Alport syndrome is an inherited, genetic condition that occurs due to the mutations of the genes COL4A3, COL4A4 and COL4A5. These genes are responsible for the production of type IV collagen (a protein).
It is characterized by kidney disease, hearing loss, eye abnormalities, sensorineural hearing loss and proteinuria.
Symptoms :
Hematuria
Hypertension
Edema
Diagnosis of Alport syndrome :
Urine test
Blood test
Glomerular filtration rate
Kidney biopsy
Hearing test, vision test and genetic test.
Treatment :
Angiotensin converting enzyme inhibitors or Angiotensin receptor blockers
Admin_NHT Staff asked 5 years ago