Doença renal policística

Referências

Principais artigos

Bergmann C, Guay-Woodford LM, Harris PC, et al. Polycystic kidney disease. Nat Rev Dis Primers. 2018 Dec 6;4(1):50.Texto completo  Resumo

Cornec-Le Gall E, Alam A, Perrone RD. Autosomal dominant polycystic kidney disease. Lancet. 2019 Mar 2;393(10174):919-35. Resumo

Pei Y, Obaji J, Dupuis A, et al. Unified criteria for ultrasonographic diagnosis of ADPKD. J Am Soc Nephrol. 2009 Jan;20(1):205-12.Texto completo  Resumo

Torres VE, Chapman AB, Devuyst O, et al; TEMPO 3:4 Trial Investigators. Tolvaptan in patients with autosomal dominant polycystic kidney disease. N Engl J Med. 2012 Dec 20;367(25):2407-18.Texto completo  Resumo

Schrier RW, Abebe KZ, Perrone RD, et al; HALT-PKD Trial Investigators. Blood pressure in early autosomal dominant polycystic kidney disease. N Engl J Med. 2014 Dec 11;371(24):2255-66. Resumo

Torres VE, Abebe KZ, Chapman AB, et al; HALT-PKD Trial Investigators. Angiotensin blockade in late autosomal dominant polycystic kidney disease. N Engl J Med. 2014 Dec 11;371(24):2267-76. Resumo

Artigos de referência

1. Bergmann C, Guay-Woodford LM, Harris PC, et al. Polycystic kidney disease. Nat Rev Dis Primers. 2018 Dec 6;4(1):50.Texto completo  Resumo

2. Lavu S, Vaughan LE, Senum SR, et al. The value of genotypic and imaging information to predict functional and structural outcomes in ADPKD. JCI Insight. 2020 Aug 6;5(15):e138724.Texto completo  Resumo

3. Shukoor SS, Vaughan LE, Edwards ME, et al. Characteristics of patients with end-stage kidney disease in ADPKD. Kidney Int Rep. 2021 Mar;6(3):755-67.Texto completo  Resumo

4. Cornec-Le Gall E, Alam A, Perrone RD. Autosomal dominant polycystic kidney disease. Lancet. 2019 Mar 2;393(10174):919-35. Resumo

5. Guay-Woodford LM, Bissler JJ, Braun MC, et al. Consensus expert recommendations for the diagnosis and management of autosomal recessive polycystic kidney disease: report of an international conference. J Pediatr. 2014 Sep;165(3):611-7.Texto completo  Resumo

6. AlNuaimi D, AlKetbi R, AlFalahi A, et al. Ruptured berry aneurysm as the initial presentation of polycystic kidney disease: a case report and review of literature. J Radiol Case Rep. 2018 Sep;12(9):1-8.Texto completo  Resumo

7. Gimpel C, Bergmann C, Bockenhauer D, et al. International consensus statement on the diagnosis and management of autosomal dominant polycystic kidney disease in children and young people. Nat Rev Nephrol. 2019 Nov;15(11):713-26.Texto completo  Resumo

8. Lanktree MB, Haghighi A, Guiard E, et al. Prevalence estimates of polycystic kidney and liver disease by population sequencing. J Am Soc Nephrol. 2018 Oct;29(10):2593-600.Texto completo  Resumo

9. Willey CJ, Blais JD, Hall AK, et al. Prevalence of autosomal dominant polycystic kidney disease in the European Union. Nephrol Dial Transplant. 2017 Aug 1;32(8):1356-63.Texto completo  Resumo

10. Willey C, Gauthier-Loiselle M, Cloutier M, et al. Regional variations in prevalence and severity of autosomal dominant polycystic kidney disease in the United States. Curr Med Res Opin. 2021 Jul;37(7):1155-62.Texto completo  Resumo

11. Suwabe T, Shukoor S, Chamberlain AM, et al. Epidemiology of autosomal dominant polycystic kidney disease in Olmsted County. Clin J Am Soc Nephrol. 2020 Jan 7;15(1):69-79.Texto completo  Resumo

12. Solazzo A, Testa F, Giovanella S, et al. The prevalence of autosomal dominant polycystic kidney disease (ADPKD): a meta-analysis of European literature and prevalence evaluation in the Italian province of Modena suggest that ADPKD is a rare and underdiagnosed condition. PLoS One. 2018;13(1):e0190430.Texto completo  Resumo

13. Neumann HP, Jilg C, Bacher J, et al. Epidemiology of autosomal-dominant polycystic kidney disease: an in-depth clinical study for south-western Germany. Nephrol Dial Transplant. 2013 Jun;28(6):1472-87.Texto completo  Resumo

14. Willey C, Kamat S, Stellhorn R, et al. Analysis of nationwide data to determine the incidence and diagnosed prevalence of autosomal dominant polycystic kidney disease in the USA: 2013-2015. Kidney Dis (Basel). 2019 Mar;5(2):107-17.Texto completo  Resumo

15. United States Renal Data System. 2020 annual data report: epidemiology of kidney disease in the United States. 2020 [internet publication].Texto completo

16. Harris PC, Torres VE. Polycystic kidney disease, autosomal dominant. GeneReviews. July 2018 [internet publication].Texto completo  Resumo

17. Porath B, Gainullin VG, Cornec-Le Gall E, et al. Mutations in GANAB, encoding the glucosidase IIα subunit, cause autosomal-dominant polycystic kidney and liver disease. Am J Hum Genet. 2016 Jun 2;98(6):1193-207.Texto completo  Resumo

18. Cornec-Le Gall E, Olson RJ, Besse W, et al. Monoallelic mutations to DNAJB11 cause atypical autosomal-dominant polycystic kidney disease. Am J Hum Genet. 2018 May 3;102(5):832-44.Texto completo  Resumo

19. Mallawaarachchi AC, Lundie B, Hort Y, et al. Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing. Eur J Hum Genet. 2021 May;29(5):760-70. Resumo

20. Iliuta IA, Kalatharan V, Wang K, et al. Polycystic kidney disease without an apparent family history. J Am Soc Nephrol. 2017 Sep;28(9):2768-76.Texto completo  Resumo

21. Lanktree MB, Haghighi A, di Bari I, et al. Insights into autosomal dominant polycystic kidney disease from genetic studies. Clin J Am Soc Nephrol. 2021 May 8;16(5):790-9.Texto completo  Resumo

22. Qian F, Watnick TJ, Onuchic LF, et al. The molecular basis of focal cyst formation in human autosomal dominant polycystic kidney disease type I. Cell. 1996 Dec 13;87(6):979-87.Texto completo  Resumo

23. Hanaoka K, Qian F, Boletta A, et al. Co-assembly of polycystin-1 and -2 produces unique cation-permeable currents. Nature. 2000 Dec 21-28;408(6815):990-4. Resumo

24. Nauli SM, Alenghat FJ, Luo Y, et al. Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells. Nat Genet. 2003 Feb;33(2):129-37. Resumo

25. Douguet D, Patel A, Honoré E. Structure and function of polycystins: insights into polycystic kidney disease. Nat Rev Nephrol. 2019 Jul;15(7):412-22. Resumo

26. Grantham JJ, Torres VE, Chapman AB, et al. Volume progression in polycystic kidney disease. N Engl J Med. 2006 May 18;354(20):2122-30.Texto completo  Resumo

27. Chebib FT, Torres VE. Autosomal dominant polycystic kidney disease: core curriculum 2016. Am J Kidney Dis. 2016 May;67(5):792-810.Texto completo  Resumo

28. Hunsicker LG, Adler S, Caggiula A, et al. Predictors of the progression of renal disease in the Modification of Diet in Renal Disease Study. Kidney Int. 1997 Jun;51(6):1908-19. Resumo

29. Harris PC, Bae KT, Rossetti S, et al. Cyst number but not the rate of cystic growth is associated with the mutated gene in autosomal dominant polycystic kidney disease. J Am Soc Nephrol. 2006 Nov;17(11):3013-9.Texto completo  Resumo

30. Cornec-Le Gall E, Audrézet MP, Renaudineau E, et al. PKD2-related autosomal dominant polycystic kidney disease: prevalence, clinical presentation, mutation spectrum, and prognosis. Am J Kidney Dis. 2017 Oct;70(4):476-85.Texto completo  Resumo

31. Chapman AB, Devuyst O, Eckardt KU, et al. Autosomal-dominant polycystic kidney disease (ADPKD): executive summary from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference. Kidney Int. 2015 Jul;88(1):17-27.Texto completo  Resumo

32. Rossetti S, Harris PC. The genetics of vascular complications in autosomal dominant polycystic kidney disease (ADPKD). Curr Hypertens Rev. 2013 Feb;9(1):37-43.Texto completo  Resumo

33. Gunay-Aygun M, Font-Montgomery E, Lukose L, et al. Characteristics of congenital hepatic fibrosis in a large cohort of patients with autosomal recessive polycystic kidney disease. Gastroenterology. 2013 Jan;144(1):112-21.e2. Resumo

34. Pirson Y, Chauveau D, Torres V. Management of cerebral aneurysms in autosomal dominant polycystic kidney disease. J Am Soc Nephrol. 2002 Jan;13(1):269-76.Texto completo  Resumo

35. Chebib FT, Torres VE. Recent advances in the management of autosomal dominant polycystic kidney disease. Clin J Am Soc Nephrol. 2018 Nov 7;13(11):1765-76.Texto completo  Resumo

36. Grantham JJ. Clinical practice. Autosomal dominant polycystic kidney disease. N Engl J Med. 2008 Oct 2;359(14):1477-85. Resumo

37. Zhang ZY, Wang ZM, Huang Y. Polycystic liver disease: classification, diagnosis, treatment process, and clinical management. World J Hepatol. 2020 Mar 27;12(3):72-83.Texto completo  Resumo

38. Mikolajczyk AE, Te HS, Chapman AB. Gastrointestinal manifestations of autosomal-dominant polycystic kidney disease. Clin Gastroenterol Hepatol. 2017 Jan;15(1):17-24.Texto completo  Resumo

39. Grantham JJ, Chapman AB, Torres VE. Volume progression in autosomal dominant polycystic kidney disease: the major factor determining clinical outcomes. Clin J Am Soc Nephrol. 2006 Jan;1(1):148-57.Texto completo  Resumo

40. Torres VE, Grantham JJ, Chapman AB, et al. Potentially modifiable factors affecting the progression of autosomal dominant polycystic kidney disease. Clin J Am Soc Nephrol. 2011 Mar;6(3):640-7.Texto completo  Resumo

41. Torres VE, Erickson SB, Smith LH, et al. The association of nephrolithiasis and autosomal dominant polycystic kidney disease. Am J Kidney Dis. 1988 Apr;11(4):318-25. Resumo

42. Pei Y, Obaji J, Dupuis A, et al. Unified criteria for ultrasonographic diagnosis of ADPKD. J Am Soc Nephrol. 2009 Jan;20(1):205-12.Texto completo  Resumo

43. Pei Y, Hwang YH, Conklin J, et al. Imaging-based diagnosis of autosomal dominant polycystic kidney disease. J Am Soc Nephrol. 2015 Mar;26(3):746-53.Texto completo  Resumo

44. Irazabal MV, Rangel LJ, Bergstralh EJ, et al. Imaging classification of autosomal dominant polycystic kidney disease: a simple model for selecting patients for clinical trials. J Am Soc Nephrol. 2015 Jan;26(1):160-72.Texto completo  Resumo

45. Kuo IY, Chapman AB. Polycystins, ADPKD, and cardiovascular disease. Kidney Int Rep. 2020 Apr;5(4):396-406.Texto completo  Resumo

46. Grampsas SA, Chandhoke PS, Fan J, et al. Anatomic and metabolic risk factors for nephrolithiasis in patients with autosomal dominant polycystic kidney disease. Am J Kidney Dis. 2000 Jul;36(1):53-7. Resumo

47. Hoh BL, Ko NU, Amin-Hanjani S, et al. 2023 Guideline for the management of patients with aneurysmal subarachnoid hemorrhage: a guideline from the American Heart Association/American Stroke Association. Stroke. 2023 Jul;54(7):e314-70.Texto completo  Resumo

48. Chung DY, Abdalkader M, Nguyen TN. Aneurysmal subarachnoid hemorrhage. Neurol Clin. 2021 May;39(2):419-42. Resumo

49. Lavi R, Yarnitsky D, Rowe JM, et al. Standard vs atraumatic Whitacre needle for diagnostic lumbar puncture: a randomized trial. Neurology. 2006 Oct 24;67(8):1492-4. Resumo

50. Arendt K, Demaerschalk BM, Wingerchuk DM, Camann W. Atraumatic lumbar puncture needles: after all these years, are we still missing the point? Neurologist. 2009 Jan;15(1):17-20. Resumo

51. Nath S, Koziarz A, Badhiwala JH, et al. Atraumatic versus conventional lumbar puncture needles: a systematic review and meta-analysis. Lancet. 2018 Mar 24;391(10126):1197-204. Resumo

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55. Dad T, Abebe KZ, Bae KT, et al. Longitudinal assessment of left ventricular mass in autosomal dominant polycystic kidney disease. Kidney Int Rep. 2018 May;3(3):619-24.Texto completo  Resumo

56. Cornec-Le Gall E, Audrézet MP, Rousseau A, et al. The PROPKD score: a new algorithm to predict renal survival in autosomal dominant polycystic kidney disease. J Am Soc Nephrol. 2016 Mar;27(3):942-51.Texto completo  Resumo

57. Jouret F, Lhommel R, Beguin C, et al. Positron-emission computed tomography in cyst infection diagnosis in patients with autosomal dominant polycystic kidney disease. Clin J Am Soc Nephrol. 2011 Jul;6(7):1644-50. Resumo

58. Ravine D, Gibson RN, Walker RG, et al. Evaluation of ultrasonographic diagnostic criteria for autosomal dominant polycystic kidney disease 1. Lancet. 1994 Apr 2;343(8901):824-7. Resumo

59. Israel GM, Bosniak MA. An update of the Bosniak renal cyst classification system. Urology. 2005 Sep;66(3):484-8. Resumo

60. Graumann O, Osther SS, Osther PJ. Characterization of complex renal cysts: a critical evaluation of the Bosniak classification. Scand J Urol Nephrol. 2011 Mar;45(2):84-90. Resumo

61. Chen YZ, Gao Q, Zhao XZ, et al. Systematic review of TCF2 anomalies in renal cysts and diabetes syndrome/maturity onset diabetes of the young type 5. Chin Med J (Engl). 2010 Nov;123(22):3326-33. Resumo

62. Kelleher CL, McFann KK, Johnson AM, et al. Characteristics of hypertension in young adults with autosomal dominant polycystic kidney disease compared with the general U.S. population. Am J Hypertens. 2004 Nov;17(11 Pt 1):1029-34. Resumo

63. Sanchis IM, Shukoor S, Irazabal MV, et al. Presymptomatic screening for intracranial aneurysms in patients with autosomal dominant polycystic kidney disease. Clin J Am Soc Nephrol. 2019 Aug 7;14(8):1151-60.Texto completo  Resumo

64. Cagnazzo F, Gambacciani C, Morganti R, et al. Intracranial aneurysms in patients with autosomal dominant polycystic kidney disease: prevalence, risk of rupture, and management - a systematic review. Acta Neurochir (Wien). 2017 May;159(5):811-21. Resumo

65. Thompson BG, Brown RD Jr, Amin-Hanjani S, et al. Guidelines for the management of patients with unruptured intracranial aneurysms: a guideline for healthcare professionals from the American Heart Association/American Stroke Association. Stroke. 2015 Aug;46(8):2368-400.Texto completo  Resumo

66. Belz MM, Fick-Brosnahan GM, Hughes RL, et al. Recurrence of intracranial aneurysms in autosomal-dominant polycystic kidney disease. Kidney Int. 2003 May;63(5):1824-30.Texto completo  Resumo

67. Gibbs GF, Huston J 3rd, Qian Q, et al. Follow-up of intracranial aneurysms in autosomal-dominant polycystic kidney disease. Kidney Int. 2004 May;65(5):1621-7. Resumo

68. Schrier RW, Belz MM, Johnson AM, et al. Repeat imaging for intracranial aneurysms in patients with autosomal dominant polycystic kidney disease with initially negative studies: a prospective ten-year follow-up. J Am Soc Nephrol. 2004 Apr;15(4):1023-8.Texto completo  Resumo

69. Chebib FT, Torres VE. Assessing risk of rapid progression in autosomal dominant polycystic kidney disease and special considerations for disease-modifying therapy. Am J Kidney Dis. 2021 Aug;78(2):282-92. Resumo

70. Gansevoort RT, Arici M, Benzing T, et al. Recommendations for the use of tolvaptan in autosomal dominant polycystic kidney disease: a position statement on behalf of the ERA-EDTA Working Groups on Inherited Kidney Disorders and European Renal Best Practice. Nephrol Dial Transplant. 2016 Mar;31(3):337-48.Texto completo  Resumo

71. Lanktree MB, Guiard E, Li W, et al. Intrafamilial variability of ADPKD. Kidney Int Rep. 2019 Jul;4(7):995-1003.Texto completo  Resumo

72. Torres VE, Meijer E, Bae KT, et al. Rationale and design of the TEMPO (tolvaptan efficacy and safety in management of autosomal dominant polycystic kidney disease and its outcomes) 3-4 study. Am J Kidney Dis. 2011 May;57(5):692-9. Resumo

73. Torres VE, Chapman AB, Devuyst O, et al; TEMPO 3:4 Trial Investigators. Tolvaptan in patients with autosomal dominant polycystic kidney disease. N Engl J Med. 2012 Dec 20;367(25):2407-18.Texto completo  Resumo

74. Torres VE, Chapman AB, Devuyst O, et al; REPRISE Trial Investigators. Tolvaptan in later-stage autosomal dominant polycystic kidney disease. N Engl J Med. 2017 Nov 16;377(20):1930-42. Resumo

75. Schrier RW, Abebe KZ, Perrone RD, et al; HALT-PKD Trial Investigators. Blood pressure in early autosomal dominant polycystic kidney disease. N Engl J Med. 2014 Dec 11;371(24):2255-66. Resumo

76. Torres VE, Abebe KZ, Chapman AB, et al; HALT-PKD Trial Investigators. Angiotensin blockade in late autosomal dominant polycystic kidney disease. N Engl J Med. 2014 Dec 11;371(24):2267-76. Resumo

77. Torres VE, Wilson DM, Burnett JC Jr, et al. Effect of inhibition of converting enzyme on renal hemodynamics and sodium management in polycystic kidney disease. Mayo Clin Proc. 1991 Oct;66(10):1010-7. Resumo

78. Watson ML, Macnicol AM, Allan PL, et al. Effects of angiotensin converting enzyme inhibition in adult polycystic kidney disease. Kidney Int. 1992 Jan;41(1):206-10. Resumo

79. Lantinga MA, Casteleijn NF, Geudens A, et al. Management of renal cyst infection in patients with autosomal dominant polycystic kidney disease: a systematic review. Nephrol Dial Transplant. 2017 Jan 1;32(1):144-50.Texto completo  Resumo

80. European Medicines Agency. Quinolone- and fluoroquinolone-containing medicinal products. March 2019 [internet publication].Texto completo

81. US Food and Drug Administration. FDA reinforces safety information about serious low blood sugar levels and mental health side effects with fluoroquinolone antibiotics; requires label changes. July 2018 [internet publication].Texto completo

82. US Food and Drug Administration. FDA warns about increased risk of ruptures or tears in the aorta blood vessel with fluoroquinolone antibiotics in certain patients. December 2018 [internet publication].Texto completo

83. Sallée M, Rafat C, Zahar JR, et al. Cyst infections in patients with autosomal dominant polycystic kidney disease. Clin J Am Soc Nephrol. 2009 Jul;4(7):1183-9.Texto completo  Resumo

84. Millar M, Tanagho YS, Haseebuddin M, et al. Surgical cyst decortication in autosomal dominant polycystic kidney disease. J Endourol. 2013 May;27(5):528-34.Texto completo  Resumo

85. Lifson BJ, Teichman JM, Hulbert JC. Role and long-term results of laparoscopic decortication in solitary cystic and autosomal dominant polycystic kidney disease. J Urol. 1998 Mar;159(3):702-5. Resumo

86. Tellman MW, Bahler CD, Shumate AM, et al. Management of pain in autosomal dominant polycystic kidney disease and anatomy of renal innervation. J Urol. 2015 May;193(5):1470-8. Resumo

87. Mufti UB, Nalagatla SK. Nephrolithiasis in autosomal dominant polycystic kidney disease. J Endourol. 2010 Oct;24(10):1557-61. Resumo

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89. Xu Y, Bai Z, Ma D, et al. Laparoscopic ureterolithotomy, flexible ureteroscopic lithotripsy and percutaneous nephrolithotomy for treatment of upper urinary calculi in patients with autosomal dominant polycystic kidney disease. Clin Exp Nephrol. 2020 Sep;24(9):842-8. Resumo

90. Kalatharan V, Jandoc R, Grewal G, et al. Efficacy and safety of surgical kidney stone interventions in autosomal dominant polycystic kidney disease: a systematic review. Can J Kidney Health Dis. 2020;7:2054358120940433.Texto completo  Resumo

91. Wiebers DO, Whisnant JP, Huston J 3rd, et al; International Study of Unruptured Intracranial Aneurysms Investigators. Unruptured intracranial aneurysms: natural history, clinical outcome, and risks of surgical and endovascular treatment. Lancet. 2003 Jul 12;362(9378):103-10. Resumo

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93. Salehipour M, Jalaeian H, Salahi H, et al. Are large nonfunctional kidneys risk factors for posttransplantation urinary tract infection in patients with end-stage renal disease due to autosomal dominant polycystic kidney disease? Transplant Proc. 2007 May;39(4):887-8. Resumo

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98. ClinicalTrials.gov. The ELiSA study: evaluation of lixivaptan in subjects with autosomal dominant polycystic kidney disease. November 2020 [internet publication].Texto completo

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100. Hogan MC, Masyuk TV, Page LJ, et al. Randomized clinical trial of long-acting somatostatin for autosomal dominant polycystic kidney and liver disease. J Am Soc Nephrol. 2010 Jun;21(6):1052-61. Resumo

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104. Yheskel M, Patel V. Therapeutic microRNAs in polycystic kidney disease. Curr Opin Nephrol Hypertens. 2017 Jul;26(4):282-9.Texto completo  Resumo

105. Lee EC, Valencia T, Allerson C, et al. Discovery and preclinical evaluation of anti-miR-17 oligonucleotide RGLS4326 for the treatment of polycystic kidney disease. Nat Commun. 2019 Sep 12;10(1):4148.Texto completo  Resumo

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107. Serra AL, Poster D, Kistler AD, et al. Sirolimus and kidney growth in autosomal dominant polycystic kidney disease. N Engl J Med. 2010 Aug 26;363(9):820-9. Resumo

108. Walz G, Budde K, Mannaa M, et al. Everolimus in patients with autosomal dominant polycystic kidney disease. N Engl J Med. 2010 Aug 26;363(9):830-40.Texto completo  Resumo

109. Perico N, Antiga L, Caroli A, et al. Sirolimus therapy to halt the progression of ADPKD. J Am Soc Nephrol. 2010 Jun;21(6):1031-40. Resumo

110. Liu YM, Shao YQ, He Q. Sirolimus for treatment of autosomal-dominant polycystic kidney disease: a meta-analysis of randomized controlled trials. Transplant Proc. 2014 Jan-Feb;46(1):66-74.Texto completo  Resumo

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114. Xue C, Dai B, Mei C. Long-term treatment with mammalian target of rapamycin inhibitor does not benefit patients with autosomal dominant polycystic kidney disease: a meta-analysis. Nephron Clin Pract. 2013;124(1-2):10-6. Resumo

115. Herrera GA. C-erb B-2 amplification in cystic renal disease. Kidney Int. 1991 Sep;40(3):509-13. Resumo

116. Wilson SJ, Amsler K, Hyink DP, et al. Inhibition of HER-2(neu/ErbB2) restores normal function and structure to polycystic kidney disease (PKD) epithelia. Biochim Biophys Acta. 2006 Jul;1762(7):647-55. Resumo

117. Chapman AB, Johnson AM, Gabow PA. Pregnancy outcome and its relationship to progression of renal failure in autosomal dominant polycystic kidney disease. J Am Soc Nephrol. 1994 Nov;5(5):1178-85.Texto completo  Resumo

118. Taskapan H, Tam P, Au V, et al. Improvement in eGFR in patients with chronic kidney disease attending a nephrology clinic. Int Urol Nephrol. 2008;40(3):841-8. Resumo

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