Causes And Diagnosis Of Alport Syndrome

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.

Continue reading to learn about how Alport syndrome is diagnosed.