Alport syndrome

Definition:

Alport syndrome (ATS) is a hereditary hematuric nephropathy with frequent hearing loss and ocular anomalies. Defects of basement membranes arise from mutations in alpha 3, alpha 4, and alpha 5 type IV collagen chains. The mode of inheritance is either X-linked or autosomal recessive, although autosomal dominant form has been observed in a few families. Male patients with X-linked Alport syndrome suffer from severe renal symptoms that progress to end-stage renal disease associated with deafness which starts during the first decade of life, and ocular lesions including anterior lenticonus. Autosomal recessive Alport syndrome is usually severe, showing progressive nephritis and hearing impairment.

References:

[1]. Clifford E Kashtan, et al. Genetic disorders of glomerular basement membranes. Nephron Clin Pract. 2011;118(1):c9-c18. [Content Brief]

[2]. F T van der Loop, et al. Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation. Kidney Int. 2000 Nov;58(5):1870-5. [Content Brief]

[3]. Helen Storey, et al. COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome. J Am Soc Nephrol. 2013 Dec;24(12):1945-54. [Content Brief]

[4]. Laurence Heidet, et al. The renal lesions of Alport syndrome. J Am Soc Nephrol. 2009 Jun;20(6):1210-5. [Content Brief]

[5]. Mir Reza Bekheirnia, et al. Genotype-phenotype correlation in X-linked Alport syndrome. J Am Soc Nephrol. 2010 May;21(5):876-83. [Content Brief]

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