Síndrome de Alport

Kashtan CE, Ding J, Garosi G, et al. Alport syndrome: a unified classification of genetic disorders of collagen IV α345: a position paper of the Alport Syndrome Classification Working Group. Kidney Int. 2018 May;93(5):1045-51.Texto completo  Resumo

Savige J, Lipska-Zietkiewicz BS, Watson E, et al. Guidelines for genetic testing and management of Alport syndrome. Clin J Am Soc Nephrol. 2022 Jan;17(1):143-54.Texto completo  Resumo

Flinter FA, Cameron JS, Chantler C, et al. Genetics of classic Alport's syndrome. Lancet. 1988 Oct 29;2(8618):1005-7. Resumo

Kashtan CE, Gross O. Clinical practice recommendations for the diagnosis and management of Alport syndrome in children, adolescents, and young adults - an update for 2020. Pediatr Nephrol. 2021 Mar;36(3):711-9. Resumo

Gross O, Tönshoff B, Weber LT, et al. A multicenter, randomized, placebo-controlled, double-blind phase 3 trial with open-arm comparison indicates safety and efficacy of nephroprotective therapy with ramipril in children with Alport's syndrome. Kidney Int. 2020 Jun;97(6):1275-86.Texto completo  Resumo

1. Gubler MC. Inherited diseases of the glomerular basement membrane. Nat Clin Pract Nephrol. 2008 Jan;4(1):24-37. Resumo

2. Jacobs K, Meire FM. Lenticonus. Bull Soc Belge Ophtalmol. 2000;(277):65-70. Resumo

3. Kashtan C. Multidisciplinary management of Alport syndrome: current perspectives. J Multidiscip Healthc. 2021 May 21:14:1169-80.Texto completo  Resumo

4. Jais JP, Knebelmann B, Giatras I, et al. X-linked Alport syndrome: natural history in 195 families and genotype-phenotype correlations in males. J Am Soc Nephrol. 2000 Apr;11(4):649-57.Texto completo  Resumo

5. Kashtan CE, Ding J, Garosi G, et al. Alport syndrome: a unified classification of genetic disorders of collagen IV α345: a position paper of the Alport Syndrome Classification Working Group. Kidney Int. 2018 May;93(5):1045-51.Texto completo  Resumo

6. Gross O, Netzer KO, Lambrecht R, et al. Meta-analysis of genotype-phenotype correlation in X-linked Alport syndrome: impact on clinical counselling. Nephrol Dial Transplant. 2002 Jul;17(7):1218-27.Texto completo  Resumo

7. Jais JP, Knebelmann B, Giatras I, et al. X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a "European Community Alport syndrome Concerted Action" study. J Am Soc Nephrol. 2003 Oct;14(10):2603-10.Texto completo  Resumo

8. Tazon Vega B, Badenas C, Ars E, et al. Autosomal recessive Alport's syndrome and benign familial hematuria are collagen type IV diseases. Am J Kidney Dis. 2003 Nov;42(5):952-59. Resumo

9. Longo I, Porcedda P, Mari F, et al. COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome. Kidney Int. 2002 Jun;61(6):1947-56.Texto completo  Resumo

10. Imafuku A, Nozu K, Sawa N, et al. How to resolve confusion in the clinical setting for the diagnosis of heterozygous COL4A3 or COL4A4 gene variants? Discussion and suggestions from nephrologists. Clin Exp Nephrol. 2020 Aug;24(8):651-6.Texto completo  Resumo

11. Mencarelli MA, Heidet L, Storey H, et al. Evidence of digenic inheritance in Alport syndrome. J Med Genet. 2015 Mar;52(3):163-74.Texto completo  Resumo

12. Meloni I, Vitelli F, Pucci L, et al. Alport syndrome and mental retardation: clinical and genetic dissection of the contiguous gene deletion syndrome in Xq22.3 (ATS-MR). J Med Genet. 2002 May;39(5):359-65.Texto completo  Resumo

13. Zhou J, Mochizuki T, Smeets H, et al. Deletion of the paired alpha 5(IV) and alpha 6(IV) collagen genes in inherited smooth muscle tumors. Science. 1993 Aug 27;261(5125):1167-1169. Resumo

14. Guillem P, Delcambre F, Cohen-Solal L, et al. Diffuse esophageal leiomyomatosis with perirectal involvement mimicking Hirschsprung disease. Gastroenterology. 2001 Jan;120(1):216-20.Texto completo  Resumo

15. Van Loo A, Vanholder R, Buytaert I, et al. Alport syndrome and diffuse leiomyomatosis with major morbid events presenting at adult age. Nephrol Dial Transplant. 1997 Apr;12(4):776-80.Texto completo  Resumo

16. Savige J, Lipska-Zietkiewicz BS, Watson E, et al. Guidelines for genetic testing and management of Alport syndrome. Clin J Am Soc Nephrol. 2022 Jan;17(1):143-54.Texto completo  Resumo

17. Levy M, Feingold J. Estimating prevalence in single-gene kidney diseases progressing to renal failure. Kidney Int. 2000 Sep;58(3):925-43.Texto completo  Resumo

18. Gross O, Kashtan CE, Rheault MN, et al. Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome. Nephrol Dial Transplant. 2017 Jun 1;32(6):916-24.Texto completo  Resumo

19. Online Mendelian Inheritance in Man (OMIM). Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps; HANAC​. Sep 2023 [internet publication].Texto completo

20. Thorner PS. Alport syndrome and thin basement membrane nephropathy. Nephron Clin Pract. 2007;106(2):82-88. Resumo

21. Savige J, Ariani F, Mari F, et al. Expert consensus guidelines for the genetic diagnosis of Alport syndrome. Pediatr Nephrol. 2019 Jul;34(7):1175-89.Texto completo  Resumo

22. Savige J, Gregory M, Gross O, et al. Expert guidelines for the management of Alport syndrome and thin basement membrane nephropathy. J Am Soc Nephrol. 2013 Feb;24(3):364-75. Resumo

23. Hanson H, Storey H, Pagan J, et al. The value of clinical criteria in identifying patients with X-linked Alport syndrome. Clin J Am Soc Nephrol. 2011 Jan;6(1):198-203.Texto completo  Resumo

24. Flinter FA, Cameron JS, Chantler C, et al. Genetics of classic Alport's syndrome. Lancet. 1988 Oct 29;2(8618):1005-7. Resumo

25. Perrin D, Jungers P, Grunfeld JP, et al. Perimacular changes in Alport's syndrome. Clin Nephrol. 1980 Apr;13(4):163-7. Resumo

26. Savige J, Storey H, Watson E, et al. Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria. Eur J Hum Genet. 2021 Aug;29(8):1186-97.Texto completo  Resumo

27. Kashtan CE, Segal Y, Flinter F, et al. Aortic abnormalities in males with Alport syndrome. Nephrol Dial Transplant. 2010 Nov;25(11):3554-60. Resumo

28. Savige J, Colville D, Rheault M, et al. Alport syndrome in women and girls. Clin J Am Soc Nephrol. 2016 Sep 7;11(9):1713-20.Texto completo  Resumo

29. Kashtan CE, Gross O. Clinical practice recommendations for the diagnosis and management of Alport syndrome in children, adolescents, and young adults - an update for 2020. Pediatr Nephrol. 2021 Mar;36(3):711-9. Resumo

30. Martin P, Heiskari N, Zhou J, et al. High mutation detection rate in the COL4A5 collagen gene in suspected Alport syndrome using PCR and direct DNA sequencing. J Am Soc Nephrol. 1998 Dec;9(12):2291-301.Texto completo  Resumo

31. Hertz JM, Thomassen M, Storey H, et al. Clinical utility gene card for: Alport syndrome. Eur J Hum Genet. 2012 Jun;20(6):ejhg.2011.237. Resumo

32. Savige J, Ars E, Cotton RG, et al; The International Alport Mutation Consortium. DNA variant databases improve test accuracy and phenotype prediction in Alport syndrome. Pediatr Nephrol. 2014 Jun;29(6):971-77. Resumo

33. Tazon-Vega B, Ars E, Burset M, et al. Genetic testing for X-linked Alport syndrome by direct sequencing of COL4A5 cDNA from hair root RNA samples. Am J Kidney Dis. 2007 Aug;50(2):257.e1-e14. Resumo

34. Gubler MC. Diagnosis of Alport syndrome without biopsy? Pediatr Nephrol. 2007 May;22(5):621-5. Resumo

35. Dagher H, Buzza M, Colville D, et al. A comparison of the clinical, histopathologic, and ultrastructural phenotypes in carriers of X-linked and autosomal recessive Alport's syndrome. Am J Kidney Dis. 2001 Des;38(6):1217-28. Resumo

36. Longo I, Scala E, Mari F, et al. Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families. Nephrol Dial Transplant. 2006 Mar;21(3):665-71.Texto completo  Resumo

37. Online Mendelian Inheritance in Man (OMIM). Leiomyomatosis, diffuse, with Alport syndrome; DL-ATS​. May 2010 [internet publication].Texto completo

38. Kashtan C, Fish AJ, Kleppel M, et al. Nephritogenic antigen determinants in epidermal and renal basement membranes of kindreds with Alport-type familial nephritis. J Clin Invest. 1986 Oct;78(4):1035-44.Texto completo  Resumo

39. Heath KE, Campos-Barros A, Toren A, et al. Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes. Am J Hum Genet. 2001 Nov;69(5):1033-45.Texto completo  Resumo

40. Pecci A, Panza E, Pujol-Moix N, et al. Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease. Hum Mutat. 2008 Mar;29(3):409-17. Resumo

41. Krug P, Morinière V, Marlin S, et al. Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations. Hum Mutat. 2011 Feb;32(2):183-90. Resumo

42. Kashtan CE. Diagnosis of Alport syndrome. Kidney Int. 2004 Sep;66(3):1290-1Texto completo  Resumo

43. Daga S, Ding J, Deltas C, et al. The 2019 and 2021 international workshops on Alport syndrome. Eur J Hum Genet. 2022 May;30(5):507-16.Texto completo  Resumo

44. Kashtan CE. Renal transplantation in patients with Alport syndrome: patient selection, outcomes, and donor evaluation. Int J Nephrol Renovasc Dis. 2018 Oct 16:11:267-70.Texto completo  Resumo

45. Gross O, Tönshoff B, Weber LT, et al. A multicenter, randomized, placebo-controlled, double-blind phase 3 trial with open-arm comparison indicates safety and efficacy of nephroprotective therapy with ramipril in children with Alport's syndrome. Kidney Int. 2020 Jun;97(6):1275-86.Texto completo  Resumo

46. Kidney Disease: Improving Global Outcomes (KDIGO). KDIGO 2012 clinical practice guideline for the evaluation and management of chronic kidney disease. Jan 2013 [internet publication].Texto completo

47. National Heart, Lung, and Blood Institute. The seventh report of the Joint National Committee on Prevention, Detection, Evaluation, and Treatment of High Blood Pressure (JNC 7). Washington, DC: US Department of Health and Human Services; 2004.Texto completo

48. Gross O, Licht C, Anders HJ, et al. Early angiotensin-converting enzyme inhibition in Alport syndrome delays renal failure and improves life expectancy. Kidney Int. 2012 Mar;81(5):494-501.Texto completo  Resumo

49. Torra R, Furlano M. New therapeutic options for Alport syndrome. Nephrol Dial Transplant. 2019 Aug 1;34(8):1272-9.Texto completo  Resumo

50. Webb NJ, Lam C, Shahinfar S, et al. Efficacy and safety of losartan in children with Alport syndrome - results from a subgroup analysis of a prospective, randomized, placebo- or amlodipine-controlled trial. Nephrol Dial Transplant. 2011 Aug;26(8):2521-6. Resumo

51. Webb NJ, Shahinfar S, Wells TG, et al. Losartan and enalapril are comparable in reducing proteinuria in children with Alport syndrome. Pediatr Nephrol. 2013 May;28(5):737-43. Resumo

52. Kashtan CE. Renal transplantation in patients with Alport syndrome. Pediatr Transplant. 2006 Sep;10(6):651-7. Resumo

53. Gillion V, Dahan K, Cosyns JP, et al. Genotype and outcome after kidney transplantation in Alport syndrome. Kidney Int Rep. 2018 May;3(3):652-60.Texto completo  Resumo

54. Gross O, Weber M, Fries JW, et al. Living donor kidney transplantation from relatives with mild urinary abnormalities in Alport syndrome: long-term risk, benefit and outcome. Nephrol Dial Transplant. 2009 May;24(5):1626-30.Texto completo  Resumo

55. Kashtan CE. Women with Alport syndrome: risks and rewards of kidney donation. Nephrol Dial Transplant. 2009 May;24(5):1369-70.Texto completo  Resumo

56. Shukla AM, Hinkamp C, Segal E, et al. What do the US advanced kidney disease patients want? Comprehensive pre-ESRD patient education (CPE) and choice of dialysis modality. PLoS One. 2019 Apr 9;14(4):e0215091.Texto completo  Resumo

57. Mastrangelo A, Brambilla M, Romano G, et al. Single, double and triple blockade of RAAS in Alport syndrome: different tools to freeze the evolution of the disease. J Clin Med. 2021 Oct 26;10(21):4946.Texto completo  Resumo

58. Kaito H, Nozu K, Iijima K, et al. The effect of aldosterone blockade in patients with Alport syndrome. Pediatr Nephrol. 2006 Dec;21(12):1824-9. Resumo

59. Charbit M, Gubler MC, Dechaux M, et al. Cyclosporin therapy in patients with Alport syndrome. Pediatr Nephrol. 2007 May;22(5):57-63. Resumo

60. Chertow GM, Appel GB, Andreoli S, et al. Study design and baseline characteristics of the CARDINAL trial: a phase 3 study of bardoxolone methyl in patients with Alport syndrome. Am J Nephrol. 2021;52(3):180-9.Texto completo  Resumo

61. Storey H, Savige J, Sivakumar V, et al. COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome. J Am Soc Nephrol. 2013 Dec;24(12):1945-54. Resumo