Российское диализное общество

Просмотр статьи

<< Вернуться к списку статей журнала

Том 16 №2 2014 год - Нефрология и диализ

Клинико-генетическая гетерогенность cтероид-резистентного нефротического синдрома у детей (Обзор литературы)


Приходина Л.С.

Аннотация: В обзоре представлены современные литературные сведения о клинико-генетической гетерогенности стероид-резистентного нефротического синдрома у детей, как спорадических случаев, так и в составе ряда наследственных синдромов с характерными экстраренальными проявлениями. Обращается внимание на различный спектр генов, ассоциированных со стероид-резистентным нефротическим синдромом в зависимости от возраста манифестации заболевания, семейного характера патологии, морфологических вариантов и наличия характерных экстраренальных проявлений. Освещаются генотип-фенотипические ассоциации и потенциальная взаимосвязь с эффективностью иммуносупрессивной терапии стероид-резистентного нефротического синдрома в детском возрасте.

Для цитирования: Приходина Л.С. Клинико-генетическая гетерогенность cтероид-резистентного нефротического синдрома у детей (Обзор литературы). Нефрология и диализ. 2014. 16(2):236-254. doi:


Весь текст



Ключевые слова: дети, стероид-резистентный нефротический синдром, гены, наследственные синдромы, children, steroid-resistant nephrotic syndrome, genes, inherited syndromes

Список литературы:
  1. Вашурина Т.В., Зробок О.И., Маргиева Т.В. и соавт. Редкая форма митохондриопатии, обусловленной дефицитом коэнзима Q: стероид-резистентный нефротический синдром вследствие мутации CoQ6 // Нефрология и диализ. 2012. Т. 14. №2. С. 133-136.
  2. Каган М.Ю., Бервина Н.Н., Жанетова А.А. Случай «мягкого» варианта синдрома Пирсона // Нефрология и диализ. 2007. Т. 9. № 2. C. 1-7.
  3. Корниенко В.Ю., Алябьева Н.М., Вашурина Т.В. и соавт. Изучение гетерогенности гена NPHS2 у детей со стероид-резистентным нефротическим синдромом // Молодой ученый. 2012. №1. Т. 2. С. 133-137.
  4. Приходина Л.С. Клинические и генетические закономерности прогрессирования стероид-резистентного нефротического синдрома у детей и эффективность иммуносупрессивной терапии. Дисс. докт., М, 2012 г. 375 с.
  5. Шатохина О.В., Игнатова М.С., Османов И.М. и соавт. Клинический полиморфизм и генетическая характеристика синдрома Дениса-Драша и Фрайзера // Нефрология и диализ. 2004. Т. 6. С. 337-343.
  6. Agarwal A.K., Zhou X.J., Hall R.K. et al. Focal segmental glomerulosclerosis in patients with mandibulo-acral dyplasia owing to ZMPSTE24 deficiency // J. Invest. Med. 2006. Vol. 54. P. 208-213.
  7. Akilesh S., Suleiman H., Yu H. et. al. Arhgap24 inactivates Rac1 in mouse podocytes, and a mutant form is associated with familial focal segmental glomerulosclerosis // J. Clin. Invest. 2011. Vol. 121. P. 4127-4137.
  8. Ashraf S., Gee H. Y., Woerner S., Xie L. X., Vega-Warner V. et al. ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption // J. Clin. Invest. 2013. Vol. 123. P. 5179-5189.
  9. Barbaux S., Niaudet P., Gubler M.C. et al. Donor splice-site mutations in WT1 are responsible for Frasier syndrome // Nat. Genet. 1997. Vol. 17. P. 467-470.
  10. Bensman A., Niaudet P. Non-immunologic mechanisms of calcineurin inhibitors explain its antiproteinuric effects in genetic glomerulopathies // Pediatr. Nephrol. 2010. Vol. 25. P. 1197-1199.
  11. Benzing T. Signaling at the slit diaphragm // J. Am. Soc. Nephrol. 2004. Vol. 15. P. 1382-1391.
  12. Berkovic S.F., Dibbens L.M., Oshlack A. Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis // Am. J. Hum. Genet. 2008. Vol. 82. P. 673-684.
  13. Bertelli R., Ginevri F., Caridi G. et al. Recurrence of focal segmental glomerulosclerosis after renal transplantation in patients with mutations of podocin // Am. J. Kidney Dis. 2003. Vol. 41. P. 1314-1321.
  14. Boerkoel C.F., Takashima H., John J. et al. Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia // Nat. Genet. 2002. Vol. 30. P. 215-220.
  15. Bongers E.M., Huysmans F.T., Levtchenko E. et al. Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy // Eur J Hum Genet. 2005. Vol. 13. P. 935-946.
  16. Boute N., Gribouval O., Roselli S., et al. NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome // Nature Genet. 2000. Vol. 24. P. 349-354.
  17. Boyer O., Benoit G., Gribouval O. et al. Mutational analysis of the PLCE1 gene in steroid resistant nephrotic syndrome // J. Med. Genet. 2010. Vol. 47. P. 445-452.
  18. Boyer O., Woerner S., Yang F., Oakeley E.J. et al. LMX1B mutations cause hereditary FSGS without extrarenal involvement // J. Am. Soc. Nephrol. 2013. Vol. 24. P. 1216-1222.
  19. Brown E.J., Schlondorff J.S., Becker D.J. et al. Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis // Nat. Genet. 2010. Vol. 42. P. 72-76.
  20. Caridi C., Gigante M., Ravani P. et al. Clinical features and long-term outcome of nephrotic syndrome associated with heterozygous NPHS1 and NPHS2 mutations // Clin. J. Am. Soc. Nephrol. 2009. Vol. 4. P. 1065-1072.
  21. Caridi G., Bertelli R., Carrea A. et al. Prevalence, genetics and clinical features of patients carrying podocin mutations in steroid-resistant non-familial focal segmental glomerulosclerosis // J. Am. Soc. Nephrol. 2001. Vol. 12. P. 2742-2746.
  22. Caridi G., Bertelli R., Di Duca M. et al. Broadening the spectrum of diseases related to podocin mutations // J. Am. Soc. Nephrol. 2003. Vol. 14. P. 1278-1286.
  23. Caridi G., Bertelli R., Scolari F. et al. Podocin mutations in sporadic focal-segmental glomerulosclerosis occurring in adulthood // Kidney Int. 2003. Vol. 64. P. 365.
  24. Caridi G., Perfumo F., Ghiggeri G.M. NPHS2 (podocin) mutations in nephrotic syndrome. Clinical spectrum and fine mechanisms // Pediatric Research. 2005. Vol. 57. P. 54-61.
  25. Caridi G., Trivelli A., Sanna-Cherci S. et al. Familial forms of nephrotic syndrome // Pediatr. Nephrol. 2010. Vol. 25. P. 241-252.
  26. Cochat P., Fargue S., Mestrallet G. et al. Disease recurrence in pediatric renal transplantation // Pediatr. Nephrol. 2009. Vol. 24. P. 2079-2108.
  27. Cooperstone B.G., Friedman A., Kaplan B.S. et al. Galloway-Mowat syndrome of abnormal gyral patterns and glomerulopathy // Am. J. Med. Genet. 1993. Vol. 47. P. 250-254.
  28. Denamur E., Bosquet N., Baudoin V. et al. WT1 splice-site mutations are rarely associated with primary steroid-resistant focal and segmental glomerulosclerosis // Kidney Int. 2000. Vol. 57. P. 1868-1872.
  29. Dreyer S.D., Zhou G., Baldini A. et al. Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome // Nat. Genet. 1998. Vol. 19. P.47-50.
  30. Dryer S.E., Reiser J. TRPC6 channels and their binding partners in podocytes: role in glomerular filtration and pathophysiology // Am. J. Physiol. Renal. Physiol. 2010. Vol. 299. P. 689-701.
  31. Ehrich J.H.H., Geerlings C., Zivicnjak M. et al. Steroid-resistant idiopathic childhood nephrosis: overdiagnosed and undertreated // Nephrol. Dial. Transplant. 2007. Vol. 22. P. 2183-2193.
  32. ESPN/ERA-EDTA Registry annual report 2008. - 2010. - http://www.espn-reg.org
  33. Faul C., Asanuma K., Yanagida-Asanuma E. et al. Actin up: regulation of podocyte structure and function by components of the actin cytoskeleton // Trends. Cell. Biol. 2007. Vol. 17. P. 428-437.
  34. Faul C., Donnelly M., Merscher-Gomez S. et al. The actin cytoskeleton of kidney podocytes is a direct target of the antiproteinuric effect of cyclosporine A // Nat. Med. 2008. Vol. 14. P. 931-938.
  35. Fletcher J., McDonald S., Alexander S.I. et al. Prevalence of genetic renal disease in children // Pediatr. Nephrol. 2013. Vol. 28. P. 251-256.
  36. Forsgren M., Attersand A., Lake S. et al. Isolation and functional expression of human COQ2, a gene encoding a polyprenyl transferase involved in the synthesis of CoQ // Biochem. J. 2004. Vol. 382. P.519-526.
  37. Fujii Y., Khoshnoodi J., Takenaka H. et al. The effect of dexamethasone on defective nephrin transport caused by ER stress: a potential mechanism for the therapeutic action of glucocorticoids in the acquired glomerular diseases // Kidney Int. 2006. Vol. 69. P. 1350-1359.
  38. Furness P.N., Hall L.L., Shaw J.A. et al. Glomerular expression of nephrin is decreased in acquired human nephrotic syndrome // Nephrol. Dial. Transplant. 1999. Vol. 14. P. 1234-1237.
  39. Gbadegesin R., Bartkowiak B., Lavin P.J. et al. Exclusion of homozygous PLCE1 (NPHS3) mutations in 69 families with idiopathic and hereditary FSGS // Pediatr. Nephrol. 2009. Vol. 24. P. 281-285.
  40. Gbadegesin R., Hinkes B.G., Hoskins B.E. et al. Mutations in PLCE1 are a major cause of isolated diffuse mesangial sclerosis (IDMS) // Nephrol. Dial. Transplant. 2008. Vol. 23. P. 1291-1297.
  41. Gellermann J., Stefanidis C.J., Mitsioni A., Querfeld U. Successful treatment of steroid-resistant nephrotic syndrome associated with WT1 mutations // Pediatr. Nephrol. 2010. Vol. 25. P. 1285-1289.
  42. Genovese G., Tonna S.J., Knob A.U. et al. A risk allele for focal segmental glomerulosclerosis in African Americans is located within a region containing APOL1 and MYH9 // Kidney Int. 2010. Vol. 78. P. 698-704.
  43. Gerke P., Huber T.B., Sellin L. et al. Homodimerization and heterodimerization of the glomerular podocyte proteins nephrin and NEPH1 // J. Am. Soc. Nephrol. 2003. Vol. 14. P. 918-926.
  44. Gessler M., Poustka A., Cavenee W. et al. Homozygous deletion in Wilms tumors of a zinc-finger gene identified by chromosome jumping // Nature. 1990. Vol. 343. P. 774-778.
  45. Gigante M., Caridi C., Montemurno E. et al. TRPC6 mutations in children with steroid-resistant nephrotic syndrome and a typical phenotype // Clin. J. Am. Soc. Nephrol. 2011. Vol. 6. P. 1626-1634.
  46. Gipson D.S., Chin H., Presler T.P. et al. Differential risk of remission and ESRD in childhood FSGS // Pediatr. Nephrol. 2006. Vol. 21. P. 344-349.
  47. Groothoff J.W., Gruppen M.P., Offringa M. et al. Mortality and causes of death of end-stage renal disease in children: a Dutch cohort study // Kidney Int. 2002. Vol.61. P. 621-629.
  48. Gupta I.R., Baldwin C., Auguste D. et al. ARHGDIA: a novel gene implicated in nephrotic syndrome // J. Med. Genet. 2013. Vol. 50. P. 330-338.
  49. Haltia A., Solin M.L., Holmberg C. et al. Morphologic changes suggesting abnormal renal differentiation in congenital nephrotic syndrome // Pediatr. Res. 1998. Vol. 43. P. 410-414.
  50. Haraldsson B., Nystrom J., Deen, W.M. Properties of the glomerular barrier and mechanisms of proteinuria // Physiol. Rev. 2008. Vol. 88. P. 451-487.
  51. Has C., Sparta G., Kiritsi D., Weibel L., Moeller A. et al. Integrin alpha-3 mutations with kidney, lung, and skin disease // New Eng. J. Med. 2012. Vol. 366. P. 1508-1514.
  52. Hasselbacher K., Wiggins R.C., Matejas V. et al. Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders // Kidney Int. 2006. Vol. 70. P. 1008-1012.
  53. He N., Zahirieh A., Mei Y. et al. Recessive NPHS2 (Podocin) mutations are rare in adult-onset idiopathic focal segmental glomerulosclerosis // Clin. J. Am. Soc. Nephrol. 2007. Vol. 2. P. 31-37.
  54. Heeringa S.F., Chernin G., Chaki M. et al. COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness // J. Clin. Invest. 2011. Vol. 121. P. 2013-2024.
  55. Heeringa S.F., Vlangos C.N., Chernin G. et al. Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome // Nephrol. Dial. Transplant. 2008. Vol. 23. P. 3527-3533.
  56. Hindi SE, Reiser J. TRPC channel modulation in podocytes - inching toward novel treatments for glomerular disease // Pediatr. Nephrol. 2011. Vol. 26. P. 1057-1064.
  57. Hinkes B., Vlangos C., Heeringa S. et al. Specific podocin mutations correlate with age of onset in steroid-resistant nephrotic syndrome // J. Am. Soc. Nephrol. 2008. Vol. 19. P. 365-371.
  58. Hinkes B., Wiggins R.C., Gbadegesin R. et al. Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible // Nat. Genet. 2006. Vol. 38. P. 1397-1405.
  59. Hinkes B.G., Mucha B., Vlangos C.N. 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. Vol. 119. P. 907-919.
  60. Huber T.B., Kottgen M., Schilling B. et al. Interaction with podocin facilitates nephrin signaling // J. Biol. Chem. 2001. Vol. 276. P. 41543-41546.
  61. Huber T.B., Simons M., Hartleben B. et al. Molecular basis of the functional podocin-nephrin complex: mutations in the NPHS2 gene disrupt nephrin targeting to lipid raft microdomains // Hum. Mol. Genet. 2003. Vol. 12. P. 3397-3405.
  62. Izu A., Yanagida H., Sugimoto K., Fujita S. et al. Pathogenesis of Focal Segmental Glomerular Sclerosis in a Girl with the Partial Deletion of Chromosome 6p // Tohoku J. Exp. Med. 2011. Vol. 223. P. 187-192.
  63. Jacobo S.M.P., Billing D., Chiang W.C. et al. TRPC6 channel signaling in response to angiotensin II type I receptors is essential for the preservation of the podocytes cytosceletоn // Presented at the ASN Confererence. San Diego, 2009. October 29 - November 1.
  64. Jeanpierre C., Denamur E., Henry I. et al. Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotype correlations by use of a computerized mutation database // Am. J. Hum. Genet. 1998. Vol. 62. P. 824-833.
  65. Jefferson J.A., Nelson P.J., Najafian B., Shankland S.J. Podocyte disorders: core curriculum 2011 // Am. J. Kidney. Dis. 2011. Vol. 58. P. 666-677.
  66. Johnstone D.B., Holzman L.B. Clinical impact of research on the podocyte slit diaphragm // Nat. Clin. Prac. Nephrol. 2006. Vol. 2. P. 271-283.
  67. Kambham N., Tanji N., Seigle R.L. et al. Congenital focal segmental glomerulosclerosis associated with beta4 integrin mutation and epidermolysis bullosa // Am. J. Kidney Dis. 2000. Vol. 36. P. 190-196.
  68. Kao W.H., Klag M.J., Meoni L.A., Reich D. et al. MYH9 is associated with non-diabetic end-stage renal disease in African Americans // Nat. Genet. 2008. Vol. 40. P. 1185-1192.
  69. Kaplan J.M., Kim S.H., North K.N. et al. Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis // Nat. Genet. 2000. Vol. 24. P.251-256.
  70. Kaplinsky C., Ghahremani M., Frishberg Y. et al. Familial Wilms’ tumor associated with WT1 zinc finger mutation // Genomics. 1996. Vol. 38. P. 451-453.
  71. Karamatic C.V., Burton N., Kagan A., et al. CD151, the first member of the tetraspanin (TM4) superfamily detected on erythrocytes, is essential for the correct assembly of human basement membranes in kidney and skin // Blood. 2004. Vol. 104. P. 2217-2223.
  72. Karle S.M., Uetz B., Ronner V. et al. Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant idiopathic nephrotic syndrome // J. Am. Soc. Nephrol. 2002. Vol. 13. P. 388-393.
  73. Kestila M., Lenkkeri U., Mannikko M. et al. Positionally cloned gene for a novel glomerular protein - nephrin is mutated in congenital nephrotic syndrome // Mol. Cell. 1998. Vol. 1. P. 575-582.
  74. Khoshnoodi J., Sigmundsson K., Ofverstedt L.G. et al. Nephrin promotes cell-cell adhesion through homophilic interactions // Am. J. Pathol. 2003. Vol. 163. P. 2337-2346.
  75. Kidney Disease: Improving Global Outcomes (KDIGO) Glomerulonephritis Work Group (2012) KDIGO Clinical Practice Guideline for Glomerulonephritis // Kidney Int. 2012. Suppl 2. P. 139-274.
  76. Kim J.M., Wu H., Green G. et al. CD2-associated protein haploinsufficiency is linked to glomerular disease susceptibility // Science. 2003. Vol. 300. P. 1298-1300.
  77. Knoll G.A. Proteinuria in kidney transplant recipients: prevalence, prognosis, and evidence-based management // Am. J. Kidney. Dis. 2009. Vol. 54. P. 1131-1144.
  78. Kopp J.B., Smith M.W., Nelson G.W. et al. MYH9 is a major-effect risk gene for focal segmental glomerulosclerosis // Nat. Genet. 2008. Vol. 40. P. 1175-1184.
  79. Koziell A, Grech V, Hussain S, et al. Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration // Hum. Mol. Genet. 2002. Vol. 11. P. 379-388.
  80. Koziell A.B., Grundy R., Barrat T.M. et al. Evidence for the genetic heterogeneity of nephropathic phenotypes associated with Denys-Drash and Frasier syndromes // Am. J. Hum. Genet. 1999. Vol. 64. P. 1778-1781.
  81. Kranz C., Denecke J., Lehle L., Sohlbach K. et al. Congenital disorder of glycosylation type Ik (CDG-Ik): a defect of mannosyltransferase I // Am. J. Hum. Genet. 2004. Vol. 74. P. 545-551.
  82. Kriz W., Hackenthal E., Nobiling R. et al. A role for podocytes to counteract capillary wall distension // Kidney Int. 1994. Vol. 45. P. 369-376.
  83. Kuwahara K., Wang Y., McAnally J. et al. TRPC6 fulfills a calcineurin signaling circuit during pathologic cardiac remodeling // J. Clin. Invest. 2006. Vol. 116. P. 3114-3126.
  84. Lahdenkari A.T., Kestila M., Holmberg C. et al. Nephrin gene (NPHS1) in patients with minimal change nephrotic syndrome (MCNS) // Kidney Int. 2004. Vol. 65. P. 1856-1863.
  85. Lenkkeri U., Mannikko M., McCready P. et al. Structure of the gene for congenital nephrotic syndrome of the Finnish type (NPHS1) and characterization of mutations // Am. J. Hum. Genet. 1999. Vol. 64. P. 51-61.
  86. Lewis M.A., Shaw J., Sinha M.D. et al. UK Renal Registry 12th Annual Report: chapter 14: demography of the UK paediatric renal replacement therapy population in 2008 // Nephron. Clin. Pract. 2010. Vol. 115. P. 279-288.
  87. Lipska B.S., Iatropoulos P., Maranta R, et al. Genetic screening in adolescents with steroid-resistant nephrotic syndrome // Kidney Int. 2013. Vol. 84. P. 206-213.
  88. 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. Vol. 112. P. 209-221.
  89. Looij B.J.Jr., te Slaa R.L., Hogewind B.L., van de Kamp J.J. Genetic counselling in hereditary osteo-onychodysplasia (HOOD, nail-patella syndrome) with nephropathy // J. Med. Genet. 1988. Vol. 25. P. 682-686.
  90. Lopez L.C., Schuelke M., Quinzii C.M., et al. Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations // Am. J. Hum. Genet. 2006. Vol. 79. P. 1125-1129.
  91. Machuca E., Benoit G, Antignac C. Genetics of nephrotic syndrome: connecting molecular genetics to podocyte physiology // Hum. Mol. Genet. 2009. Vol. 15. P. 185-194.
  92. Machuca E., Benoit G., Nevo F. Genotype-phenotype correlations in non-Finish congenital nephrotic syndrome // J. Am. Soc. Nephrol. 2010. Vol. 21. P. 1209-1217.
  93. Machuca E., Esquivel E. L., Antignac C. Idiopathic Nephrotic Syndrome: Genetic Aspects. In: Pediatric Nephrology. Ellis D. Avner, William E. Harmon, Patrick Niaudet, Norishige Yoshikawa (Eds.). 6th ed. Springer-Verlag Berlin Heidelberg 2009. P. 643-666.
  94. 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. Vol. 24. P. 2051-2053.
  95. Mark K., Reis A., Zenker M. Prenatal findings in four consecutive pregnancies with fetal Pierson syndrome, a newly defined congenital nephrosis syndrome // Prenat. Diagn. 2006. Vol. 26. P. 262-266.
  96. Martinelli R., Okumura A.S., Pereira L.J., Rocha H. Primary focal segmental glomerulosclerosis in children: prognostic factors // Pediatr. Nephrol. 2001. Vol. 16. P. 656-661.
  97. McDonald S.P., Craig J.C. Australian and New Zealand Paediatric Nephrology Association. Long-term survival of children with end-stage renal disease // N. Engl. J. Med. 2004. Vol. 350. P. 2654-2662.
  98. McKenzie L.M., Hendrickson S.L., Briggs W.A. et al. NPHS2 Variation in sporadic focal segmental glomerulosclerosis // J. Am. Soc. Nephrol. 2007. Vol. 18. P. 2987-2995.
  99. McKinney P.A., Feltbower R.G., Brocklebank J.T. et al. Time trends and ethnic patterns of childhood nephrotic syndrome in Yorkshire, UK // Pediatr. Nephrol. 2001. Vol. 16. P. 1040-1044.
  100. Mele C., Latropoulos P., Donadelli R. et al. MYO1E mutations and childhood familial focal segmental glomerulosclerosis // New Engl. J. Med. 2011. Vol. 365. P. 295-306.
  101. Möller C.C, Wei C., Altintas M.M. et al. Induction of TRPC6 channel in acquired forms of proteinuric kidney disease // J. Am. Soc. Nephrol. 2007. Vol. 18. P. 29-36.
  102. Möller C.C., Flesche J., Reiser J. Sensitizing the slit diaphragm with TRPC6 ion channels // J. Am. Soc. Nephrol. 2009. Vol. 20. P. 950-953.
  103. Mucha B., Ozaltin F., Hinkes B.G. et al. Mutations in the Wilms’ tumor 1 gene cause isolated steroid resistant nephrotic syndrome and occur in exons 8 and 9 // Pediatr. Res. 2006. Vol. 59. P. 325-331.
  104. Mukerji N., Damodaran T.V., Winn M.P. TRPC6 and FSGS: the latest TRP channelopathy // Biochim. Biophys. Acta. 2007. Vol. 1772. P. 859-868.
  105. Mundel P., Reiser J. Proteinuria: an enzymatic disease of the podocyte? // Kidney Int. 2010. Vol. 77. P. 571-580.
  106. Nathanson S., Cochat P., Andre J.L. et al. Recurrence of nephrotic syndrome after renal transplantation: influence of increased immunosupression // Pediatr. Nephrol. 2005. Vol. 20. P. 1801-1804.
  107. Neal C.R., Crook H., Bell E., Harper S.J., Bates D.O. Three-dimensional reconstruction of glomeruli by electron microscopy reveals a distinct restrictive urinary subpodocyte space // J. Am. Soc. Nephrol. 2005. Vol. 16. P. 1223-1235.
  108. Niaudet P., Boyer O. Idiopathic nephrotic syndrome in children: clinical aspects. In: Avner E.D., Harmon W.E., Niaudet P., Yoshikawa N. (ed.) Pediatric nephrology. 6th edition. Springer-Verlag Berlin, Heidelberg. 2009. P. 667-702.
  109. Nijenhuis T., Hoenderop J., Flesche J. et al. Angiotensin II-mediated upregulation of TRPC6 expression via calcineurin/NFAT signaling in podocyte injury // J. Am. Soc. Neprol. 2009. Vol. 20. 319A (abstract TH-P0910).
  110. Nishibori Y., Liu L., Hosoyamada M. et al. Disease-causing missense mutations in NPHS2 gene alters normal nephrin trafficking to the plasma membrane // Kidney Int. 2004. Vol. 66. P. 1755-1765.
  111. North American Pediatric Renal Transplant Cooperative Study (NAPRTCS) // Annual report. 2008. The EMMES Corporation, Rockville, MD.
  112. Obeidova H., Merta M., Reiterova J. et al. Genetic basis of nephrotic syndrome - review // Prague Med. Rep. 2006. Vol. 107. P. 5-16.
  113. Ozaltin F., Ibsirlioglu T., Taskiran E.Z. et al. Disruption of PTPRO causes childhood-onset nephrotic syndrome // Am. J. Hum. Genet. 2011. Vol. 89. P. 139-147.
  114. Ozaltin F., Li B., Rauhauser A., An S.-W., Soylemezoglu O. et al. DGKE variants cause a glomerular microangiopathy that mimics membranoproliferative GN // J. Am. Soc. Nephrol. 2013. Vol. 24. P. 377-384.
  115. Pelletier J., Bruening W., Kashtan C.E. et al. Germline mutations in the Wilms’ tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome // Cell. 1991. Vol. 67. P. 437-447.
  116. Pelletier J., Bruening W., Li F. et al. WT1 mutations contribute to abnormal genital system development and hereditary Wilms’ tumour // Nature. 1991. Vol. 353. P. 431-434.
  117. Peti-Peterdi J., Sipos A. A high-powered view of the filtration barrier // J. Am. Soc. Nephrol. 2010. Vol. 21. Р. 1835-1841.
  118. Philippe A., Nevo F., Esquivel E. et al. Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome // J. Am. Soc. Nephrol. 2008. Vol. 19. P. 1871-1878.
  119. Pierson M., Crdier J., Hervouuet F. et al. An unusual congenital and familial congenital malformative combination involving the eye and the kidney // J. Genet. Hum. 1963. Vol. 12. P. 184-213.
  120. Putaala H., Soininen R., Kilpelainen P. et al. The murine nephrin gene is specifically expressed in kidney, brain and pancreas: inactivation of the gene leads to massive proteinuria and neonatal death // Hum. Mol. Genet. 2001. Vol. 10. P. 1-8.
  121. Ransom R.F., Lam N.G., Hallett M.A. et al. Glucocorticoids protect and enhance recovery of cultured murine podocytes via actin filament stabilization // Kidney Int. 2005. Vol. 68. P. 2473-2483.
  122. Reiser J., Kriz W., Kretzler M., Mundel P. The glomerular slit diaphragm is a modified adherens junction // J. Am. Soc. Nephrol. 2000. Vol. 11. P. 1-8.
  123. Reiser J., Polu K.R., Moller C.C. et al. TRPC6 is a glomerular slit diaphragm-associated channel required for normal renal function // Nat. Genet. 2005. Vol. 37. P. 739-744.
  124. Rood I.M., Deegens J.K.J., Wetzels J.F.M. Genetic causes of focal segmental glomerulosclerosis: implications for clinical practice // Nephrol. Dial. Transplant. 2012. Vol. 27. P. 1-9.
  125. Roselli S., Gribouval O., Boute N. et al. Podocin localizes in the kidney to the slit diaphragm area // Am. J. Pathol. 2002. Vol. 160. P. 131-133.
  126. Roselli S., Heidet L., Sich M. et al. Early glomerular filtration defect and severe renal disease in podocin-deficient mice // Mol. Cell Biol. 2004. Vol. 24. P. 550-560.
  127. Ruf R.G., Lichtenberger A., Karle S.M. et al. Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome // J. Am. Soc. Nephrol. 2004. Vol. 15. P. 722-732.
  128. Salem M.A. New developments in steroid-resistant idiopathic nephrotic syndrome // Pediatr. Nephrol. 2013. Vol. 28. P. 699-709.
  129. Salem M.A., O’Hare M.J., Reiser J. et al. A conditionally immortalized human podocite cell line demonstrating nephrin and podocin expression // J. Am. Soc. Nephrol. 2002. Vol. 13. P. 630-638.
  130. Santin S., Ars E., Rossetti S. et al. TRPC6 mutational analysis in a large cohort of patients with focal segmental glomerulosclerosis // Nephrol. Dial. Transplant. 2009. Vol. 24. P. 3089-3096.
  131. Santin S., Bullich G., Tazon-Vega B. et al. Clinical utility of genetic testing in children and adults with steroid-resistant nephrotic syndrome // Clin. J. Am. Soc. Nephrol. 2011. Vol. 6. P. 1139-1148.
  132. Santin S., Garcia-Maset R., Ruız P. et al. Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis // Kidney Int. 2009. Vol. 76. P. 1268-1276.
  133. Santin S., Tazon-Vega B., Silva I. Clinical value of NPHS2 analysis in early- and adult-onset steroid-resistant nephrotic syndrome // Clin. J. Am. Soc. Nephrol. 2011. Vol. 6. P. 344-354.
  134. Schaefer M. Homo- and heteromeric assembly of TRP channel subunits // Pflugers. Arch. 2005. Vol. 451. P. 35-42.
  135. Schlöndorff J., Del Camino D., Carrasquillo R. et al. TRPC6 mutations associated with focal segmental glomerulosclerosis cause constitutive activation of NFAT-dependent transcription // Am. J. Physiol. Cell Physiol. 2009. Vol. 296. P. 558-569.
  136. Schoeb S.D., Chernin G., Heeringa S.F. et al. Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS) // Nephrol. Dial. Transplant. 2010. Vol. 25. P. 2970-2976.
  137. Schonenberger E., Ehrich J.H., Haller H., Schiffer M. The podocyte as a direct target of immunosuppressive agents // Nephrol. Dial. Transplant. 2011. Vol. 26. P. 18-24.
  138. Schultheiss M., Ruf R.G., Mucha B.E. et al. No evidence for genotype/phenotype correlation in NPHS1 and NPHS2 mutations // Pediatr. Nephrol. 2004. Vol. 19. P. 1340-1348.
  139. 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. Vol. 108. P. 1621-1629.
  140. Schwarz M., Thiel C., Lubbehusen J. et al. Deficiency of GDP-Man: GlcNAc2-PP-dolichol mannosyltransferase causes congenital disorder of glycosylation type Ik // Am. J. Hum. Genet. 2004. Vol. 74. P. 472-481.
  141. Shankland S.J., Pippin J.W., Reiser J., Mundel P. Podocytes in culture: past, present, and future // Kidney Int. 2007. Vol. 72. P. 26-36.
  142. Shih N.Y., Li J., Karpitskii V. et al. Congenital NS in mice lacking CD2-associated protein // Science. 1999. Vol. 286. P.312-315.
  143. St John P.L., Abrahamson D.R. Glomerular endothelial cells and podocytes jointly synthesize laminin-1 and -11 chains // Kidney. Int. 2001. Vol. 60. P. 1037-1046.
  144. Sweeney E., Fryer A., Mountford R., Green A., McIntosh I. Nail patella syndrome: A review of the phenotype aided by developmental biology. // J. Med. Genet. 2003. Vol. 40. P. 153-162.
  145. Tian D., Jacobo SM., Billing D. et al. Antagonistic regulation of actin dynamics and cell motility by TRPC5 and TRPC6 channels // Sci. Signal. 2010: ra77.
  146. Tonna S.J., Needham A., Polu K. et al. NPHS2 variation in focal and segmental glomerulosclerosis // BMC Nephrol. 2008. Vol. 9. P. 13.
  147. Topham P.S., Kawachi H., Haydar S.A. et al. Nephritogenic mAb 5-1-6 is directed at the extracellular domain of rat nephrin // J. Clin. Invest. 1999. Vol. 104. P. 1559-1566.
  148. Tryggvason K. Unraveling the mechanisms of glomerular ultrafiltration: nephrin, a key component of the slit diaphragm // J. Am. Soc. Nephrol. 1999. Vol. 10. P. 2440-2445.
  149. Tryggvason K., Wartiovaara J. Molecular basis of glomerular permselectivity // Curr. Opin. Nephrol. Hypertens. 2001. Vol. 10. P. 543-549.
  150. Tsukaguchi H., Sudhakar A., Le T.C. et al. NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele // J. Clin. Invest. 2002. Vol. 110. P. 1659-1666.
  151. Van der Knaap M.S., Wevers R.A., Monnens L. et al. Congenital nephrotic syndrome: a novel phenotype of type 1 carbohydrate-deficient glycoprotein syndrome // J. Inherit. Metab. Dis. 1996. Vol. 19. P. 787-791.
  152. Weber S., Gribouval O., Esquivel E. et al. NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence // Kidney Int. 2004. Vol. 66. P. 571-579.
  153. Wei C., Moller C.C., Altintas M.M. et al. Modification of kidney barrier function by the urokinase receptor // Nat. Med. 2008. Vol. 14. P. 55-63.
  154. Weins A., Kenlan P., Herbert S. et al. Mutational and biological analysis of alpha-actinin-4 in focal segmental glomerulosclerosis // J. Am. Soc. Nephrol. 2005. Vol. 16. P. 3694-3701.
  155. Welsh G.I., Saleem M.A. The podocyte cytoskeleton - key to a functioning glomerulus in health and disease // Nature. 2012. Vol. 8. P. 14-21.
  156. Wernerson A., Duner F., Pettersson E. et al. Altered ultrastructural distribution of nephrin in minimal change nephrotic syndrome // Nephrol. Dial. Transplant. 2003. Vol. 18. P. 70-76.
  157. Winn M.P., Conlon P.J., Lynn K.L. et al. A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis // Science. 2005. Vol. 308. P. 1801-1804.
  158. Yan K., Kudo A., Hirano H. et al. Subcellular localization of glucocorticoid receptor protein in the human kidney glomerulus // Kidney Int. 1999. Vol. 56. P. 65-73.
  159. Yasukawa T., Suzuki T., Suzuki T. et al. Modification defect at anticodon wobble nucleotide of mitochondrial tRNAs-Leu (UUR) with pathogenic mutations of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes // J. Biol. Chem. 2000. Vol. 275. P. 4251-4257.
  160. 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. Vol. 13. P. 2625-2632.
  161. Zhang S.Y., Marlier A., Gribouval O. et al. In vivo expression of podocyte slit diaphragm-associated proteins in nephrоtic patients with NPHS2 mutation // Kidney Int. 2004. Vol. 66. P. 945-954.

Другие статьи по теме


Навигация по статьям
Разделы журнала
Наиболее читаемые статьи
Журнал "Нефрология и диализ"