A Novel PHEX Mutation in Japanese Patients with X-Linked Hypophosphatemic Rickets

Table 1

Laboratory data of the patient, her father, and her mother.

		Patient	Father	Mother
P	(3.0–4.5 mg/dL)	2.0	2.9	3.8
Ca	(8.7–10.2 mg/dL)	9.2	9.4	9.5
ALP	(100–325 IU/L)	2347	1085	320
Intact PTH	(12–72 pg/mL)	68.5	60.8	55.1
25-(OH)D3	(9.7–41.7 ng/mL)	11.0	14.5	22.6
1,25-(OH)2D3	(20–60 pg/mL)	37.5	24.1	54.0
FGF23	(10–50 pg/mL)	400	68	29
TmP/GFR	(2.5–4.5 mg/dL)	2.1	2.8	4.4
Urine Ca/Cre ratio	(0.05–0.25)	0.09	0.08	0.11

Values within parentheses are the normal ranges of the variant.
P, phosphate; Ca, calcium; ALP, alkaline phosphatase; intact PTH, intact parathyroid hormone; 25-(OH)D₃, 25-hydroxyvitamin D₃; 1,25-dihydroxyvitamin D₃, 1,25-(OH)₂D₃; FGF23, fibroblast growth factor 23; TmP/GFR, tubular maximum phosphate reabsorption per glomerular filtration rate; urine Ca/Cre ratio, urine calcium/creatinine ratio.