Predictive medicine and clinical nephrology


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Аннотация

Обсуждаются перспективы внедрения принципов персонифицированной медицины в клиническую нефрологию.

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Толық мәтін

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Авторлар туралы

N. Moukhin

Email: moukhin-nephro@yandex.ru

Әдебиет тізімі

  1. Siena S., Sartore-Bianchi A., Di Nicolantonio F. et al. Biomarkers predicting clinical outcome of epidermal growth factor receptor-targeted therapy in metastatic colorectal cancer. J Natl Cancer Inst. 2009;101(19): 1308—1324.
  2. Cappuzzo F., Hirsch F.R., Rossi E. et al. Epidermal growth factor receptor gene and protein and gefitinib sensitivity in non-small-cell lung cancer. J Natl Cancer Inst. 2005; 97(9): 643-655.
  3. Garcia-Donas J., Esteban E., Leandro-García L.J. et al. Single nucleotide polymorphism associations with response and toxic effects in patients with advanced renal-cell carcinoma treated with first-line sunitinib: a multicentre, observational, prospective study. Lancet Oncol. 2011; 12(12): 1143-1150.
  4. Rini B.I., Cohen D.P., Lu D.R. et al. Hypertension as a biomarker of efficacy in patients with metastatic renal cell carcinoma treated with sunitinib. J Natl Cancer Inst. 2011; 103(9): 763-773.
  5. Lampreabe I., Gainza de los Rios F.J., Arrieta Gutiérrez A. et al. Toward personalized medicine in renal transplantation. Transplant Proc. 2010; 42(8): 2864-2867.
  6. Игнатова М.С., Шатохина О.В. Диагностика и лечение нефротического синдрома у детей. М., МИА, 2009.
  7. Fuchshuber A., Jean G., Gribouval A. et al. Congenital nephrotic syndrome of the Finnish-type: linkage to the locus in a non-Finnish population. Pediatr Nephrol. 1996; 10: 135-138.
  8. Caridi G., Perfumo F, Ghiggeri G.M. NPHS2 (Podocin) mutations in nephrotic syndrome. Clinical spectrum and fine mechanisms. Pediatr Res. 2005; 57(5 Pt 2):54R-61R.
  9. Hildebrandt F., Heeringa S.F. Specific podocin mutations determine age of onset of nephrotic syndrome all the way into adult life. Kidney Int. 2009; 75(7): 669-671.
  10. Sanchez-Ares M., Garcia-Vidal M., Antucho E.E. et al. A novel mutation, outside of the candidate region for diagnosis, in the inverted formin 2 gene can cause focal segmental glomerulosclerosis. Kidney Int. 2012 Sep 12. doi: 10.1038/ki.2012.325. [Epub ahead of print]
  11. Barua M., Brown E.J., Charoonratana V.T. et al. Mutations in the INF2 gene account for a significant proportion of familial but not sporadic focal and segmental glomerulosclerosis. Kidney Int. 2012 Sep 26. doi: 10.1038/ ki.2012.349. [Epub ahead of print]
  12. Eng C.M., Germain D.P., Banikazemi M. et al. Fabru disease: guidelines for the evaluation and management of multi-organ system involvement. Genet Med 2006; 8(9): 539-548.
  13. Eng C.M., Fletcher J., Wilcox W.R. et al. Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry. J Inherit Metab Dis 2007; 30(2): 184-192.
  14. Nakao S., Kodama C., Takenaka T. et al. Fabry disease: detection of undiagnosed hemodialysis patients and identification of a “renal variant” phenotype. Kidney Int. 2003; 64(3): 801-807.
  15. Kotanko P., Kramar R., Devrnja D. et al. Results of a nationwide screening for Anderson-Fabry disease among dialysis patients. J. Am. Soc. Nephrol. 2004; 15(5): 1323-1329.
  16. Ichinose M., Nakayama M., Ohashi T. et al. Significance of screening for Fabry disease among male dialysis patients. Clin. Exp. Nephrol. 2005; 9(3): 228-232.
  17. Fogo A.B., Bostad L., Svarstad E. et al. Scoring system for renal pathology in Fabry disease: report of the International Study Group of Fabry Nephropathy (ISFGN). Nephrol. Dial. Transplant. 2010; 25(7): 2168-2177.
  18. Germain D.P., Waldek S., Banikazemi M. et al. Sustained, long-term renal stabilization after 54 moths of agalsidase therapy in patients with Fabry disease. J. Am. Soc. Nephrol. 2007; 18: 1547-1557.
  19. Banikazemi M., Bultas J. Waldeck S. et al. Agalsidase-beta therapy for advanced Fabry disease. A randomized trial. Ann. Intern. Med. 2007; 146: 77-86.
  20. Фомин В.В., Пулин А.А., Рамеев В.В. и др. Болезнь Фабри с поражением почек с протеинурией и гипертрофической кардиомиопатией, ошибочно интерпретированная как хронический гломерулонефрит при пурпуре Шенлейна-Геноха. Клин. нефрология. 2010; 5: 70-78.
  21. Benetti E., Caridi G., Malaventura C. et al. A novel WT1 gene mutation in a three-generation family with progressive isolated focal segmental glomerulosclerosis. Clin. J. Am. Soc. Nephrol. 2010;5(4): 698-702.
  22. Orloff M.S., Iyengar S.K., Winkler C.A. et al. Variants in the Wilms' tumor gene are associated with focal segmental glomerulosclerosis in the African American population. Physiol. Genomics. 2005; 21(2): 212-221.
  23. 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; 296(3): C558-C569.
  24. Kopp J.B., Smith M.W., Nelson G.W. et al. MYH9 is a maaor-effect risk gene for focal segmental glomerulosclerosis. Nat. Genet. 2008; 40(10): 1175-1184.
  25. Freedman B.I, Hicks P.J., Bostrom M.A. et al. Polymorphisms in the nonmuscle myosin heavy chain 9 gene (MYH9) are strongly associated with endstage renal disease historically attributed to hypertension in African Americans. Kidney Int. 2009; 75(7): 736-745.
  26. Freedman B.I., Hicks P.J., Bostrom M.A. et al. Non-muscle myosin heavy chain 9 gene MYH9 associations in African Americans with clinically diagnosed type 2 diabetes mellitus-associated ESRD. Nephrol. Dial. Transplant. 2009; 24(11): 3366-3371.
  27. Kopp J.B., Winkler C.A., Nelson G.W. MYH9 genetic variants associated with glomerular disease: what is the role for genetic testing? Semin Nephrol. 2010; 30(4): 409-417.
  28. Johnstone D.B., Zhang J., George B. et al. Podocyte-specific deletion of Myh9 encoding nonmuscle myosin heavy chain 2A predisposes mice to glomerulopathy. Mol Cell Biol. 2011; 31(10): 2162-2170.
  29. Cheng W., Zhou X., Zhu L. et al. Polymorphisms in the nonmuscle myosin heavy chain 9 gene (MYH9) are associated with the progression of IgA nephropathy in Chinese. Nephrol Dial Transplant. 2011; 26(8): 2544-2549.
  30. Löwik M.M., Groenen P.J., Levtchenko EN. Molecular genetic analysis of podocyte genes in focal segmental glomerulosclerosis - a review. Eur. J. Pediatr. 2009; 168(11): 1291-1304.
  31. Franceschini N., North K.E., Kopp J.B. et al. NPHS2 gene, nephrotic syndrome and focal segmental glomerulosclerosis: a HuGE review. Genet. Med. 2006; 8(2): 63-75.
  32. Brown E.J., Schlöndorff J.S., Becker D.J. et al. Mutations in theformin gene INF2 cause focal segmental glomerulosclerosis. Nat. Genet. 2010; 42(1): 72-76.
  33. Cohen C.D., Calvaresi N., Armelloni S. et al. CD20-positive infiltrates in human membranous glomerulonephritis. J Nephrol. 2005; 18: 328-333.
  34. Пулин А.А., Горностаева Е.Ю., Рощупкина С.В. и др. Эффективность лечения ритуксимабом больного идиопатической мембранозной нефропатией, резистентной к стандартной иммуносупрессивной терапии. Клин. нефрология. 2011; 5: 72-77.
  35. Ruggenenti P., Cravedi P., Sghirlanzoni M.C. et al. Effects of rituximab on morphofunctional abnormalities of membranous glomerulopathy. Clin J Am Soc Nephrol. 2008; 3: 1652-1659.
  36. Мухин Н.А., Семенкова Е.Н., Кривошеев О.Г., Новиков П.И. Применение ритуксимаба при тяжелых АНЦА-ассоциированных системных васкулитах. Клиническая нефрология. 2010; 2: 40-45.
  37. Chen C.C., Geurts A.M., Jacob H.J. et al. Heterozygous knockout of transforming growth factor-ß1 protects Dahl S rats against high salt-induced renal injury. Physiol Genomics. 2012 Dec 18. [Epub ahead of print].

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