Preview

Нефрология

Расширенный поиск

АУТОСОМНО-ДОМИНАНТНЫЙ ПОЛИКИСТОЗ ПОЧЕК У ВЗРОСЛЫХ И ДЕТЕЙ

https://doi.org/10.24884/1561-6274-2010-14-3-58-68

Полный текст:

Аннотация

Данный обзор является обобщением современных представлений о генетике, механизмах развития, клинике, диагностике аутосомно-доминантного поликистоза почек (АДПП). Представлены количественная и качественная характеристика мутаций в генах, ответственных за развитие заболевания, новейшие критерии УЗИ-диагностики АДПП, препараты для патогенетической терапии АДПП, которые проходят III фазу контролируемых клинических исследований.

Об авторах

С. С. Арутюнян
Санкт-Петербургская государственная педиатрическая медицинская академия
Россия
кафедра факультетской педиатрии


Н. Д. Савенкова
Санкт-Петербургская государственная педиатрическая медицинская академия
Россия

кафедра факультетской педиатрии

Санкт-Петербург, ул. Литовская, д. 2.



В. И. Ларионова
Санкт-Петербургская государственная педиатрическая медицинская академия
Россия

лаборатория молекулярной диагностики с расширенной группой по экогенетике Научно-исследовательского центра



Список литературы

1. Bergmann C, Zerres K. Polycystic Kidney Disease: ADPKD and ARPKD. In:Comprehensive Pediatric Nephrology. Geary DF, Schaefer-Mosby F. eds. Elsevier, 2008;155-178

2. Dell K,Sweeney WE. Polycystic Kidney Disease. In:Pediatric Nephrology-Sixth editionAvner E.D., Harmon WE , Niaudet P, Yoshikawa N. eds. Springer, 2009; 849-887

3. Somlo S, Guay-Woodford LM. Polycystic Kidney Disease. In: Genetic Diseases of the Kidney. Lifton R, Somlo S, Giebisch G, Donald W.et al: Elsevier 2009; 393-424

4. Wilson PD. Polycystic kidney disease. N Engl J Med 2004; 350:151-164

5. Paterson A, Pei Y. A third gene for autosomal dominant polycystic kidney disease? Kidney Int 1998; 54: 1759-1761

6. Paterson AD, Wang KR, Lupea D, St George-Hyslop P et al. Recurrent fetal loss associated with bilineal inheritance of type 1 autosomal dominant polycystic kidney disease. Am J Kidney Dis 2002; 40(1):16-20

7. Martin J, Han C, Gordon LA et al. The sequence and analysis of duplication-rich human chromosome 16. Nature 2004; 432: 988-994

8. Nilius B, Owsianik G, Voets T, Peters JA. Transient receptor potential cation channels in disease. Physiol Rev 2007; 87: 165-217

9. Huang AL, Chen X, Hoon MA et al. The cells and logic for mammalian sour detection. Nature 2006; 442: 934-938

10. Driscoll JA, Bhalla S, Liapis H, Ibricevic A et al. Autosomal dominant polycystic kidney disease is associated with an increased prevalence of radiographic bronchiectasis. Chest 2008;133(5):1181-1198

11. Scheffers MS, van der BP, Prins F et al. Polycystin-1, the prod-uct of the polycystic kidney disease 1 gene, co-localizes with desmosomes in MDCK cells. Hum Mol Genet 2000; 9: 2743-2750

12. Li A, Tian X, Sung SW, Somlo S. Identification of two novel polycystic kidney disease 1-like genes in human and mouse genomes. Genomics 2003; 82: 498-500

13. Hidaka S, Konecke V, Osten L et al. PIGEA-14, a novel coiled-coil protein affecting the intracellular distribution of polycystin-2. J Biol Chem 2004; 279:35009-35016

14. Reeders ST. Multilocus polycystic disease. Nat Genet 1992;1:235-237

15. Jiang ST, Chiou YY et al. Defining a link with ADPKD in mice with con-genitally low expression of Pkdl. Am J Pathol 2006;8: 205-220

16. Thivierge C, Kurbegovic A, Couillard M, Guillaume R et al. Overexpression of PKD1 causes polycystic kidney disease. Mol Cell Biol 2006; 26: 1538

17. Shibazaki S, Yu Z, Nishio S et al. Cyst formation and activation of the extracellular regulated kinase pathway after kidney specific inactivation of Pkdl. Hum Mol Genet 2008; 17: 1505-1516

18. Hateboer N, van Dijk MA, Bogdanova N, Coto E et al. Comparison of phenotypes of polycystic kidney disease types 1 and 2. Lancet 1999;353: 103-107

19. Torra R, Badenas C, Perez-Oiler L et al. Increased prevalence of polycystic kidney disease type 2 among elderly polycystic patients. Am J Kidney Dis 2000; 36: 728-734

20. Barua M, Cil O, Paterson AD, Wang K et al. Family history of renal disease severity predicts the mutated gene in ADPKD. J Am Soc Nephrol 2009; 20(8):1833-1838

21. Harris PC, Bae K, Rossetti S et al. Cyst number but not the rate of cystic growth is associated with the mutated gene in ADPKD. J Am Soc Nephrol 2006;17: 3013-3019

22. Rossetti S, Chauveau D, Kubly V, Slezak J et al. Association of mutation position in polycystic kidney disease 1 (PKD1) gene and development of a vascular phenotype. Lancet 2003; 361:2196-2201

23. Peral B, Ong A, San Millan JL et al. A stable, nonsense mutation associated with a case of infantile onset polycystic kidney disease 1. Hum Mol Genet 1996; 5: 539-542

24. Tazon-Vega B, Vilardell M, Perez-Oiler L et al. Study of candi-date genes affecting the progression of renal disease in auto-somal dominant polycystic kidney disease type 1. Nephrol Dial Transplant 2007; 22: 1567-1577

25. Belibi FA, Wallace DP, Yamaguchi T, Christensen M et al. The effect of caffeine on renal epithelial cells from patients with autosomal dominant polycystic kidney disease. J Am Soc Nephrol 2002; 13: 2723-2729

26. Wilson PD. Polycystic kidney disease: new understanding in the pathogenesis. Int J Biochem Cell Biol 2004; 36:1868-1873

27. Ostrom L, Tang M, Gruss P, Dressler G. Reduced Pax2 gene dosage increases apoptosis and slows the progression of renal cystic disease. Dev Biol 2000; 219(2): 250-258

28. Grantham JJ. Mechanisms of progression in autosomal dominant polycystic kidney disease. Kidney Int 1997; 63: 93-97

29. Nakamura T, Ushiyama C et al. Elevation of serum levels of metalloproteinase-1, tissue inhibitor of metalloproteinase-1 and type IV collagen, and plasma levels of metalloproteinase-9 in polycystic kidney disease. Am J Nephrol 2000; 20(1):32-36

30. Torres VE, Harris PC. Autosomal dominant polycystic kidney disease: the last 3 years. Kidney Int 2009;76:149-168

31. Belibi FA, Edelstein CL. Novel targets for the treatment of autosomal dominant polycystic kidney disease. Expert Opin Investig Drugs 2010;19(3):315-328

32. Harris PC, Torres VE. Autosomal dominant polycystic disease in GeneClinics: Clinical Genetic Information Recourse [database online]. Copyright. University of Washington, Seattle. Available at http://www.geneclinics.org. Initial Posting: January 10, 2002. Last Revision: June 2, 2009

33. Nishiura JL, Neves RF, Eloi SR, Cintra SM et al. Evaluation of nephrolithiasis in autosomal dominant polycystic kidney disease patients. Clin J Am Soc Nephrol 2009; (4), 838-844

34. Shamshirsaz A, Bekheirnia M et al. Autosomal-dominant polycystic kidney disease in infancy and childhood: progression and outcome. Kidney Int 2005; 68, 2218-2224

35. Андреева ЭФ. Клинико-генетическое исследование детей и подростков с поликистозом почек: Автореф. дис. канд. мед. наук. СПбГПМА. Спб., 2008;18

36. Ecder T, Schrier R. Cardiovascular abnormalities inautosomaldominant polycystic kidney disease. Nat Rev Nephrol 2009; 5: 221-222

37. Qian Q, Hunter LW, Du H, Ren Q, Han Y, Sieck GC. Pkd2+/- vascular smooth muscles develop exaggerated vasocontraction in response to phenylephrine stimulation. J Am Soc Nephrol 2007;18(2):485-493

38. Torres VE, Harris PC, Pirson Y. Autosomal dominant polycystic kidney disease. Lancet 2007; 369: 1287-1301

39. Bae KT, Zhu F, Chapman AB, Torres VE et al. CRISP Consortium; Magnetic resonance imaging evaluation of hepatic cysts in early autosomal-dominant polycystic kidney disease: the consortium for radiologic imaging studies of polycystic kidney disease cohort. Clin J Am Soc Nephrol 2006;1: 64-69

40. Kumar S, Adeva M, King BF, Kamath PS et al. Duodenal diverticulosis in autosomal dominant polycystic kidney disease. Nephrol Dial Transplant 2006; 21: 3576-3588

41. Torra R, Sarquella J, Calabia J, Martн J et al. Prevalence of cysts in seminal tract and abnormal semen parameters in patients with autosomal dominant polycystic kidney disease.Clin J Am Soc Nephrol 2008;3(3):790-793

42. Leung GK, Fan YW. Chronic subdural haematoma and arachnoid cyst in autosomal dominant polycystic kidney disease (ADPKD). J Clin Neurosci 2005;12(7):817-819

43. Савенкова НД. Нефротический синдром при наследственных заболеваниях. В: Савенкова НД, Папаян АВ, ред. Нефротический синдром в практике педиатра. Эскулап, СПб., 1999; 149-150

44. Осипов ИБ, Колесникова ИФ. Поликистоз почек у детей (классификация, этиопатогенез, клиника, диагностика, лечебная тактика).Методические рекомендации. ГПМА, СПб., 2000; 22 с

45. Pirson Y, Chauveau D, Torres V. Management of cerebral aneurysms in autosomal dominant polycystic kidney disease. J Am Soc Nephrol 2002;13: 269-276

46. Lumiaho A, Ikдheimo R, Miettinen R, Niemitukia L et al. Mitral valve prolapse and mitral regurgitation are common in patients with polycystic kidney disease type 1. Am J Kidney Dis 2001; 38(6): 1208-1216

47. Godela M, Fick-Broshnan, Zung V et al. Progression of autosomal-dominant polycystic kidney diseasein children. Kidney Int 2001; 59: 1654-1662

48. Pei Y, Obaji J, Dupuis A, Paterson A. Unified Criteria for Ultrasonographic Diagnosis of ADPKD. J Am Soc Nephrol 2009; 20: 205-212

49. Wong H, Vivian L, Weiler G, Filler G. Patients with autosomal dominant polycystic kidney disease hyperfiltrate early in their disease. Am J Kidney Dis 2004;43(4):624-628

50. Ravine D, Gibson RN, Walker RG et al. Evaluation of ultrasonographic diagnostic criteria for autosomal dominant polycystic kidney disease 1. Lancet 1994; 343: 824-827

51. Rossetti S, Consugar MB, Chapman AB, Torres VE et al. CRISP Consortium; Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease. J Am Soc Nephrol 2007; 18: 2143-2160

52. Consugar MB, Wong WC, Lundquist PA et al. CRISP Consortium; Characterization of large rearrangements associated in autosomal dominant polycystic kidney disease and the PKD1/TSC2contiguous gene syndrome. Kidney Int 2008; 74: 1468-1479

53. Badani KK, Hemal AK, Menon M. Autosomal dominant polycystic kidney disease and pain – a review of the disease from aetiology, evaluation, past surgical treatment options to current practice. J Postgrad Med 2004;50(3):222-226

54. Ruggenenti P, Remuzzi A, Ondei P et al. Safety and efficacy of long-acting somatostatin treatment in autosomal-dominant polycystic kidney disease. Kidney Int 2005;68(1):206-216

55. Van Keimpema L, Nevens F, Vanslembrouck R, van Oijen MG et al. Lanreotide reduces the volume of polycystic liver: a randomized, double-blind, placebo-controlled trial. Gastroenterology 2009;137(5):1661-1668

56. Torres VE. Role of vasopressin antagonists. Clin J Am Soc Nephrol 2008;3(4):1212-1218

57. Perico N, Antiga L, Caroli A, Ruggenenti P et al. Sirolimus therapy to halt the progression of ADPKD. J Am Soc Nephrol 2010; 21(6):1031-1040

58. Fassett RG, Coombes JS, Packham D, Fairley KF et al. Effect of pravastatin on kidney function and urinary protein excretion in autosomal dominant polycystic kidney disease. Scand J Urol Nephrol 2010; 44(1):56-61


Для цитирования:


Арутюнян С.С., Савенкова Н.Д., Ларионова В.И. АУТОСОМНО-ДОМИНАНТНЫЙ ПОЛИКИСТОЗ ПОЧЕК У ВЗРОСЛЫХ И ДЕТЕЙ. Нефрология. 2010;14(3):58-68. https://doi.org/10.24884/1561-6274-2010-14-3-58-68

For citation:


Arutyunyan S.S., Savenkova N.D., Larionova V.I. AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE IN CHILDREN AND ADULTS. Nephrology (Saint-Petersburg). 2010;14(3):58-68. (In Russ.) https://doi.org/10.24884/1561-6274-2010-14-3-58-68

Просмотров: 62


ISSN 1561-6274 (Print)
ISSN 2541-9439 (Online)