An 18-year-old man has persistent microscopic haematuria detected on routine testing. He has bilateral sensorineural hearing loss, and slit lamp examination shows anterior lenticonus. His maternal uncle required dialysis for kidney failure. Which electron microscopic finding confirms the diagnosis?

• A Subepithelial hump-shaped deposits
• B Mesangial deposition of IgA on immunofluorescence
• C Diffuse effacement of epithelial cell foot processes alone
• D Splitting and lamellation of the lamina densa producing a basket weave pattern ✓

Explanation

The triad of hereditary nephritis, sensorineural deafness, and ocular lesions such as anterior lenticonus indicates Alport syndrome, caused by mutations in the alpha-5 chain of type IV collagen (COL4A5), usually X linked. Electron microscopy shows irregular thinning with progressive splitting and lamellation of the GBM, the basket weave appearance. Foot process effacement occurs in many proteinuric diseases and is not diagnostic.

Reference: Robbins and Cotran Pathologic Basis of Disease, 10th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.