Table 1.

Patients’ Characteristics at Diagnosis of XLHR and Treatment Initiation

	At diagnosis	n
Boys/girls	15/29	44
Familial/de novo	31/13	44
PHEX mutation (yes/no)
All	36/8	44
Familial	25/6	31
De novo	11/2	13
ALP (IU/L), mean ± SD (min to max)	560 ± 176 (291 to 1044)	35
Serum phosphate (mmol/L), mean ± SD (min to max)	0.87 ± 0.18 (0.53 to 1.42)	38
Age (years), mean ± SD (min to max)
All	2.4 ± 2.1 (0.2 to 10.2)	44
Familial	2.2 ± 2.3 (0.2 to 10.2)	31
De novo	3.1 ± 1.4 (1.5 to 6.3)	13
Height (Z‐score), mean ± SD (min to max)	–1.13 ± 1.25 (–3.6 to 2)	44

XLHR = X‐linked hypophosphatemic rickets; ALP = alkaline phosphatase.