Alport syndrome

What is Alport syndrome?

Alport syndrome includes hereditary glomerulonephritis and deafness. Up to 85% patients have mutations in X chromosome COL4A5 gene, while 15% are AR with defects in COL4A3 or COL4A4 genes. The defect is in a nonfibrillar basement membrane collagen (type IV collagen), which is an important component of the kidney basement membrane. Patients present with hematuria, sensorineural hearing loss, fleck retinopathy, and lenticonus. They can progress to renal failure.

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