Case A 10-yr-old boy was seen because of a 3 day episode of macroscopic hematuria occurring shortly after an upper respiratory tract infection. BP and a physical examination were normal. Blood cell count and serum creatinine level (65 μmol/L) were in the normal range. Urine analysis showed 100mg/d microalbuminuria and 106 red blood cells per mn on Addis count. Kidneys were normal by ultrasound. The discrete hearing loss was detected by audiometry.
Family History His mother, a 37-yr-old female, was followed in the adult nephrology unit because of persistent microscopic hematuria discovered on routine urine analysis during a medical screen before employment. She never developed proteinuria or micro-albuminuria, and her GFR was normal. Her husband was said to be healthy. Skin biopsy was performed abnormal staining for COL4A5 in the skin biopsy was seen after evaluation. What is the…
