Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Alport Syndrome

Alport syndrome is clinically characterized by a hereditary nephritis sensorineural deafness and a plethora of ocular abnormalities. The ultrastructural link between these different manifestations is a basement membrane disorder affecting highly differentiated basement membranes that are present in the glomerulum, organ of Corti and at some ocular localizations.


About 1% of the whole population of dialysis patients suffer from Alport syndrome. It is the most common cause of dialysis among children, however. X-linked Alport syndrome caused by COL4A5 mutations is the most common form. It accounts for 80% of cases. Hence, most of the patients are male. The frequency of heterozygous carriers is 1 in 1000.

Test Strategy

If tumors and inflammatory processes are excluded, a positive family history and a hematuria seems to be sufficient reasons for genetic testing particularly in female. Renal biopsy is recommended in these cases only where family history and clinical symptoms are not typical or mutation screening did not succeed in detecting the relevant mutation.


On the molecular level we find disturbances of collagen type IV caused by mutations in one of the genes COL4A5, COL4A4 or COL4A3.




Glomerular basement membrane disorders
Alport Syndrome
HANAC syndrome
Leiomyomatosis with Alport syndrome, Smooth muscle tumors and Alport syndrome
MYH9 related disorders
Nail-patella syndrome
Nephropathy with pretibial epidermolysis bullosa and deafness
Thin basement membrane nephropathy
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