Conditions / Genetic
X-linked hypophosphatemic rickets
info · Genetic
A rickets that has_material_basis_in X-linked mutations in the PHEX gene that lead to increased circulating levels of FGF-23, a phosphate-regulating hormone (phosphatonin), that leads to reduced renal phosphate reabsorption and consequently abnormal bone miner
A rickets that has_material_basis_in X-linked mutations in the PHEX gene that lead to increased circulating levels of FGF-23, a phosphate-regulating hormone (phosphatonin), that leads to reduced renal phosphate reabsorption and consequently abnormal bone mineralization.
Signs and symptoms
- Tibial bowing
- Femoral bowing
- Elevated circulating alkaline phosphatase concentration
- Bowing of the legs
- Waddling gait
- Genu valgum
- Hypophosphatemic rickets
- Rachitic rosary
- Delayed ability to walk
- Cupped metaphyses of hand bones
Medications that may treat it
burosumab calcifediol cholecalciferol
Also known as: Hypophosphatemia, Vitamin D-Resistant Rickets; Vitamin D-Resistant Rickets, X-Linked; X-linked dominant hypophosphatemic rickets; X-linked hypophosphatemia; hypophosphatemic rickets X-linked dominant