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Nephronophthisis — RACP Paediatrics MCQ

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HardNephrologyNephronophthisisRACP Paediatrics

A 10-year-old presents with chronic renal impairment, polyuria (concentrating defect), and small kidneys on ultrasound with loss of corticomedullary differentiation. There is a family history of kidney failure in the teens. Genetic testing shows an NPHP1 deletion. What is the most likely diagnosis?

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Correct answer: A — Nephronophthisis

Nephronophthisis is the most common genetic cause of ESKD in children and young adults. It presents with polyuria (concentrating defect), growth failure, and progressive CKD. Ultrasound shows normal-to-small kidneys with loss of corticomedullary differentiation (not large cystic kidneys). NPHP1 deletion is the most common cause. There is no specific treatment; management is supportive with eventual transplantation.

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