Alport Syndrome with Atypical Clinical and Histological Features: A Diagnostic Challenge

Alport syndrome is a rare glomerular syndrome of genetic origin that is either X-linked, autosomal dominant, or autosomal recessive. Its manifestations include renal signs such as hematuria, proteinuria, and eventual kidney failure along with associated otological and ophthalmic features. Case Presentation: A 31-year-old previously healthy male presented with incidental hematuria and frothy urine detected on a routine urinalysis. Follow-up testing showed abnormal findings in a urine spot test that required further evaluation by kidney biopsy. The kidney showed findings suggestive of Alport syndrome. This case demonstrates the necessity of following up on abnormal urinalysis tests in individuals with a family history or relevant risk factors. In our case, histological characteristics were atypical for Alport syndrome and family history supported the diagnosis. It also demonstrates that a combination of histological findings and family history can guide the diagnosis of Alport syndrome, particularly in resource-limited settings where genetic testing is unavailable.