Dent Disease CLCN5 X-Linked Recessive — ESENeph MCQ

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HardTubular DisordersDent Disease CLCN5 X-Linked RecessiveESENeph

A 30-year-old man with Dent disease (CLCN5 mutation) presents with recurrent nephrolithiasis and progressive CKD (eGFR 45 mL/min/1.73m2). His investigations show low molecular weight proteinuria, hypercalciuria, nephrocalcinosis, and glycosuria. What is the inheritance pattern?

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Correct answer: B — X-linked recessive

Dent disease is an X-linked recessive tubulopathy caused by mutations in CLCN5 (type 1, most common) or OCRL (type 2). CLCN5 encodes a chloride/proton exchanger in the proximal tubule that is essential for receptor-mediated endocytosis. Loss of function causes failure to reabsorb filtered low molecular weight proteins (tubular proteinuria), calcium (hypercalciuria → nephrolithiasis/nephrocalcinosis), phosphate, glucose, and amino acids (partial Fanconi syndrome). It predominantly affects males; carrier females may have mild proteinuria. There is no specific treatment — management focuses on hydration, thiazide diuretics for hypercalciuria, and citrate supplementation to retard nephrocalcinosis.

Reference: Devuyst & Bhatt 2008 – Dent Disease; JRCPTB 2022 – Nephrology Curriculum