Manitoba Nephrology Nurse Practice Test

Alport's Syndrome is primarily associated with mutations in genes located on the X chromosome, particularly the COL4A5 gene. This gene is responsible for producing type IV collagen, which is important for the structure and function of basement membranes, specifically in the kidneys, ears, and eyes. The X-linked inheritance pattern means that the syndrome predominantly affects males, while females can be carriers and may experience milder symptoms due to the presence of a second, normally functioning X chromosome.

The association with the X chromosome highlights the importance of genetic factors in the development of this condition, as these mutations lead to the characteristic symptoms of Alport's Syndrome, including renal disease, hearing loss, and ocular abnormalities. Understanding the genetic basis of this syndrome can assist healthcare professionals in making accurate diagnoses and guiding management strategies for affected individuals and their families.