In a 23 year-old male with proteinuria, hematuria and CKD, what is your diagnosis?
This electron microscopy shows marked GBM abnormalities, consistent with Alport’s Syndrome (AS). The patient had genetic testing, which confirmed a COL4A3 mutation. Immunofluorescence stain for Collagen IV alpha 5 shows no GBM staining (Figure 2), but preserved Bowman’s capsule staining, consistent with autosomal recessive AS. Staining for collagen IV alpha 2 confirms lack of staining along GBMs (Figure 3); nuclei are highlighted in blue DAPI staining.
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