Alport syndrome facts*
*Alport syndrome facts medical author: Melissa Conrad Stöppler, MD
- Alport syndrome is a genetic (inherited) disease.
- Signs and symptoms of Alport syndrome include hearing loss, eye problems, and blood in the urine, signifying loss of kidney function.
- Alport syndrome occurs in 1 out of 50,000 newborns.
- Mutations in the genes COL4A3, COL4A4, and COL4A5 cause Alport syndrome. These genes code for proteins responsible for the formation of a component of collagen Type IV.
- Different patterns of genetic inheritance have been observed in Alport syndrome.
- About 80% of cases of Alport syndrome are inherited in an X-linked manner (meaning the gene defect is on the X chromosome). About 15% of cases show autosomal recessive inheritance, and about 5% of cases are inherited in an autosomal dominant manner.
- Congenital hereditary hematuria is another name for Alport syndrome.
Medically Reviewed by a Doctor on 3/3/2014
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