Autosomal recessive inheritance was suggested by the lack of linkage to the COL4A5/COL4A6 locus, and by linkage to the COL4A3/COL4A4 locus. [ncbi.nlm.nih.gov]

Recent studies suggest that alpha-5 (IV) collagen forms distinct alpha-345 (IV) and alpha-1256 (IV) networks in the GBM. [emedicine.medscape.com]

The finding of haematuria in relatives is suggestive. [ citation needed ] While X-linked inheritance is the most common pattern, genetic testing is revealing that atypical presentations may be more common than currently thought. [en.wikipedia.org]

BACKGROUND: Alport syndrome is an inherited disease resulting in kidney failure, hearing loss and ocular abnormalities. [ncbi.nlm.nih.gov]

Without treatment, 90% of males develop kidney failure by 40 years old. Females develop kidney failure less frequently and more slowly. [kidney.org]

Damage to the GBM and the kidneys is progressive, causing worsening kidney function and, in many cases, eventually kidney failure. [rarediseases.org]

Gradual scarring of the kidneys occurs, eventually leading to kidney failure in many people with Alport syndrome. [ghr.nlm.nih.gov]

In females, who have two X chromosomes, a mutation in one copy of the COL4A5 gene usually results in blood in the urine, but most affected females do not develop kidney failure. [en.wikipedia.org]