Gregory et al proposed criteria for making the diagnosis of Alport Syndrome in a patient.
(1) family history of nephritis or unexplained hematuria in (a) a first-degree relative or (b) a male relative linked through females (X-linked inheritance)
(2) (a) persistent hematuria and (b) no evidence of another inherited nephropathy that can explain the findings better
(3) gradual progression to end-stage renal disease in patient or in >= 2 family members
Molecular and ultrastructural criteria:
(1) mutation in the gene encoding the alpha-3, alpha-4 or alpha-5 chain of Type IV collagen
(2) immunohistochemical evidence of partial or complete lack of the Alport epitope in the (a) glomerular basement membrane, (b) the epidermal basement membrant, or (c) both.
(3) widespread ultrastructural abnormalities in the glomerular basement membrane
(1) (a) thrombocytopenia with giant platelets, or (b) granulocytic inclusions
(2) diffuse leimyomatosis in the esophagus and/or female genitalia
(3) ocular abnormalities including anterior lenticonus, posterior subcapsular cataract, posterior polymorphous dystrophy, and retinal flecks
(4) bilateral sensorineural hearing loss in the range of 2,000 - 8,000 Hz, which is not present at birth and which develops gradually before middle age
• A patient can be diagnosed with Alport Syndrome if there are >= 4 of these criteria present.
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Specialty: Nephrology, Clinical Laboratory