Alport 综合征

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):1045-1051.全文  摘要

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. 摘要

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.全文  摘要

Savige J, Ariani F, Mari F, et al. Expert consensus guidelines for the genetic diagnosis of Alport syndrome. Pediatr Nephrol. 2019 Jul;34(7):1175-1189.全文  摘要

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. 摘要

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

Kashtan CE. Renal transplantation in patients with Alport syndrome: patient selection, outcomes, and donor evaluation. Int J Nephrol Renovasc Dis. 2018;11:267-270.全文  摘要

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

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.全文  摘要

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

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

3. 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.全文  摘要

4. 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):1045-1051.全文  摘要

5. 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.全文  摘要

6. 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.全文  摘要

7. 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. 摘要

8. 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.全文  摘要

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

10. 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.全文  摘要

11. 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.全文  摘要

12. 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. 摘要

13. 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.全文  摘要

14. 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.全文  摘要

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

16. 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.全文  摘要

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

18. Savige J, Ariani F, Mari F, et al. Expert consensus guidelines for the genetic diagnosis of Alport syndrome. Pediatr Nephrol. 2019 Jul;34(7):1175-1189.全文  摘要

19. 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. 摘要

20. 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. 摘要

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

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

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

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

25. 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.全文  摘要

26. 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. 摘要

27. 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. 摘要

28. 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. 摘要

29. 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. 摘要

30. 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.全文  摘要

31. 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.全文  摘要

32. 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.全文  摘要

33. 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. 摘要

34. 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. 摘要

35. Kashtan CE. Diagnosis of Alport syndrome. Kidney Int. 2004 Sep;66(3):1290-1全文  摘要

36. Kidney Disease: Improving Global Outcomes (KDIGO). KDIGO 2012 Clinical practice guideline for the evaluation and management of chronic kidney disease. 2012 [internet publication].全文

37. Kashtan CE. Renal transplantation in patients with Alport syndrome: patient selection, outcomes, and donor evaluation. Int J Nephrol Renovasc Dis. 2018;11:267-270.全文  摘要

38. 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.全文

39. 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. 摘要

40. Kashtan CE, Ding J, Gregory M, et al. Clinical practice recommendations for the treatment of Alport syndrome: a statement of the Alport Syndrome Research Collaborative. Pediatr Nephrol. 2013 Jan;28(1):5-11.全文  摘要

41. 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. 摘要

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

43. Gillion V, Dahan K, Cosyns JP, et al. Genotype and Outcome After Kidney Transplantation in Alport Syndrome. Kidney Int Rep. 2018 May;3(3):652-660.全文  摘要

44. 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.全文  摘要

45. Kashtan CE. Women with Alport syndrome: risks and rewards of kidney donation. Nephrol Dial Transplant. 2009 May;24(5):1369-70.全文  摘要

46. Torra R, Furlano M. New therapeutic options for Alport syndrome. Nephrol Dial Transplant. 2019 Aug 1;34(8):1272-1279.全文  摘要

47. Gross O, Schulze-Lohoff E, Koepke ML, et al. Antifibrotic, nephroprotective potential of ACE inhibitor vs AT1 antagonist in a murine model of renal fibrosis. Nephrol Dial Transplant. 2004 Jul;19(7):1716-23.全文  摘要

48. Grodecki KM, Gains MJ, Baumal R, et al. Treatment of X-linked hereditary nephritis in Samoyed dogs with angiotensin converting enzyme (ACE) inhibitor. J Comp Pathol. 1997 Oct;117(3):209-25. 摘要

49. 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. 摘要

50. Gillion V, Dahan K, Cosyns JP, et al. Genotype and Outcome After Kidney Transplantation in Alport Syndrome. Kidney Int Rep. 2018 May;3(3):652-660.全文  摘要

51. 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. 摘要

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

53. Clinicaltrials.gov. A phase 2/3 trial of the efficacy and safety of bardoxolone methyl in patients with Alport syndrome. NCT03019185. September 2017 [internet publication].全文

54. 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. 摘要