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Nephrology · Nephrology / Hereditary kidney disease

Alport syndrome

also: Hereditary nephritis with deafness

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

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
Alternative names & eponyms
Hereditary nephritis with deafness

Etiology & mechanism

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

Gene(s) involved (3)

Symptoms & signs (7)

In plain terms, someone with Alport syndrome may experience the following — click any to explore related syndromes:

Same gene(s)

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Overlapping symptoms

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