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ARPKD — RACP Paediatrics MCQ

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ModerateNephrologyARPKDRACP Paediatrics

A neonate has massively enlarged, hyperechogenic kidneys bilaterally on ultrasound. The mother had oligohydramnios during pregnancy. There is hepatic fibrosis on liver biopsy. The parents are unaffected. What is the most likely diagnosis?

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Correct answer: C — Autosomal recessive polycystic kidney disease

Bilateral enlarged hyperechogenic kidneys in a neonate with oligohydramnios and associated hepatic fibrosis (congenital hepatic fibrosis) is autosomal recessive polycystic kidney disease (ARPKD, PKHD1 gene). Both parents are obligate carriers. Severity is variable. Severe neonatal forms may be fatal from pulmonary hypoplasia. Surviving infants develop portal hypertension from hepatic fibrosis.

Reference: RACP Paediatric Curriculum – Nephrology/Genetics; RCH Melbourne – 2023