Alport syndrome

Alport syndrome is a rare disease and the prevalence is not well known. The estimated prevalence in the US is 20:100,000 and in Europe 1 to 9:100,000.[17]Levy M, Feingold J. Estimating prevalence in single-gene kidney diseases progressing to renal failure. Kidney Int. 2000 Sep;58(3):925-43. http://www.kidney-international.org/article/S0085-2538(15)47184-4/fulltext http://www.ncbi.nlm.nih.gov/pubmed/10972657?tool=bestpractice.com The majority of cases (85%) are X-linked, with the remainder being mainly autosomal recessive. The disease accounts for approximately 3% of children and 0.2% of adults with chronic kidney disease and for >1% of patients receiving renal replacement therapy.[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. https://academic.oup.com/ndt/article/32/6/916/3059399/Advances-and-unmet-needs-in-genetic-basic-and http://www.ncbi.nlm.nih.gov/pubmed/27190345?tool=bestpractice.com The majority of patients with chronic kidney disease are male due to the X-linked inheritance pattern. No clear evidence for significant ethnic variation is available.