Alport syndrome

Background

Alport Syndrome is an autoimmune disorder affecting Type 4 Collagen that includes kidney disease, hearing loss, and eye abnormalities. The genetic disease classically also manifests with hematuria and proteinuria as the disease progresses to ESRD. The issues are related to a mutation in the COL4A5 (collagen) gene and are inherited in an X-linked pattern.[1]

Clinical Features

The degree of clinical features are related to the severity of the organ systems involved. Most common patient will have:

Differential Diagnosis

Hematuria

Evaluation

Management

Disposition

See Also

External Links

References

  1. ↑ Kashtan CE. Familial hematurias: what we know and what we don't. Pediatr Nephrol. 2005 Aug;20(8):1027-35.

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