Alport syndrome may occur as a result of X-linked recessive inheritance of a single mutated COL4A5 gene. In this inheritance pattern, the mutated gene occurs in the X chromosome. It is uncommon for females, who have two X chromosomes, to have a mutated copy of the COL4A5 gene in both. The unaffected X chromosome typically prevents the development of the more acute symptoms of the Alport syndrome. Males who have inherited the mutated gene have just one X chromosome, however, and experience symptoms more acutely.
This site offers information designed for educational purposes only. You should not rely on any information on this site as a substitute for professional medical advice, diagnosis, treatment, or as a substitute for, professional counseling care, advice, diagnosis, or treatment. If you have any concerns or questions about your health, you should always consult with a physician or other healthcare professional.