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Alport Syndrome, COL4A5, COL4A3, COL4A4, Alport, X-linked, Hearing loss, GBM multilamellation
Diagnose This!

Diagnose This (August 31, 2020)

What is your diagnosis based on this IF staining pattern in a patient with hematuria and proteinuria? …

Alport Syndrome
Teaching Points

Alport Syndrome

This biopsy from a 22-year-old Hispanic male with a history of hematuria, subnephrotic proteinuria, and chronic kidney disease shows essentially…

X-linked Alport syndrome
Teaching Points

Alport Skin

The most common form of Alport syndrome shows an X-linked dominant inheritance pattern and is caused by mutations in the…


Thin Basement Membrane Disease
Teaching Points

Thin Basement Membrane Disease

This 41-year-old female presents with microscopy hematuria and subnephrotic proteinuria. The clinical workup is negative for urinary tract infection, nephrolithiasis…