Nephronophthisis — RACP Paediatrics MCQ

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HardNephrologyNephronophthisisRACP Paediatrics

A 10-year-old has CKD, polyuria, small kidneys with lost corticomedullary differentiation. Family history of teenage renal failure. NPHP1 deletion found. What is the diagnosis?

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Correct answer: E — Nephronophthisis

Nephronophthisis: most common genetic cause of ESKD in children. Concentrating defect, small kidneys, NPHP1 deletion. No specific treatment; transplant eventually.

Reference: RACP Paediatric Curriculum – Nephrology/Genetics