Clinical scenario: Hypertension | Renal cysts | Extra renal complications
A 12-year-old boy is evaluated for recurrent headaches. Examination reveals blood pressure of 150/96 mmHg. Urinalysis shows microscopic hematuria without significant proteinuria. His father developed end-stage kidney disease in his 40s. Renal ultrasound demonstrates multiple bilateral renal cysts.
Which extrarenal complication should be actively screened for in this patient?
A. Berry aneurysm
B. Hepatoblastoma
C. Pheochromocytoma
D. Retinal detachment
E. Wilms tumor
Correct answer & Explanation:
Correct answer: A. Berry aneurysm
Explanation:
This child has autosomal dominant polycystic kidney disease (ADPKD), suggested by:
- Positive family history
- Bilateral renal cysts
- Hypertension
- Microscopic hematuria
The most important extrarenal association is an intracranial (berry) aneurysm, which may rupture and cause subarachnoid hemorrhage. Screening is recommended in selected high-risk individuals, particularly those with a family history of intracranial aneurysm or high-risk occupations.
Why the other options are incorrect:
- B. Hepatoblastoma – Associated with Beckwith-Wiedemann syndrome, not ADPKD.
- C. Pheochromocytoma – Associated with MEN2 and von Hippel–Lindau syndrome.
- D. Retinal detachment – More typical of Alport syndrome or connective tissue disorders.
- E. Wilms tumor – Associated with WT1-related syndromes (e.g., WAGR, Denys-Drash), not ADPKD.
Key point:
Hypertension in a child with bilateral renal cysts and a positive family history strongly suggests ADPKD. The hallmark extrarenal complication is an intracranial (berry) aneurysm.
