What is Alport syndrome?

Disease Overview

Alport syndrome is a genetically inherited condition characterized by kidney disease, sensorineural hearing loss, and ocular abnormalities. There are three modes of inheritance for Alport syndrome: X-linked inheritance caused by a gene mutation in the COL4A5 gene which accounts for approximately 80% of diagnoses, autosomal recessive inheritance by mutations in the COL4A3 or COL4A4 genes making up approximately 15% of diagnoses, and autosomal dominant inheritance by mutations in COL4A3 or COL4A4 genes which account for approximately 5% of diagnoses. All modes of inheritance for Alport syndrome damage the kidneys’ glomeruli, preventing the body from filtering excess fluid and waste.

Alport syndrome is categorized as a rare disease, affecting 30,000-60,000 people in the United States and approximately 1 out of every 50,000 newborns. Due to the prevalence of the X-linked mode of inheritance, Alport syndrome more severely affects the male population with 50% of males requiring dialysis or kidney transplantation by age 25 and 90% developing End-Stage Renal Disease (ESRD)  before age 40. In females, 12% develop ESRD by age 40 and about 30% by age 60.

Alport Syndrome: What You Need to Know

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