Question

A 40-year-old man with a known case of hypertension presented with multiple episodes of hematuria and loin pain. His elder brother passed away due to a stroke at the age of 40. The ultrasound abdomen is shown below. What is the probable diagnosis?

• A. Renal cell carcinoma
• B. Autosomal dominant polycystic kidney disease
• C. Tuberculosis of the kidney
• D. Autosomal recessive polycystic kidney disease

Answer 1

The Correct Option is B

The clinical presentation and family history in this case suggest a specific renal condition. Let's analyze the clues:

1. The patient is 40 years old with a history of hypertension. Hypertension is common in kidney-related disorders.
2. He has multiple episodes of hematuria (blood in urine) and loin pain. These symptoms can indicate underlying kidney issues.
3. His elder brother died of a stroke at the age of 40. This suggests a genetic component with possible vascular involvement, often seen in certain hereditary diseases.
4. The ultrasound, though not visible here, likely shows characteristic findings associated with the listed options.

Now, let's correlate these findings with the options provided:

1. Renal cell carcinoma: Typically presents with hematuria but less likely to have a strong family history or cause in siblings.
2. Autosomal dominant polycystic kidney disease (ADPKD): This disease is characterized by bilateral kidney enlargement with cysts. Symptoms often include hypertension, hematuria, and possible chronic pain. It has a clear genetic pattern, commonly associated with family history of renal issues or early strokes due to cerebral aneurysms.
3. Tuberculosis of the kidney: Uncommon in presenting with hematuria and genetic ties.
4. Autosomal recessive polycystic kidney disease (ARPKD): Usually presents in infancy or childhood, not likely at the age of 40.

Considering the clinical presentation, family history, and the standard age of onset, the most probable diagnosis is Autosomal dominant polycystic kidney disease (ADPKD).