Haematuria was present in 15 of the 17 (88%) heterozygous mutation carriers. [ncbi.nlm.nih.gov]

• Suggestibility

  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]

• Kidney Failure

  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]

Clinical Testing and Workup The diagnostic approach to confirming a suspected diagnosis of Alport syndrome has been evolving over the past decade. [rarediseases.org]

This is the first report of pregnancy in a patient with autosomal recessive Alport syndrome with good obstetric and nephrological outcomes in the absence of any treatment or hospitalization. [ncbi.nlm.nih.gov]

Standard Therapies Treatment The treatment of Alport syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. [rarediseases.org]

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

Alport Syndrome treatment at eMedicine Name, Your. "EdRen - Edinburgh Royal Infirmary Renal Unit - Alport anti-GBM disease". www.edren.org. Retrieved 2016-02-17. Tryggvason K, Heikkilä P, Pettersson E, Tibell A, Thorner P (1997). [en.wikipedia.org]

For those with classic Alport syndrome, hearing aids are often required in teenage or young adult years. [ citation needed ] Prognosis [ edit ] Studies of the life expectancy of patients with Alport syndrome are rare, but one 2012 study of 456 male patients [en.wikipedia.org]

[…] has been described very rarely in patients with early-onset disease. [6] Leiomyomas, tumours of smooth muscle affecting the oesophagus and female genital tract, may occur in a rare overlap syndrome involving the adjacent COL4A5 and COL4A6 genes. [10] Pathophysiology [en.wikipedia.org]

Early detection of the mutation may help to prevent or delay the onset of renal failure, and to detect carrier mothers, who are at a higher risk of renal complications themselves. [news-medical.net]

Mutations in these genes result in abnormalities of the type IV collagen in glomeruli, which prevents the kidneys from properly filtering the blood and allows blood and protein to pass into the urine. [ghr.nlm.nih.gov]

Mutations in any of these genes prevent the proper production or assembly of the specialised type IV collagen '345' network which is an important structural component of basement membranes in the kidney, inner ear, and eye. [en.wikipedia.org]

Abnormality of any of these chains, as observed in patients with Alport syndrome, limits formation of the collagen network and prevents incorporation of the other collagen chains. [emedicine.medscape.com]

These drugs are blood pressure medications that prevent (inhibit) an enzyme in the body from producing angiotensin II. Angiotensin II is a chemical that acts to narrow blood vessels and can raise blood pressure. [rarediseases.org]