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Alport syndrome
Make it clearer
Alport syndrome is a genetic disease, meaning it is written in the genes. It does not affect a single organ: it combines kidney disease, hearing loss, and eye changes.
What is altered is type IV collagen, a protein that plays an important role in the kidney, specifically in the glomerulus, the microscopic filter the kidney uses to clean the blood. The COL4A3, COL4A4, and COL4A5 genes carry the instructions for making its parts. When that collagen is abnormal, the filter lets through what it should hold back: blood appears in the urine, which is called hematuria, and protein appears in the urine, which is called proteinuria. It is a sieve whose mesh was poorly woven at the factory.
The same collagen is present in the inner ear, and when it is abnormal there, the ear does not work properly, which can lead to hearing loss. That is how a disease of the collagen genes can also explain why someone has hearing loss.
In brief
Alport syndrome is a genetic disease that combines three problems: kidney disease, hearing loss, and eye changes.
It is caused by variants in the COL4A3, COL4A4, and COL4A5 genes, which encode a component of type IV collagen, a protein that plays an important role in the glomerulus.
When that collagen is altered, the kidney filters poorly and lets blood and protein leak into the urine; the same defect in the inner ear can lead to hearing impairment.
It is a sieve whose mesh was poorly woven at the factory.
Sources (2)
- National Center for Biotechnology Information, StatPearls PublishingAlport Syndrome, StatPearlsPublished
- MedlinePlus Genetics, U.S. National Library of MedicineAlport syndrome, MedlinePlus GeneticsPublished
This page explains the topic in general terms; it does not tell anyone what treatment to follow.
Updated