XLH patients are more likely to have elevated intact FGF23 than C-terminal FGF23.
2
In this study, we sequenced the PHEX gene in subjects from 26 kindreds who were clinically diagnosed with XLH.
3
Our data, in accord with those of others, indicate that there is no single predominant PHEX mutation responsible for XLH.
4
Normal serum klotho levels were associated with normal FGF23 biologic activity in all XLH patients and a minority of ADPKD patients.
5
Using a conceptual approach, we suggest that a defect in the skeletal response to parathyroid hormone contributes to hyperparathyroidism in XLH.
6
Methods: Subjects included 25 untreated outpatients with XLH at a tertiary medical center and 158 healthy adult controls.
7
These lines of evidence suggested that the pathogenesis of osteomalacia in HHRH was different from XLH in terms of the utility of phosphate in osteoblasts.
8
The relationships of iron to FGF23 in XLH suggest that altered regulation of FGF23 cleaving may contribute to maintaining hypophosphatemia around an abnormal set-point.
9
We hypothesized that in XLH serum iron would inversely correlate to C-terminal FGF23, but not to intact FGF23, mirroring the relationships in normal controls.