An Update on Women and Girls with Alport Syndrome
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pediatrics, Perinatology and Child Health
Link
https://link.springer.com/content/pdf/10.1007/s40124-022-00279-8.pdf
Reference39 articles.
1. Alport AC. Hereditary familial congenital haemorrhagic nephritis. Br Med J. 1927;1(3454):504–6.
2. Jais JP, Knebelmann B, Giatras I, De Marchi M, Rizzoni G, Renieri A, et al. X-linked Alport syndrome: natural history in 195 families and genotype- phenotype correlations in males. J Am Soc Nephrol. 2000;11(4):649–57.
3. •• Yamamura T, Horinouchi T, Nagano C, Omori T, N. S, Aoto Y, et al. Genotype-phenotype correlation and the influence of the genotype on response to angiotensin-targeting drugs in Japanese patients with male X-linked Alport syndrome. Kidney Int. 2020. This retrospective review identified a coorelation between treatment of men with X-linked Alport syndrome with RAAS inhibition and later onset of end stage kidney disease, even in patients with severe, truncating mutations.
4. • Gibson J, Fieldhouse R, Chan MMY, Sadeghi-Alavijeh O, Burnett L, Izzi V, et al. Prevalence estimates of predicted pathogenic COL4A3-COL4A5 variants in a population sequencing database and their implications for Alport syndrome. J Am Soc Nephrol. 2021;32(9):2273–90. This study provided updated estimates for the prevalence of Alport syndrome in the population.
5. Savige J, Colville D, Rheault M, Gear S, Lennon R, Lagas S, et al. Alport syndrome in women and girls. Clin J Am Soc Nephrol. 2016;11(9):1713–20.
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1. Genotype–phenotype correlation of X-linked Alport syndrome observed in both genders: a multicenter study in South Korea;Scientific Reports;2023-04-26
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