An emerging molecular understanding and novel targeted treatment approaches in pediatric kidney diseases

Frontiers in Pediatrics

Volumn 2, Issue JUL, 2014, Pages

  Liebau, Max Christoph ^a  

^a UNIVERSITY HOSPITAL OF COLOGNE   (Germany)

Author keywords

AHUS; Cilia; Ciliopathies; Nephrotic syndrome; Podocyte; Polycystic kidney disease

Indexed keywords

EID: 85017299637     PISSN: None     EISSN: 22962360     Source Type: Journal    
DOI: 10.3389/fped.2014.00068     Document Type: Short Survey

References (79)

1. Greenbaum LA, Benndorf R, Smoyer WE. Childhood nephrotic syndrome-current and future therapies. Nat Rev Nephrol (2012) 8(8):445-58. doi: 10.1038/nrneph.2012.115
2. Brinkkoetter PT, Ising C, Benzing T. The role of the podocyte in albumin filtration. Nat Rev Nephrol (2013) 9(6):328-36. doi:10.1038/nrneph.2013.78
3. Farquhar MG, Wissig SL, Palade GE. Glomerular permeability. I. Ferritin transfer across the normal glomerular capillary wall. J Exp Med (1961) 113:47-66. doi:10.1084/jem.113.1.47
4. Farquhar MG, Palade GE. Glomerular permeability. II. Ferritin transfer across the glomerular capillary wall in nephrotic rats. J Exp Med (1961) 114:699-716. doi:10.1084/jem.114.5.699
5. Graham RC Jr., Karnovsky MJ. Glomerular permeability. Ultrastructural cytochemical studies using peroxidases as protein tracers. J Exp Med (1966) 124(6):1123-34. doi:10.1084/jem.124.6.1123
6. Kestilä M, Lenkkeri U, Männikkö M, Lamerdin J, McCready P, Putaala H, et al. Positionally cloned gene for a novel glomerular protein-nephrin-is mutated in congenital nephrotic syndrome. Mol Cell (1998) 1(4):575-82. doi:10.1016/S1097-2765(00)80057-X
7. Ruotsalainen V, Ljungberg P, Wartiovaara J, Lenkkeri U, Kestilä M, Jalanko H, et al. Nephrin is specifically located at the slit diaphragm of glomerular podocytes. Proc Natl Acad Sci U S A (1999) 96(14):7962-7. doi:10.1073/pnas.96.14.7962
8. Saleem MA. New developments in steroid-resistant nephrotic syndrome. Pediatr Nephrol (2013) 28(5):699-709. doi:10.1007/s00467-012-2239-0
9. Liebau MC, Benzing T. [Recent developments in genetic kidney diseases]. Dtsch Med Wochenschr (2011) 136(19):1014-20. doi:10.1055/s-0031-1275836
10. Suh JH, Miner JH. The glomerular basement membrane as a barrier to albumin. Nat Rev Nephrol (2013) 9(8):470-7. doi:10.1038/nrneph.2013.109
11. Jarad G, Cunningham J, Shaw AS, Miner JH. Proteinuria precedes podocyte abnormalities in Lamb2-/-mice, implicating the glomerular basement membrane as an albumin barrier. J Clin Invest (2006) 116(8):2272-9. doi:10.1172/JCI28414
12. Satchell S. The role of the glomerular endothelium in albumin handling. Nat Rev Nephrol (2013) 9(12):717-25. doi:10.1038/nrneph.2013.197
13. Eremina V, Sood M, Haigh J, Nagy A, Lajoie G, Ferrara N, et al. Glomerular-specific alterations of VEGF-A expression lead to distinct congenital and acquired renal diseases. J Clin Invest (2003) 111(5):707-16. doi:10.1172/JCI17423
14. Maynard SE, Thadhani R. Pregnancy and the kidney. J Am Soc Nephrol (2009) 20(1):14-22. doi:10.1681/ASN.2008050493
15. Eremina V, Jefferson JA, Kowalewska J, Hochster H, Haas M, Weisstuch J, et al. VEGF inhibition and renal thrombotic microangiopathy. N Engl J Med (2008) 358(11):1129-36. doi:10.1056/NEJMoa0707330
16. Smithies O. Why the kidney glomerulus does not clog: a gel permeation/diffusion hypothesis of renal function. Proc Natl Acad Sci U S A (2003) 100(7):4108-13. doi:10.1073/pnas.0730776100
17. Moeller MJ, Tenten V. Renal albumin filtration: alternative models to the standard physical barriers. Nat Rev Nephrol (2013) 9(5):266-77. doi:10.1038/nrneph.2013.58
18. Kiffel J, Rahimzada Y, Trachtman H. Focal segmental glomerulosclerosis and chronic kidney disease in pediatric patients. Adv Chronic Kidney Dis (2011) 18(5):332-8. doi:10.1053/j.ackd.2011.03.005
19. Büscher AK, Kranz B, Büscher R, Hildebrandt F, Dworniczak B, Pennekamp P, et al. Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome. Clin J Am Soc Nephrol (2010) 5(11):2075-84. doi:10.2215/CJN.01190210
20. Gellermann J, Stefanidis CJ, Mitsioni A, Querfeld U. Successful treatment of steroid resistant nephrotic syndrome associated with WT1 mutations. Pediatr Nephrol (2010) 25(7):1285-9. doi:10.1007/s00467-010-1468-3
21. Lipska BS, Iatropoulos P, Maranta R, Caridi G, Ozaltin F, Anarat A, et al. Genetic screening in adolescents with steroid-resistant nephrotic syndrome. Kidney Int (2013) 84(1):206-13. doi:10.1038/ki.2013.93
22. Weber S, TönshoffB. Recurrence of focal-segmental glomerulosclerosis in children after renal transplantation: clinical and genetic aspects. Transplantation (2005) 80(1 Suppl):S128-34. doi:10.1097/01.tp.0000187110.25512.82
23. Wei C, El Hindi S, Li J, Fornoni A, Goes N, Sageshima J, et al. Circulating urokinase receptor as a cause of focal segmental glomerulosclerosis. Nat Med (2011) 17(8):952-60. doi:10.1038/nm.2411
24. Wei C, Trachtman H, Li J, Dong C, Friedman AL, Gassman JJ, et al. Circulating suPAR in two cohorts of primary FSGS. J Am Soc Nephrol (2012) 23(12):2051-9. doi:10.1681/ASN.2012030302
25. Maas RJH, Deegens JKJ, Wetzels JFM. Serum suPAR in patients with FSGS: trash or treasure? Pediatr Nephrol (2013) 28(7):1041-8. doi:10.1007/s00467-013-2452-5
26. Harita Y, Ishizuka K, Tanego A, Sugawara N, Chikamoto H, Akioka Y, et al. Decreased glomerular filtration as the primary factor of elevated circulating suPAR levels in focal segmental glomerulosclerosis. Pediatr Nephrol (2014). doi:10.1007/s00467-014-2808-5
27. Noris M, Mescia F, Remuzzi G. STEC-HUS, atypical HUS and TTP are all diseases of complement activation. Nat Rev Nephrol (2012) 8(11):622-33. doi:10.1038/nrneph.2012.195
28. Zuber J, Fakhouri F, Roumenina LT, Loirat C, Frémeaux-Bacchi V. French Study Group for aHUS/C3G. Use of eculizumab for atypical haemolytic uraemic syndrome and C3 glomerulopathies. Nat Rev Nephrol (2012) 8(11):643-57. doi:10.1038/nrneph.2012.214
29. Waters AM, Licht C. aHUS caused by complement dysregulation: new therapies on the horizon. Pediatr Nephrol (2011) 26(1):41-57. doi:10.1007/s00467-010-1556-4
30. Rathbone J, Kaltenthaler E, Richards A, Tappenden P, Bessey A, Cantrell A. A systematic review of eculizumab for atypical haemolytic uraemic syndrome (aHUS). BMJ Open (2013) 3(11):e003573. doi:10.1136/bmjopen-2013-003573
31. Pickering M, Cook HT. Complement and glomerular disease: new insights. Curr Opin Nephrol Hypertens (2011) 20(3):271-7. doi:10.1097/MNH.0b013e328345848b
32. George JN. How I treat patients with thrombotic thrombocytopenic purpura: 2010. Blood (2010) 116(20):4060-9. doi:10.1182/blood-2010-07-271445
33. George JN, Terrell DR, Swisher KK, Vesely SK. Lessons learned from the Oklahoma thrombotic thrombocytopenic purpura-hemolytic uremic syndrome registry. J Clin Apher (2008) 23(4):129-37. doi:10.1002/jca.20169
34. Châtelet V, Lobbedez T, Frémeaux-Bacchi V, Ficheux M, Ryckelynck JP, Hurault de Ligny B. Eculizumab: safety and efficacy after 17 months of treatment in a renal transplant patient with recurrent atypical hemolytic-uremic syndrome: case report. Transplant Proc (2010) 42(10):4353-5. doi:10.1016/j.transproceed.2010.09.125
35. Zimmerhackl LB, Hofer J, Cortina G, Mark W, Würzner R, Jungraithmayr TC, et al. Prophylactic eculizumab after renal transplantation in atypical hemolytic-uremic syndrome. N Engl J Med (2010) 362(18):1746-8. doi:10.1056/NEJMc1001060
36. Pickering MC, D'Agati VD, Nester CM, Smith RJ, Haas M, Appel GB, et al. C3 glomerulopathy: consensus report. Kidney Int (2013) 84(6):1079-89. doi:10.1038/ki.2013.377
37. Johnson SA, Wong EKS, Taylor CM. Making sense of the spectrum of glomerular disease associated with complement dysregulation. Pediatr Nephrol (2013). doi:10.1007/s00467-013-2559-8
38. Radhakrishnan S, Lunn A, Kirschfink M, Thorner P, Hebert D, Langlois V, et al. Eculizumab and refractory membranoproliferative glomerulonephritis. N Engl J Med (2012) 366(12):1165-6. doi:10.1056/NEJMc1106619
39. Bomback AS, Smith RJ, Barile GR, Zhang Y, Heher EC, Herlitz L, et al. Eculizumab for dense deposit disease and C3 glomerulonephritis. Clin J Am Soc Nephrol (2012) 7(5):748-56. doi:10.2215/CJN.12901211
40. Bomback AS, Appel GB. Pathogenesis of the C3 glomerulopathies and reclassification of MPGN. Nat Rev Nephrol (2012) 8(11):634-42. doi:10.1038/nrneph.2012.213
41. Smith RJH, Harris CL, Pickering MC. Dense deposit disease. Mol Immunol (2011) 48(14):1604-10. doi:10.1016/j.molimm.2011.04.005
42. Servais A, Frémeaux-Bacchi V, Lequintrec M, Salomon R, Blouin J, Knebelmann B, et al. Primary glomerulonephritis with isolated C3 deposits: a new entity which shares common genetic risk factors with haemolytic uraemic syndrome. J Med Genet (2007) 44(3):193-9. doi:10.1136/jmg.2006.045328
43. Lapeyraque A-L, Malina M, Fremeaux-Bacchi V, Boppel T, Kirschfink M, Oualha M, et al. Eculizumab in severe Shiga-toxin-associated HUS. N Engl J Med (2011) 364(26):2561-3. doi:10.1056/NEJMc1100859
44. Delmas Y, Vendrely B, Clouzeau B, Bachir H, Bui H-N, Lacraz A, et al. Outbreak of Escherichia coli O104:H4 haemolytic uraemic syndrome in France: outcome with eculizumab. Nephrol Dial Transplant (2014) 29(3):565-72. doi:10.1093/ndt/gft470
45. Loos S, Ahlenstiel T, Kranz B, Staude H, Pape L, Härtel C, et al. An outbreak of Shiga toxin-producing Escherichia coli O104:H4 hemolytic uremic syndrome in Germany: presentation and short-term outcome in children. Clin Infect Dis (2012) 55(6):753-9. doi:10.1093/cid/cis531
46. Kielstein JT, Beutel G, Fleig S, SteinhoffJ, Meyer TN, Hafer C, et al. Best supportive care and therapeutic plasma exchange with or without eculizumab in Shiga-toxin producing E. coli O104:H4 induced haemolytic-uraemic syndrome: an analysis of the German STEC-HUS registry. Nephrol Dial Transplant (2012) 27(10):3807-15. doi:10.1093/ndt/gfs394
47. Hildebrandt F, Benzing T, Katsanis N. Ciliopathies. N Engl J Med (2011) 364(16):1533-43. doi:10.1056/NEJMra1010172
48. Harris PC, Torres VE. Polycystic kidney disease. Annu Rev Med (2009) 60:321-37. doi:10.1146/annurev.med.60.101707.125712
49. Liebau MC, Serra AL. Looking at the (w)hole: magnet resonance imaging in polycystic kidney disease. Pediatr Nephrol (2013) 28(9):1771-83. doi:10.1007/s00467-012-2370-y
50. Nigg EA, RaffJW. Centrioles, centrosomes, and cilia in health and disease. Cell (2009) 139(4):663-78. doi:10.1016/j.cell.2009.10.036
51. Gerdes JM, Davis EE, Katsanis N. The vertebrate primary cilium in development, homeostasis, and disease. Cell (2009) 137(1):32-45. doi:10.1016/j.cell.2009.03.023
52. Barr MM, DeModena J, Braun D, Nguyen CQ, Hall DH, Sternberg PW. The Caenorhabditis elegans autosomal dominant polycystic kidney disease gene homologs lov-1 and pkd-2 act in the same pathway. Curr Biol (2001) 11(17):1341-6. doi:10.1016/S0960-9822(01)00423-7
53. Pazour GJ, Dickert BL, Vucica Y, Seeley ES, Rosenbaum JL, Witman GB, et al. Chlamydomonas IFT88 and its mouse homologue, polycystic kidney disease gene tg737, are required for assembly of cilia and flagella. J Cell Biol (2000) 151(3):709-18. doi:10.1083/jcb.151.3.709
54. Pazour GJ. Intraflagellar transport and cilia-dependent renal disease: the ciliary hypothesis of polycystic kidney disease. J Am Soc Nephrol (2004) 15(10):2528-36. doi:10.1097/01.ASN.0000141055.57643.E0
55. Kulaga HM, Leitch CC, Eichers ER, Badano JL, Lesemann A, Hoskins BE, et al. Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse. Nat Genet (2004) 36(9):994-8. doi:10.1038/ng1418
56. Tan PL, Barr T, Inglis PN, Mitsuma N, Huang SM, Garcia-Gonzalez MA, et al. Loss of Bardet Biedl syndrome proteins causes defects in peripheral sensory innervation and function. Proc Natl Acad Sci U S A (2007) 104(44):17524-9. doi:10.1073/pnas.0706618104
57. Chapman AB. Approaches to testing new treatments in autosomal dominant polycystic kidney disease: insights from the CRISP and HALT-PKD studies. Clin J Am Soc Nephrol (2008) 3(4):1197-204. doi:10.2215/CJN.00060108
58. Grantham JJ, Torres VE, Chapman AB, Guay-Woodford LM, Bae KT, King BF Jr., et al. Volume progression in polycystic kidney disease. N Engl J Med (2006) 354(20):2122-30. doi:10.1056/NEJMoa054341
59. Serra AL, Kistler AD, Poster D, Struker M, Wüthrich RP, Weishaupt D, et al. Clinical proof-of-concept trial to assess the therapeutic effect of sirolimus in patients with autosomal dominant polycystic kidney disease: SUISSE ADPKD study. BMC Nephrol (2007) 8:13. doi:10.1186/1471-2369-8-13
60. Walz G, Budde K, Mannaa M, Nürnberger J, Wanner C, Sommerer C, et al. Everolimus in patients with autosomal dominant polycystic kidney disease. N Engl J Med (2010) 363(9):830-40. doi:10.1056/NEJMoa1003491
61. Serra AL, Poster D, Kistler AD, Krauer F, Raina S, Young J, et al. Sirolimus and kidney growth in autosomal dominant polycystic kidney disease. N Engl J Med (2010) 363(9):820-9. doi:10.1056/NEJMoa0907419
62. Watnick T, Germino GG. mTOR inhibitors in polycystic kidney disease. N Engl J Med (2010) 363(9):879-81. doi:10.1056/NEJMe1006925
63. Shillingford JM, Murcia NS, Larson CH, Low SH, Hedgepeth R, Brown N, et al. The mTOR pathway is regulated by polycystin-1, and its inhibition reverses renal cystogenesis in polycystic kidney disease. Proc Natl Acad Sci U S A (2006) 103(14):5466-71. doi:10.1073/pnas.0509694103
64. Shillingford JM, Piontek KB, Germino GG, Weimbs T. Rapamycin ameliorates PKD resulting from conditional inactivation of Pkd1. J Am Soc Nephrol (2010) 21(3):489-97. doi:10.1681/ASN.2009040421
65. Torres VE, Boletta A, Chapman A, Gattone V, Pei Y, Qian Q, et al. Prospects for mTOR inhibitor use in patients with polycystic kidney disease and hamartomatous diseases. Clin J Am Soc Nephrol (2010) 5(7):1312-29. doi:10.2215/CJN.01360210
66. Liebau MC, Braun F, Höpker K, Weitbrecht C, Bartels V, Müller R-U, et al. Dysregulated autophagy contributes to podocyte damage in Fabry's disease. PLoS One (2013) 8(5):e63506. doi:10.1371/journal.pone.0063506
67. Gödel M, Hartleben B, Herbach N, Liu S, Zschiedrich S, Lu S, et al. Role of mTOR in podocyte function and diabetic nephropathy in humans and mice. J Clin Invest (2011) 121(6):2197-209. doi:10.1172/JCI44774
68. Hartleben B, Gödel M, Meyer-Schwesinger C, Liu S, Ulrich T, Köbler S, et al. Autophagy influences glomerular disease susceptibility and maintains podocyte homeostasis in aging mice. J Clin Invest (2010) 120(4):1084-96. doi:10.1172/JCI39492
69. Shillingford JM, Leamon CP, Vlahov IR, Weimbs T. Folate-conjugated rapamycin slows progression of polycystic kidney disease. J Am Soc Nephrol (2012) 23(10):1674-81. doi:10.1681/ASN.2012040367
70. Wang X, Gattone V II, Harris PC, Torres VE. Effectiveness of vasopressin V2 receptor antagonists OPC-31260 and OPC-41061 on polycystic kidney disease development in the PCK rat. J Am Soc Nephrol (2005) 16(4):846-51. doi:10.1681/ASN.2004121090
71. Torres VE, Wang X, Qian Q, Somlo S, Harris PC, Gattone VH II. Effective treatment of an orthologous model of autosomal dominant polycystic kidney disease. Nat Med (2004) 10(4):363-4. doi:10.1038/nm1004
72. Torres VE, Chapman AB, Devuyst O, Gansevoort RT, Grantham JJ, Higashihara E, et al. Tolvaptan in patients with autosomal dominant polycystic kidney disease. N Engl J Med (2012) 367(25):2407-18. doi:10.1056/NEJMoa1205511
73. Kelsey R. Polycystic kidney disease: tolvaptan in ADPKD-TEMPO 3:4 trial results. Nat Rev Nephrol (2013) 9(1):1. doi:10.1038/nrneph.2012.236
74. Erickson KF, Chertow GM, Goldhaber-Fiebert JD. Cost-effectiveness of tolvaptan in autosomal dominant polycystic kidney disease. Ann Intern Med (2013) 159(6):382-9. doi:10.7326/0003-4819-159-6-201309170-00004
75. Caroli A, Antiga L, Cafaro M, Fasolini G, Remuzzi A, Remuzzi G, et al. Reducing polycystic liver volume in ADPKD: effects of somatostatin analogue octreotide. Clin J Am Soc Nephrol (2010) 5(5):783-9. doi:10.2215/CJN.05380709
76. Ruggenenti P, Remuzzi A, Ondei P, Fasolini G, Antiga L, Ene-Iordache B, et al. Safety and efficacy of long-acting somatostatin treatment in autosomal-dominant polycystic kidney disease. Kidney Int (2005) 68(1):206-16. doi:10.1111/j.1523-1755.2005.00395.x
77. Hogan MC, Masyuk TV, Page LJ, Kubly VJ, Bergstralh EJ, Li X, et al. Randomized clinical trial of long-acting somatostatin for autosomal dominant polycystic kidney and liver disease. J Am Soc Nephrol (2010) 21(6):1052-61. doi:10.1681/ASN.2009121291
78. Van Keimpema L, Nevens F, Vanslembrouck R, van Oijen MGH, Hoffmann AL, Dekker HM, et al. Lanreotide reduces the volume of polycystic liver: a randomized, double-blind, placebo-controlled trial. Gastroenterology (2009) 137(5):.e1-2. doi:10.1053/j.gastro.2009.07.052
79. Caroli A, Perico N, Perna A, Antiga L, Brambilla P, Pisani A, et al. Effect of longacting somatostatin analogue on kidney and cyst growth in autosomal dominant polycystic kidney disease (ALADIN): a randomised, placebo-controlled, multicentre trial. Lancet (2013) 382(9903):1485-95. doi:10.1016/S0140-6736(13)61407-5