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Dent disease — ESENeph MCQ

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HardInherited and Rare Renal DiseaseDent diseaseESENeph

A 19-year-old man has recurrent calcium-phosphate stones, nephrocalcinosis, low-molecular-weight proteinuria and mild hypophosphataemia. His maternal uncle developed kidney failure at 42. Which test most directly confirms the suspected disorder?

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Reveal the answer and explanation

Correct answer: D — Sequence CLCN5, followed by OCRL analysis if negative

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

B is correct. Low-molecular-weight proteinuria, hypercalciuria, stones or nephrocalcinosis and an X-linked pedigree are characteristic of Dent disease. CLCN5 causes Dent disease 1 and is the first molecular target; OCRL causes Dent disease 2 and is considered when CLCN5 testing is negative and the phenotype remains persuasive. SLC12A3-associated Gitelman syndrome causes hypocalciuria rather than this pattern. PKD1 disease produces an enlarged cystic-kidney phenotype, while Fabry disease does not usually present as this proximal-tubular stone disorder.

Reference: GeneReviews: Dent disease: https://www.ncbi.nlm.nih.gov/books/NBK99494/