Preview

Nephrology (Saint-Petersburg)

Advanced search

AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE IN CHILDREN AND ADULTS

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

Abstract

This review is a conclusion of up-to-date conceptions about genetics, mechanisms of development, clinical features and diagnostics of autosomal dominant polycystic kidney disease (ADPKD). The quantitative and qualitative description of mutations in causative genes, novel criteria for ultrasound diagnostics of ADPKD and agents for pathogenetic therapy of ADPKD, which are under phase III controlled clinical trials are presented.

About the Authors

S. S. Arutyunyan
Санкт-Петербургская государственная педиатрическая медицинская академия
Russian Federation


N. D. Savenkova
Санкт-Петербургская государственная педиатрическая медицинская академия
Russian Federation


V. I. Larionova
Санкт-Петербургская государственная педиатрическая медицинская академия
Russian Federation


References

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


Review

For citations:


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

Views: 1014


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