Suh JH, Miner JH (2013) The glomerular basement membrane as a barrier to albumin. Nat Rev Nephrol 9(8):470–477
Article CAS PubMed Google Scholar
Kashtan CE, Michael AF (1996) Alport syndrome. Kidney Int 50(5):1445–1463
Article CAS PubMed Google Scholar
Savige J, Harraka P (2021) Pathogenic variants in the genes affected in alport syndrome (COL4A3-COL4A5) and their association with other kidney conditions: a review. Am J Kidney Dis 78(6):857–864
Article CAS PubMed Google Scholar
Jais JP, Knebelmann B, Giatras I, De Marchi M, Rizzoni G, Renieri A, Weber M, Gross O, Netzer KO, Flinter F et al (2003) 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 14(10):2603–2610
Storey H, Savige J, Sivakumar V, Abbs S, Flinter FA (2013) COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome. J Am Soc Nephrol 24(12):1945–1954
Article CAS PubMed PubMed Central Google Scholar
Furlano M, Martinez V, Pybus M, Arce Y, Crespi J, Venegas MDP, Bullich G, Domingo A, Ayasreh N, Benito S et al (2021) Clinical and genetic features of autosomal dominant Alport syndrome: a cohort study. Am J Kidney Dis 78(4):560-570.e561
Article CAS PubMed Google Scholar
Levin A, Stevens PE (2014) Summary of KDIGO 2012 CKD Guideline: behind the scenes, need for guidance, and a framework for moving forward. Kidney Int 85(1):49–61
Levey AS, Stevens LA, Schmid CH, Zhang YL, Castro AF 3rd, Feldman HI, Kusek JW, Eggers P, Van Lente F, Greene T et al (2009) A new equation to estimate glomerular filtration rate. Ann Intern Med 150(9):604–612
Article PubMed PubMed Central Google Scholar
Kashtan CE (2021) Alport syndrome: achieving early diagnosis and treatment. Am J Kidney Dis 77(2):272–279
Article CAS PubMed Google Scholar
Vaisitti T, Sorbini M, Callegari M, Kalantari S, Bracciama V, Arruga F, Vanzino SB, Rendine S, Togliatto G, Giachino D et al (2021) Clinical exome sequencing is a powerful tool in the diagnostic flow of monogenic kidney diseases: an Italian experience. J Nephrol 34(5):1767–1781
Article CAS PubMed Google Scholar
Pozzi C, Andrulli S, Del Vecchio L, Melis P, Fogazzi GB, Altieri P, Ponticelli C, Locatelli F (2004) Corticosteroid effectiveness in IgA nephropathy: long-term results of a randomized, controlled trial. J Am Soc Nephrol 15(1):157–163
Article CAS PubMed Google Scholar
Pozzi C, Bolasco PG, Fogazzi GB, Andrulli S, Altieri P, Ponticelli C, Locatelli F (1999) Corticosteroids in IgA nephropathy: a randomised controlled trial. Lancet 353(9156):883–887
Article CAS PubMed Google Scholar
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E et al (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17(5):405–424
Article PubMed PubMed Central Google Scholar
Barker DF, Denison JC, Atkin CL, Gregory MC (2001) Efficient detection of Alport syndrome COL4A5 mutations with multiplex genomic PCR-SSCP. Am J Med Genet 98(2):148–160
Article CAS PubMed Google Scholar
Pont-Kingdon G, Sumner K, Gedge F, Miller C, Denison J, Gregory M, Lyon E (2009) Molecular testing for adult type Alport syndrome. BMC Nephrol 10:38
Article PubMed PubMed Central Google Scholar
Bekheirnia MR, Reed B, Gregory MC, McFann K, Shamshirsaz AA, Masoumi A, Schrier RW (2010) Genotype-phenotype correlation in X-linked Alport syndrome. J Am Soc Nephrol 21(5):876–883
Article CAS PubMed PubMed Central Google Scholar
Groopman EE, Marasa M, Cameron-Christie S, Petrovski S, Aggarwal VS, Milo-Rasouly H, Li Y, Zhang J, Nestor J, Krithivasan P et al (2019) Diagnostic utility of exome sequencing for kidney disease. N Engl J Med 380(2):142–151
Article CAS PubMed Google Scholar
Nozu K, Nakanishi K, Abe Y, Udagawa T, Okada S, Okamoto T, Kaito H, Kanemoto K, Kobayashi A, Tanaka E et al (2019) A review of clinical characteristics and genetic backgrounds in Alport syndrome. Clin Exp Nephrol 23(2):158–168
Migeon BR (2008) X inactivation, female mosaicism, and sex differences in renal diseases. J Am Soc Nephrol 19(11):2052–2059
Jais JP, Knebelmann B, Giatras I, Marchi M, Rizzoni G, Renieri A, Weber M, Gross O, Netzer KO, Flinter F et al (2000) X-linked Alport syndrome: natural history in 195 families and genotype- phenotype correlations in males. J Am Soc Nephrol 11(4):649–657
Article CAS PubMed Google Scholar
Gross O, Netzer KO, Lambrecht R, Seibold S, Weber M (2002) Meta-analysis of genotype-phenotype correlation in X-linked Alport syndrome: impact on clinical counselling. Nephrol Dial Transplant 17(7):1218–1227
Oka M, Nozu K, Kaito H, Fu XJ, Nakanishi K, Hashimura Y, Morisada N, Yan K, Matsuo M, Yoshikawa N et al (2014) Natural history of genetically proven autosomal recessive Alport syndrome. Pediatr Nephrol 29(9):1535–1544
Kamiyoshi N, Nozu K, Fu XJ, Morisada N, Nozu Y, Ye MJ, Imafuku A, Miura K, Yamamura T, Minamikawa S et al (2016) Genetic, clinical, and pathologic backgrounds of patients with autosomal dominant Alport syndrome. Clin J Am Soc Nephrol 11(8):1441–1449
Article CAS PubMed PubMed Central Google Scholar
Berthoux FC, Laurent B, Koller JM, Nicolas J, Alamartine E, Berthoux P, Anselme I (1995) Primary IgA glomerulonephritis with thin glomerular basement membrane: a peculiar pathological marker versus thin membrane nephropathy association. Contrib Nephrol 111:1–6
Article CAS PubMed Google Scholar
Suzuki K, Honda K, Tanabe K, Toma H, Nihei H, Yamaguchi Y (2003) Incidence of latent mesangial IgA deposition in renal allograft donors in Japan. Kidney Int 63(6):2286–2294
Ishiko S, Tanaka A, Takeda A, Hara M, Hamano N, Koizumi M, Ueno T, Hayashi H, Kondo A, Nagai S et al (2021) Utility of glomerular Gd-IgA1 staining for indistinguishable cases of IgA nephropathy or Alport syndrome. Clin Exp Nephrol 25(7):779–787
Article CAS PubMed Google Scholar
Malone AF, Phelan PJ, Hall G, Cetincelik U, Homstad A, Alonso AS, Jiang R, Lindsey TB, Wu G, Sparks MA et al (2014) Rare hereditary COL4A3/COL4A4 variants may be mistaken for familial focal segmental glomerulosclerosis. Kidney Int 86(6):1253–1259
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