Nephronophthisis — ESENeph MCQ

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HardTubular DisordersNephronophthisisESENeph

A young adult has childhood polyuria, growth impairment, bland urine and progressive CKD. Genetic testing shows biallelic NPHP1 deletion. Which inheritance and pathology are characteristic?

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Correct answer: B — Recessive tubulointerstitial disease with corticomedullary cysts

The best answer is “Recessive tubulointerstitial disease with corticomedullary cysts”. Nephronophthisis is an autosomal recessive ciliopathy. Histology shows tubular basement-membrane disruption, tubular atrophy, interstitial fibrosis and corticomedullary cysts, which may be subtle on ultrasound. “Autosomal dominant disease with diffuse glomerular crescents” is less appropriate because NPHP1 nephronophthisis is recessive and predominantly tubulointerstitial “X-linked disease with mesangial IgA deposits” is less appropriate because this does not match the inheritance or histology “Mitochondrial disease with amyloid deposition” is less appropriate because NPHP1-related disease is a ciliopathy rather than amyloidosis “Autosomal dominant disease with enlarged cystic kidneys” is less appropriate because kidneys are often normal-sized or small and the inheritance is recessive

Reference: GeneReviews: nephronophthisis-related ciliopathies: https://www.ncbi.nlm.nih.gov/books/NBK368475/