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Joubert Syndrome Nephronophthisis CEP290 — ESENeph MCQ

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HardTubular DisordersJoubert Syndrome Nephronophthisis CEP290ESENeph

A 16-year-old has polyuria, salt wasting, anaemia and progressive CKD. Ultrasound shows small echogenic kidneys with corticomedullary cysts. Retinitis pigmentosa is present, but there is no family history. Which diagnosis best unifies the findings?

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Correct answer: E — Senior–Løken syndrome within the nephronophthisis-related ciliopathy spectrum

Explanation lettering: E = shown as A · A = shown as B · B = shown as C · C = shown as D · D = shown as E

D is correct. Nephronophthisis causes a concentrating defect, salt wasting, anaemia out of proportion to kidney function and progressive tubulointerstitial CKD with normal-sized or small kidneys and corticomedullary cysts. Retinal dystrophy defines the Senior–Løken phenotype within nephronophthisis-related ciliopathies. Recessive inheritance means a negative family history is common. UMOD-associated disease is dominant and is associated more often with gout than retinal degeneration. Medullary sponge kidney typically causes stones in otherwise preserved renal function, while ADPKD produces enlarged cystic kidneys.

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