Alport+syndrome

CRS.Straw [|Alport syndrome]--

- Located on the X chromosome - Inherited disease of the kidney, inner ear and eye. The mutations of Alport syndrome affect the alpha-3, alpha-4, or alpha-5 type IV collagen chains. - Renal disease and deafness are symptoms associated with Alport syndrome. - Men are the most affected by Alport syndrome. - Diagnosis: Kidney biopsy, skin biopsy, examining the alpha-3, alpha-4, and alpha-5 chain genes, clinical features, and family history - Treatments for Alport Syndrom include: dialysis, renal (kidney) transplantation, and we hope gene therapy will some day become a cure by replacing the faulty COL4A5 gene. - Yes people can live a normal life with treatment for Alport Syndrome although it can cause dramatic affects for them, and no it is not always fatal but could very well be in some cases. - Scientists are working on even more therapies and cures for kidney failure in people with Alport Syndrome by studying and using models of mice and dogs that have it for tests. sources: [] []