Conditions / Urinary
Dent disease 2
info · Urinary
A Dent disease that is characterized by low molecular weight proteinuria and other features of Fanconi syndrome but typically do not include proximal renal tubular acidosis and that has_material_basis_in mutation in the OCRL gene on chromosome Xq26.
Signs and symptoms
- Low-molecular-weight proteinuria
- Hypercalciuria
- Mild global developmental delay
- Hypophosphatemia
- Chronic kidney disease
- Cognitive impairment
- Proximal tubulopathy
- Elevated circulating creatine kinase activity
- Elevated circulating aspartate aminotransferase concentration
- Aminoaciduria