Alport syndrome

Also known as: Hereditary nephritis with deafness

Hereditary basement membrane disorder with hematuria, progressive kidney failure, hearing loss and eye changes.

Medical specialty: Nephrology
Subspecialty: Nephrology / Hereditary kidney disease
Sex & age distribution: Male: affected, X-linked males severe with kidney failure by 20–40; Female: carriers with hematuria, some progress; Children: yes, hematuria in childhood
Gene(s) involved: COL4A3, COL4A4, COL4A5

Etiology & mechanism

Defective type IV collagen alpha-3, alpha-4 and alpha-5 chains.

Gene(s) involved (3)

COL4A3COL4A4COL4A5

Symptoms & signs (7)

anterior lenticonushematuriahypertensionmacular flecksprogressive kidney failureproteinuriasensorineural hearing loss

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