Alport syndrome is a genetic disorder characterized by hereditary nephritis and deafness. It is caused by mutations in the COL4A5 gene, which is inherited in an X-linked pattern. Males experience more severe symptoms while females may only show blood in the urine. Symptoms include hematuria, nephropathy, hypertension, and progressive hearing loss beginning around age 10. Management involves maintaining renal function through treatments like hemodialysis or kidney transplantation as well as monitoring hearing and providing speech therapy and hearing aids. The prognosis is generally poor for affected males and fair to good for affected females.
7. INCIDENCE The disorder is uncommon, and most often affects males. Women can transmit the gene for the disorder to their children, even if they have no symptoms. 74% of males are usually diagnosed as having the disease before age 6.
8. PREVALENCE Alport syndrome is approximately reported 1 of 5000 births.
17. HEARING CHARACTRISTICS In Alport syndrome “BILATERAL PROGRESSIVE SENSORINEURAL HEARING IMPAIRMENT” Genetically based hearing impairment The hearing impairment occurs more frequently in patients and begins with gradual onset at about age 10. Loss of cochlear neurons and haircells Atrophy of striavascularis and spiral ligament and endolympatichydrops.
