Clinical feature: 

Definition: The diseases of this group are characterized by renal phosphate wasting. Skeletal abnormalities develop secondarily.

Pathogenesis: The disease results from distinct renotubular transport and/or signaling defects

Diagnostics: 

Strategy: Diagnostic starts with affirmation of renal phosphate wasting, the exclusion of secondary hypophosphatemias, the assessment of family history and than proceeds towards differentiation of the form of genetic disorder.

Literature: 

Shimada T et al. (2001) Cloning and characterization of FGF23 as a causative factor of tumor-induced osteomalacia.
Strewler GJ et al. (2001) FGF23, hypophosphatemia, and rickets: has phosphatonin been found?
Tenenhouse HS et al. (2002) Novel phosphate-regulating genes in the pathogenesis of renal phosphate wasting disorders.
et al. (2000) Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23.
Econs MJ et al. (1997) Autosomal dominant hypophosphatemic rickets/osteomalacia: clinical characterization of a novel renal phosphate-wasting disorder.
Scriver CR et al. (1977) Hypophosphatemic nonrachitic bone disease: an entity distinct from X-linked hypophosphatemia in the renal defect, bone involvement, and inheritance.
Scriver CR et al. (1981) Autosomal hypophosphataemic bone disease responds to 1,25-(OH)2D3.