DISEASE SCANNER
Global Incurable Diseases Tracker
Dent Disease
An X-linked recessive renal tubular disorder caused by CLCN5 or OCRL1 mutations. Characterized by low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, kidney stones, and progressive renal failure. Often presents in childhood.
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15
Symptoms
Treatment Options
Risk Factors
Diagnostic Methods
- 1Genetic testing
- 2Clinical evaluation
- 3Family history assessment
- 4Specialized laboratory tests
- 5Imaging studies
- 6Biopsy (if applicable)
Prognosis
Progressive kidney disease. 30-80% develop ESRD by age 30-50. Rickets responsive to vitamin D. Regular monitoring essential for early intervention.
Prevention
- Genetic counseling
- Carrier screening
- Prenatal diagnosis
- Preimplantation genetic diagnosis
- Family planning
Research Status
Supportive care. Thiazide diuretics may reduce calciuria. Citrate supplements. No specific cure. Monitoring for ESRD. Genetic counseling. Most males progress to ESRD by age 30-50.
Affected Countries
Sources
- https://www.ncbi.nlm.nih.gov/books/NBK1116
- https://medlineplus.gov/genetics
- https://rarediseases.org
Medical Disclaimer
This information is for educational purposes only. Always consult healthcare professionals for medical advice, diagnosis, and treatment.