Definition of Alport syndrome
Alport syndrome is a rare genetic disorder, characterized by glomerulonephritis, end-stage kidney disease, and hearing loss. Alport syndrome can also affect the eyes, though the changes do not usually affect vision, except when changes to the lens occur in later life. Blood in urine is universal. Proteinuria is a feature as kidney disease progresses.
The disorder was first identified in a British family by the physician Cecil A. Alport in 1927. Alport syndrome once also had the label hereditary nephritis, but this is misleading as there are many other causes of hereditary kidney disease and 'nephritis'.
Alport syndrome is caused by an inherited defect in type IV collagen—a structural material needed for the normal function of different body parts. Since type IV collagen is found in the ears, eyes, and kidneys, this explains why Alport syndrome affects different seemingly unrelated parts of the body (ears, eyes, kidneys, etc.).
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Frequently asked questions
What is Alport syndrome?
Alport syndrome is a rare genetic disorder, characterized by glomerulonephritis, end-stage kidney disease, and hearing loss.
Sources & credits
- Wikipedia: Alport syndrome – CC BY-SA 4.0
- Image by Klaus D. Peter, Gummersbach, Germany – CC BY 3.0