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| Disease found: | Dent Disease |
| Current as of: | October 8, 2024 |
| Disease Overview: | Renal tubular disease characterized by a primary proximal tubule dysfunction with low-molecular-weight proteinuria |
| Signs and Symptoms: | LMW proteinuria 5-10x the upper limit of normal, calcinuria, calcium kidney stones |
| Diagnosis: | Molecular genetic testing of a CLCN5 or OCRL genetic variant on the X chromosome in males |
| Treatment: | Thiazide diuretics |
| Clinical Management: | Thiazide diuretics to mitigate calcium kidney stones |
| Referral: | Nephrologist, pediatric nephrologist. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health. |
| Clinical Trials: | Currently recruiting: 1 2 3 4 |