12-year-old boy with a history of deafness and recurrent hematuria present with CKD. Family history revealed death of his maternal uncle due to same disease. Kidney biopsy was performed and showed a normal light microscopy. What is the probable diagnosis?
Ans. (A) Alport's syndrome(Ref: Harrison's Principle of Internal Medicine 20th Ed; Page No-2284)Deafness/Hematuria and Family history with CKD: Suggestive Alport syndrome.Deafness and CKD is not a feature of thin absent membrane disease.Normal light microscopy rules out PSGN and Goodpasture syndrome.
Alport's syndrome
Good pasture syndrome
Thin basement membrane disease
PSGN
Kidney