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Wednesday, 26 October 2011

Alport's syndrome

- combination of nephritis and sensorineural deafness
X-linked
- autosomal recessive/dominant form cause renal disease without deafness or lenticonus
- males are affected more severely
- mutation of COL4A5 gene (80%), on X chromosome
- caused by abnormality in type IV collagen (alpha 5 chain)
- microsopic hematuria during first decade of life
- may present with acute macroscopic hematurie post URTI
- association: anterior lenticonus, retinopathy, posterior corneal dystrophy, bilateral dot fleck marks around fovea
- diagnosis is by renal biopsy

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