The finding of haematuria in relatives is suggestive. While X-linked inheritance is the most common pattern, genetic testing is revealing that atypical presentations may be more common than currently thought. Genetic testing
Genetic testing plays an increasingly important role in confirming the diagnosis where the clinical features do not amount to proof. Other tests
The use of eye examinations for screening has been proposed. Other tests may include a urine or blood test. Treatment
Kidney disease and renal failure
In addition to measures for chronic kidney disease (CKD) of any cause, there is evidence that ACE inhibitors can slow the deterioration of kidney function in Alport syndrome, delaying the need for dialysis or transplantation. The development of proteinuria has been recommended as an indication for commencing treatment.Once kidney failure has developed, patients usually do well on dialysis or with a kidney transplant. Transplantation can rarely be associated with the formation of antibodies to type IV collagen in the donor kidney resulting in progressive graft failure as a result of Goodpasture syndrome (Alport post-transplant anti-GBM disease).Gene therapy has been frequently discussed, but delivering it to the podocytes in the glomerulus that normally produce the type IV collagen in the glomerular basement membrane is challenging. Hearing loss
It is not known whether ACE inhibitors or other treatments affect hearing loss. For those with classic Alport syndrome, hearing aids are often required in teenage or young adult years.
Macular abnormalities such as incomplete foveal hypoplasia or staircase foveopathy are common in Alport syndrome.It may also be associated with retinitis pigmentosa. Leiomyomatosis
Diffuse leiomyomatosis of the oesophagus and tracheobronchial tree has been reported in some families with Alport syndrome. Symptoms usually appear in late childhood and include dysphagia, postprandial vomiting, substernal or epigastric pain, recurrent bronchitis, dyspnea, cough, and stridor. Leiomyomatosis is confirmed by computed tomography (CT) scanning or magnetic resonance imaging (MRI). Other abnormalities
Aortic dissection has been described very rarely in patients with early-onset disease. 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. Pathophysiology
Alport Syndrome is a relatively common genetic disorder affecting around 1 in 5,000-10,000 children,

Genetics
Alport syndrome is caused by mutations in COL4A3, COL4A4, and COL4A5, three of six human genes involved in basement membrane (type IV) collagen biosynthesis. 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. It is also found in other locations, including the alveoli of the lungs. Basement membranes are thin, sheet-like structures that separate and support cells in many tissues. Type IV collagen 112 type is found in both vertebrates and invertebrates and is the major isoform in most human basement membranes.