From the Research
Dent disease is a rare genetic kidney disorder characterized by excessive calcium and protein in the urine, kidney stones, and progressive kidney damage, primarily affecting males due to its X-linked recessive nature, as reported in the most recent study 1.
Key Characteristics
- Caused by mutations in the CLCN5 or OCRL1 genes
- Symptoms include low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and kidney failure
- Affects mainly males, with female carriers showing a milder phenotype
- Prevalence is unknown, with around 250 families reported to date
Clinical Presentation
- Highly variable, with symptoms appearing in childhood or early adulthood
- Includes rickets, kidney stones, nephrocalcinosis, and proteinuria
- May progress to chronic kidney disease, with 30-80% of patients developing end-stage renal disease by middle age
Diagnosis and Management
- Diagnosis based on presence of low-molecular-weight proteinuria, hypercalciuria, and at least one of the following: nephrocalcinosis, kidney stones, hematuria, hypophosphatemia, or renal insufficiency
- Molecular genetic testing confirms the diagnosis
- Treatment focuses on managing symptoms, including adequate hydration, thiazide diuretics, and citrate supplements
- Regular monitoring of kidney function is essential to slow kidney damage progression, as highlighted in the latest clinical practice recommendations 1.
Prognosis
- Vital prognosis is good in the majority of patients
- Progression to end-stage renal failure occurs between the 3rd and 5th decades of life in 30-80% of affected males, as reported in the study 2.