Alport syndrome diagnostic criteria: Difference between revisions
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Diagnostic criteria
Gregory et al, 1996, give the following 10 criteria for the diagnosis of Alport syndrome [1]. 4 of the 10 criteria must be met for an accurate diagnosis:
- Family history of nephritis and of unexplained hematuria in a first degree relative of the index case or in a male relative linked through any numbers of females.
- Persistent hematuria without evidence of another possibly inherited nephropathy such as thin GBM disease, polycystic kidney disease or IgA nephropathy.
- Bilateral sensorineural hearing loss in the 2000 to 8000 Hz range. The hearing loss develops gradually, is not present in early infancy and commonly presents before the age of 30.
- A mutation in a COL4An gene (where n = 3, 4 or 5).
- Immunohistochemical evidence of complete or partial lack of the Alport epitope in glomerular, or epidermal basement membranes, or both.
- Widespread glomerular basement membrane ultrastructural abnormalities, in particular thickening, thinning and splitting.
- Ocular lesions including anterior lenticonus, posterior subcapsular cataract, posterior polymorphous dystrophy and retinal flecks.
- Gradual progression to ESRD in the index case of at least two family members.
- Macrothrombocytopenia or granulocytic inclusions.
- Diffuse leiomyomatosis of the esophagus or female genitalia, or both.