References
Key articles
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.Full text Abstract
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. Abstract
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.Full text Abstract
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.Full text Abstract
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. Abstract
Flinter FA, Cameron JS, Chantler C, et al. Genetics of classic Alport's syndrome. Lancet. 1988 Oct 29;2(8618):1005-7. Abstract
Kashtan CE. Renal transplantation in patients with Alport syndrome: patient selection, outcomes, and donor evaluation. Int J Nephrol Renovasc Dis. 2018;11:267-270.Full text Abstract
Kashtan CE. Renal transplantation in patients with Alport syndrome. Pediatr Transplant. 2006 Sep;10(6):651-7. Abstract
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.Full text Abstract
Reference articles
1. Gubler MC. Inherited diseases of the glomerular basement membrane. Nat Clin Pract Nephrol. 2008 Jan;4(1):24-37. Abstract
2. Jacobs K, Meire FM. Lenticonus. Bull Soc Belge Ophtalmol. 2000;(277):65-70. Abstract
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.Full text Abstract
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.Full text Abstract
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.Full text Abstract
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.Full text Abstract
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. Abstract
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.Full text Abstract
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.Full text Abstract
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.Full text Abstract
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.Full text Abstract
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. Abstract
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.Full text Abstract
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.Full text Abstract
15. Levy M, Feingold J. Estimating prevalence in single-gene kidney diseases progressing to renal failure. Kidney Int. 2000 Sep;58(3):925-43.Full text Abstract
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.Full text Abstract
17. Thorner PS. Alport syndrome and thin basement membrane nephropathy. Nephron Clin Pract. 2007;106(2):82-88. Abstract
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.Full text Abstract
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. Abstract
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. Abstract
21. Flinter FA, Cameron JS, Chantler C, et al. Genetics of classic Alport's syndrome. Lancet. 1988 Oct 29;2(8618):1005-7. Abstract
22. Perrin D, Jungers P, Grunfeld JP, et al. Perimacular changes in Alport's syndrome. Clin Nephrol. 1980 Apr;13(4):163-7. Abstract
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. Abstract
24. Gubler MC. Diagnosis of Alport syndrome without biopsy? Pediatr Nephrol. 2007 May;22(5):621-5. Abstract
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.Full text Abstract
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. Abstract
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. Abstract
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. Abstract
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. Abstract
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.Full text Abstract
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.Full text Abstract
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.Full text Abstract
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. Abstract
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. Abstract
36. Kidney Disease: Improving Global Outcomes (KDIGO). KDIGO 2012 Clinical practice guideline for the evaluation and management of chronic kidney disease. 2012 [internet publication].Full text
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.Full text Abstract
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.Full text
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. Abstract
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.Full text Abstract
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. Abstract
42. Kashtan CE. Renal transplantation in patients with Alport syndrome. Pediatr Transplant. 2006 Sep;10(6):651-7. Abstract
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.Full text Abstract
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.Full text Abstract
45. Kashtan CE. Women with Alport syndrome: risks and rewards of kidney donation. Nephrol Dial Transplant. 2009 May;24(5):1369-70.Full text Abstract
46. Torra R, Furlano M. New therapeutic options for Alport syndrome. Nephrol Dial Transplant. 2019 Aug 1;34(8):1272-1279.Full text Abstract
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.Full text Abstract
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. Abstract
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. Abstract
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.Full text Abstract
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. Abstract
52. Charbit M, Gubler MC, Dechaux M, et al. Cyclosporin therapy in patients with Alport syndrome. Pediatr Nephrol. 2007 May;22(5):57-63. Abstract
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].Full text
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. Abstract
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