Causes And Diagnosis Of Alport Syndrome

Autosomal Recessive Inheritance

When both copies of genes are mutated, an autosomal recessive disorder occurs. In the case of ARAS, both parents pass on a defective gene to their child, and the alpha-3 and alpha-4 genes on chromosome two are defective. Both of the involved parents have only one mutated chromosome, which means they may have no symptoms like blood in the urine. Or affected parents may have some blood in the urine with no disease progression. Also, if both parents have mutated alpha-3 and alpha-4 chains, their children have a twenty-five percent chance of contracting Alport syndrome. Both males and females are affected in a similarly severe manner.

Autosomal Dominant Inheritance

Only five percent of individuals diagnosed with Alport syndrome have ADAS. To have this variety of the condition, the affected individual must have one mutated copy of the alpha-3 or alpha-4 gene. These individuals will experience hearing loss as well as progressively worsening kidney disease. While the progression of ADAS resembles XLAS, patients with ADAS have kidney failure after forty years old. Both males and females have similar symptoms and results from ADAS. They also notice their ancestors have a history of kidney disease as well as hearing loss. Another problem that may arise from ASDAS-like symptoms is thin basement membrane neuropathy or TBMN. TBMN does not cause kidney disease or hearing problems, however.

About half of the children born to ADAS parents may inherit the genetic mutation. Genetic testing is available to help individuals discover whether they may have one of these varieties of Alport syndrome. With this information, well-informed decisions can be made about having children and can gain more knowledge on taking care of themselves.