Article
[Hereditary hypophosphatemia in adults].
Presse medicale (Paris, France : 1983) - 17 Dec 2005
Vélayoudom-Céphise F-L, Vantyghem M-C, Wémeau J-L
Abstract excerpt
Hereditary hypophosphatemic rickets groups together X-linked hypophosphatemic rickets (XLH), autosomal dominant hypophosphatemic rickets (ADHR) and hereditary hypophosphatemic rickets with hypercalciuria (HHRH, autosomal recessive). Clinical and biological characteristics and treatment depend on specific etiology. Mutations causing hereditary hypophosphatemic rickets involve PHEX located on Xp11.22 for XLH and...
Topics
- Adult
- Diagnosis, Differential
- Fibroblast Growth Factor-23
- Humans
- Hypophosphatemia, Familial
- Mutation
