About Dent Disease
Dent disease is an X-linked recessive disorder of proximal tubular function caused by mutations in CLCN5 (Dent-1) or OCRL (Dent-2), characterised by low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, and nephrolithiasis. Progressive renal failure develops in approximately 30–50% of affected males by the 3rd–5th decade, while female carriers typically manifest only mild tubular dysfunction. Dent-2 disease overlaps with Lowe syndrome and may include mild intellectual disability and cataracts.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Dent Disease trials.
Urine protein electrophoresis confirming low-molecular-weight proteinuria pattern, combined with CLCN5 or OCRL genetic testing, is required for a confirmed diagnosis needed for trial enrolment.
Female carriers have variable expression; some trials restrict enrolment to hemizygous males; clarify sex-based eligibility criteria before applying.
Renal function trajectory and calcium handling indices (24-hour urine calcium, spot urine calcium:creatinine) are key outcome measures; obtain a structured historical dataset from your nephrologist.
Patient Resources
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