|Description||Alport syndrome 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.|
|Gene||(autosomal) COL4A3 [HSA:1285] [KO:K06237]
(autosomal) COL4A4 [HSA:1286] [KO:K06237]
(X-linked) COL4A5 [HSA:1287] [KO:K06237]
|Other DBs||ICD-10: Q87.8
OMIM: 301050 203780 104200
|Reference||PMID:18094725 (gene, description)
Inherited diseases of the glomerular basement membrane.
Nat Clin Pract Nephrol 4:24-37 (2008)
PMID:21071975 (gene, description)
Kashtan CE, Segal Y
Genetic disorders of glomerular basement membranes.
Nephron Clin Pract 118:c9-c18 (2011)
PMID:19470679 (gene, description)
Heidet L, Gubler MC
The renal lesions of Alport syndrome.
J Am Soc Nephrol 20:1210-5 (2009)