Alport syndrome

Historical and symptomatic criteria

The following criteria suggest strong clinical evidence for the diagnosis of classic Alport syndrome:[24]Flinter FA, Cameron JS, Chantler C, et al. Genetics of classic Alport's syndrome. Lancet. 1988 Oct 29;2(8618):1005-7. http://www.ncbi.nlm.nih.gov/pubmed/2902439?tool=bestpractice.com [26]Savige J, Storey H, Watson E, et al. Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria. Eur J Hum Genet. 2021 Aug;29(8):1186-97. https://www.nature.com/articles/s41431-021-00858-1 http://www.ncbi.nlm.nih.gov/pubmed/33854215?tool=bestpractice.com

• Haematuria with or without progression to chronic kidney disease, together with a family history of haematuria or renal failure

• Proteinuria

• Progressive sensorineural hearing loss

• Characteristic ocular changes (anterior lenticonus [bulging of the lens capsule and the underlying cortex]/maculopathy)[2]Jacobs K, Meire FM. Lenticonus. Bull Soc Belge Ophtalmol. 2000;(277):65-70. http://www.ncbi.nlm.nih.gov/pubmed/11126676?tool=bestpractice.com [3]Kashtan C. Multidisciplinary management of Alport syndrome: current perspectives. J Multidiscip Healthc. 2021 May 21:14:1169-80. https://www.dovepress.com/multidisciplinary-management-of-alport-syndrome-current-perspectives-peer-reviewed-fulltext-article-JMDH http://www.ncbi.nlm.nih.gov/pubmed/34045864?tool=bestpractice.com

• Typical ultra-structural changes in the glomerular basement membrane

Additional criteria may include diffuse leiomyomatosis and abnormal distribution of type IV collagens in skin or kidney biopsy.[42]Kashtan CE. Diagnosis of Alport syndrome. Kidney Int. 2004 Sep;66(3):1290-1 http://www.kidney-international.org/article/S0085-2538(15)50192-0/fulltext http://www.ncbi.nlm.nih.gov/pubmed/15327435?tool=bestpractice.com