FGF23 Concentrations Vary With Disease Status in Autosomal Dominant Hypophosphatemic Rickets

Autosomal dominant hypophosphatemic rickets is linked to chromosome 12p13.

Autosomal dominant hypophosphatemic rickets (ADHR) is an inherited disorder of isolated renal phosphate wasting, the pathogenesis of which is unknown. We performed a genome-wide linkage study in a large kindred to determine the chromosome location of the ADHR gene. Two-point LOD scores indicate that the gene is linked to the markers D12S314 [Z(theta) = 3.15 at theta = 0.0], vWf [Z(theta) = 5.32...

Iron deficiency drives an autosomal dominant hypophosphatemic rickets (ADHR) phenotype in fibroblast growth factor-23 (Fgf23) knock-in mice.

Autosomal dominant hypophosphatemic rickets (ADHR) is unique among the disorders involving Fibroblast growth factor 23 (FGF23) because individuals with R176Q/W and R179Q/W mutations in the FGF23 (176)RXXR(179)/S(180) proteolytic cleavage motif can cycle from unaffected status to delayed onset of disease. This onset may occur in physiological states associated with iron deficiency, including pub...

Characterization of native FGF23 protein and mutant forms causing autosomal dominant hypophosphatemic rickets and familial tumoral calcinosis

Hip fracture leading to the diagnosis of autosomal dominant hypophosphatemic rickets. A case report.

A 38 year-old Caucasian female (weight: 67 Kg, height: 163 cm) was referred to our department after surgical treatment of a non-healing hip fracture, due to severe hypophosphatemia. During the previous ten months she suffered from worsening generalized bone pain, especially at the left hip, and proximal muscle weakness. There was no history of trauma. Past history revealed two distinct episodes...

Hypophosphatemic rickets with hypercalciuria.