Hereditary hypophosphatemic rickets (including X-linked hypophosphatemia)
X-linked hypophosphatemia, the most common form, affects about 1 in 20,000 people.
Inherited disorders of phosphate handling, most often caused by PHEX variants (X-linked hypophosphatemia) and less often by FGF23, DMP1, ENPP1 or SLC34A3, that lead to low blood phosphate and rickets.
Co se diagnózou změní
Treatment with oral phosphate and active vitamin D, or with the anti-FGF23 antibody burosumab, can improve bone health and growth.
Zahrnuje 8 příbuzných podtypů ↓Skrýt podtypy ↑
- autosomal dominant hypophosphatemic rickets
- autosomal recessive hypophosphatemic rickets
- hereditary hypophosphatemic rickets with hypercalciuria
- hypophosphatemic rickets, autosomal recessive, 1
- hypophosphatemic rickets, autosomal recessive, 2
- hypophosphatemic rickets, X-linked recessive
- X-linked dominant hypophosphatemic rickets
- X-linked hypophosphatemic rickets
