Alport syndrome

Alport syndrome is a rare familial nephropathy due to abnormalities in type IV collagen.

May be inherited in 1 of 4 patterns: X-linked, autosomal recessive, autosomal dominant or autosomal digenic.

Associated with considerable clinical variability of age of onset of chronic kidney disease or end-stage kidney disease. Frequently associated with sensorineural hearing loss.

Females with X-linked Alport syndrome have a significant lifetime risk of developing hypertension and chronic renal disease.

Strong genotype-phenotype correlations in X-linked Alport syndrome have been described in male patients.

Monitoring and initiation of angiotensin-converting enzyme inhibition is the main treatment.

Alport syndrome is an inherited disease of the glomerular basement membrane caused by abnormalities in type IV collagen.[1]Gubler MC. Inherited diseases of the glomerular basement membrane. Nat Clin Pract Nephrol. 2008 Jan;4(1):24-37. http://www.ncbi.nlm.nih.gov/pubmed/18094725?tool=bestpractice.com It is associated with sensorineural hearing loss, lenticonus (bulging of the lens capsule and the underlying cortex) and retinal abnormalities, as these tissues are additional sites of expression of type IV collagen.[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 ​​​ The classic thickening and lamellation of the glomerular basement produces a progressive haematuric and proteinuric nephritis that progresses to chronic kidney disease in all males with the X-linked form of the disease.[4]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. https://journals.lww.com/jasn/fulltext/2000/04000/x_linked_alport_syndrome__natural_history_in_195.7.aspx http://www.ncbi.nlm.nih.gov/pubmed/10752524?tool=bestpractice.com