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ARPKD — RACP Paediatrics MCQ

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ModerateNephrologyARPKDRACP Paediatrics

A 6-month-old boy is found to have bilateral polycystic kidneys on prenatal and postnatal ultrasound. He has enlarged echogenic kidneys. His parents' renal ultrasounds are normal. What is the inheritance pattern?

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Correct answer: E — Autosomal recessive

Autosomal recessive polycystic kidney disease (ARPKD) presents in infancy with bilaterally enlarged echogenic kidneys. Parents' kidneys are normal (unlike ADPKD where one parent typically has cysts). ARPKD is caused by PKHD1 mutations. It is associated with congenital hepatic fibrosis. Prognosis depends on severity of renal and pulmonary involvement.

Reference: RCH Melbourne – 2024 – Clinical Practice Guidelines: Polycystic Kidney Disease