A 15-year-old male presents with hematuria. he has previous diagnoses of deafness and corneal dystrophy. Urinalysis shows 1 + proteins, no ketones, no glucose, 1+ blood, and no leukocytes. A renal biopsy reveals tubular epithelial foam cells by light microscopy. By electron microscopy, the glomerular basement membrane shows areas of attenuation, with splitting and lamination of lamina dense in other thickened areas. The most probable diagnosis is-
Correct Answer: Alpo syndrome
Description: Alpo syndrome: Electron Microscopy is diagnostic and shows "basket weave appearance" of the GBM. Alpo syndrome: Hereditary nephritis Abnormal a3 (COL4A3), a4 (COL4A4), or a5 (COL4A5) chain of type IV collagen Hematuria with progression to chronic renal failure Nerve deafness Eye disorders Foamy cells in the interstitium. Ref: RAM DAS NAYAK EXAM PREPARATORY MANUAL FOR UNDERGRADUATES 2nd ed. pg no: 612
Category:
Pathology
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