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?

**Core Concept**
The underlying principle being tested is the diagnosis of hereditary kidney diseases, specifically those that affect the **glomeruli** and present with **sensorineural deafness** and **hematuria**. This condition is likely related to **Alport syndrome**, a genetic disorder characterized by kidney disease, hearing loss, and eye abnormalities.

**Why the Correct Answer is Right**
Alport syndrome is a genetic disorder caused by mutations in the **COL4A3**, **COL4A4**, or **COL4A5** genes, which code for type IV collagen. This leads to **glomerular basement membrane** thinning and eventual kidney failure. The family history of a maternal uncle dying from the same disease suggests an **X-linked inheritance pattern**, which is common in Alport syndrome.

**Why Each Wrong Option is Incorrect**
**Option A:** This choice is incorrect because it does not match the clinical presentation of Alport syndrome.
**Option B:** Similarly, this option does not align with the symptoms and family history provided.
**Option C:** This choice is also incorrect as it does not correspond to the described condition.
**Option D:** This option is not the correct answer as it does not fit the clinical scenario.

**Clinical Pearl / High-Yield Fact**
A key point to remember is that Alport syndrome often presents with **hematuria**, **proteinuria**, and **progressive kidney disease**, along with **sensorineural deafness**. The disease can be diagnosed by **kidney biopsy** showing characteristic changes on **electron microscopy**, despite normal light microscopy.

**Correct Answer:** D. Alport syndrome.

✓ Correct Answer: A. Alport's syndrome