ARPKD — RACP Paediatrics MCQ

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A neonate has massively enlarged hyperechogenic kidneys bilaterally. Oligohydramnios in pregnancy. Hepatic fibrosis on biopsy. Parents unaffected. What is the diagnosis?

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Correct answer: A — ARPKD

Bilateral enlarged hyperechogenic neonatal kidneys with hepatic fibrosis = ARPKD (PKHD1 gene, AR). Severe forms: pulmonary hypoplasia. Survivors develop portal hypertension.

Reference: RACP Paediatric Curriculum – Nephrology/Genetics