Alport syndrome have first described by Doctor Cecil Alport in year 1927. This disease have an X linked ot autosomal recessive inheritance. For this reason, only males will affected. This syndrome is a rare genetic disease that have reported in 1 of 50.000 people. In alport syndrome a structural defect of type IV collagen is available that affects the kidneys glomerulus. This disease can also affect the tissues of eye lens, but the vision will usually not affected.
This disease mostly have an X linked inheritance, that only affects males. The defective genes are on X chromosome and the females have 2 X cromosomes. In this disease healthy X chromosome is dominant to diseased one. So, females will never develop X linked form of this disease. % 85 of Alport syndrome patients have X-linked inherited form of this disease. In this patients, COL4A5 gene mutations on X chromosome have caused to this disease.
Alport syndrome has an autosomal recessive form also. This form can seen in females too. In this form fresh mutation rate is very low. Because of it, parents of an individual with autosomal recessive Alport syndrome will carry the defective gene. %15 part of this disease is autosomal recessive inherited form. In autosomal recessive form, the defective genes are COL4A3 or COL4A4 that is on chromosome 2.
The primary goal of the treatment is monitoring and controlling progression of renal involvement. Using ACE inhibitors will help to slowing the progression of renal disease. With it, blood pressure must be followed for a long time. With it, chronic kidney failure progresses to end-stage renal disease that needs dialysis. Renal transplantation may beneficial for chosen patients.
Both of X-linked and autosomal recessive inherited disease lifespan is similar. In these patients end stage renal failure average age is 25 years of age. Almost all of these patients will need renal transplantation before 35 years of age. The average life expectancy of these patients is about 50 years with all treatments involving renal transplantation also.
Only %3-4 of Alport Syndrome is autosomal dominant type and they will live more than 70 years of age.