Conditions / Genetic
hereditary hypophosphatemic rickets with hypercalciuria
info · Genetic
A rickets that has_material_basis_in increased serum 1,25-dihydroxyvitamin D levels and increased intestinal calcium absorption and is characterized by the presence of hypophosphatemia secondary to renal phosphate wasting, radiographic and/or histologic eviden
A rickets that has_material_basis_in increased serum 1,25-dihydroxyvitamin D levels and increased intestinal calcium absorption and is characterized by the presence of hypophosphatemia secondary to renal phosphate wasting, radiographic and/or histologic evidence of rickets, limb deformities, muscle weakness, and bone pain.
Signs and symptoms
- Elevated circulating alkaline phosphatase concentration
- Renal phosphate wasting
- Hypophosphatemic rickets
- Hypercalciuria
- Hypophosphatemia
- Elevated circulating calcitriol concentration
- Decreased circulating parathyroid hormone level
- Delayed epiphyseal ossification
- Tibial bowing
- Difficulty standing