Conditions / Urinary
Dent disease 1
info · Urinary
A Dent disease that is characterized by manifestations of complex proximal tubule dysfunction with low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and progressive renal failure and that has_material_basis_in mutation in the
A Dent disease that is characterized by manifestations of complex proximal tubule dysfunction with low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and progressive renal failure and that has_material_basis_in mutation in the CLCN5 gene on chromosome Xp11. Extra-renal involvement is absent.
Signs and symptoms
- Hypercalciuria
- Delayed epiphyseal ossification
- Tibial bowing
- Bulging epiphyses
- Femoral bowing
- Aminoaciduria
- Short stature
- Renal insufficiency
- Glycosuria
- Chronic kidney disease