A newborn is found to have bilateral flank masses on prenatal ultrasound. At birth, the infant has palpable flank masses, Potter facies, and Potter sequence with pulmonary hypoplasia. What is the most likely diagnosis?
- A Autosomal dominant polycystic kidney disease (ADPKD)
- B Multicystic dysplastic kidney
- C Autosomal recessive polycystic kidney disease (ARPKD) ✓
- D Wilms tumor
Correct answer: C. Autosomal recessive polycystic kidney disease (ARPKD)
Explanation
ARPKD presents in the neonatal period with massively enlarged bilateral flank masses, Potter facies, and Potter sequence (pulmonary hypoplasia from oligohydramnios). ADPKD rarely presents in infancy and is usually unilateral or asymmetric. Multicystic dysplastic kidney is typically unilateral and non-hereditary. Wilms tumor is not bilateral at birth and does not cause Potter sequence.
Reference: Nelson Textbook of Pediatrics, 21st ed.
High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP
Written and medically reviewed by the StethoPrep medical team.