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Currently filtering by tag: Alport

Diagnose This (August 31 ,2020)

Alport Syndrome, COL4A5, COL4A3, COL4A4, Alport, X-linked, Hearing loss, GBM multilamellation
Q: What is your diagnosis based on this IF staining pattern in a patient with hematuria and proteinuria?   The immunofluorescence image is that of an Alport panel. The red staining highlights the alpha 2 subunit of collagen type IV while the green staining is that of the alpha 5 subunit of collagen type IV. The image shows segmental loss of the alpha 5 staining of type IV collagen along the glomerular basement membranes compatible with Alport syndrome. Alport syndrome is an inherited disease secondary to mutations in the alpha 3, 4, and 5 subunits of type IV collagen. The...