School of Medicine

Department of Genetics

Alport Syndrome

Danielle Mercer1, Fern Tsien2, and Barbara Gordon-Wendt1

1 Department of Communication Disorders, LSUHSC School of Allied Health Professions
2 Department of Genetics, LSUHSC School of Medicine

 

Alport syndrome has an incidence rate of 1 in 50,000 people.  Most cases of Alport syndrome are passed on by X-linked inheritance, but there are also types passed on in autosomal recessive and autosomal dominant forms.  Since most cases are X-linked, more males than females are affected with Alport syndrome.  Males also tend to be more severely affected by Alport syndrome than are females.  This syndrome is associated with progressive mild to severe high-frequency sensorineural hearing loss.  Renal (kidney) and ocular (visual) systems are most affected.  Blood vessels in the kidneys become damaged, eventually leading to end-stage renal disease.

Alport syndrome signs and symptoms:

  • Blood in the urine
  • Vision loss, or decrease in vision
  • Swelling, especially around the eyes, legs, and feet
  • Cataracts
  • High blood pressure
  • Sensorineural hearing loss

Hearing loss in Alport syndrome usually shown up in late childhood or early adolescense.

 

For more information on Alport syndrome, visit the following links:

http://emedicine.medscape.com/article/981126-overview

http://alportsyndrome.org/

For information on support groups for Alport syndrome, visit the following links:

http://www.alportsyndrome.org/

http://www.dailystrength.org/c/Alport-Syndrome/support-group

http://www.mdjunction.com/alport-syndrome