Significats de xlh en anglès

XLH patients are more likely to have elevated intact FGF23 than C-terminal FGF23.

In this study, we sequenced the PHEX gene in subjects from 26 kindreds who were clinically diagnosed with XLH.

Our data, in accord with those of others, indicate that there is no single predominant PHEX mutation responsible for XLH.

Normal serum klotho levels were associated with normal FGF23 biologic activity in all XLH patients and a minority of ADPKD patients.

Using a conceptual approach, we suggest that a defect in the skeletal response to parathyroid hormone contributes to hyperparathyroidism in XLH.

Methods: Subjects included 25 untreated outpatients with XLH at a tertiary medical center and 158 healthy adult controls.

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.

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.

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.