephrotic syndrome: from childhood to adulthood. Am J Kidney Dis 2003; 41 (3): 550–557.
52. Abeyagunawardena AS, Sebire NJ, Risdon RA, et al. Predictors of long-term outcome of children with idiopathic focal segmental glomerulosclerosis. Pediatr Nephrol 2007; 22 (2): 215–221.
Štítky
Neonatology Paediatrics General practitioner for children and adolescentsČlánok vyšiel v časopise
Czech-Slovak Pediatrics
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