Table 2.

Biochemical Analyses

	Proband I-1	Proband I-1	I-2	II-1	II-2
Feature	At presentation	After phosphate treatment	Baseline	Baseline	Baseline
Age, years	54	55	48	21	19
Calcium (8.5 to 10.5 mg/dL)	8.9	9.3	9.3	9.1	9.9
Phosphorus (2.5 – 4.5 mg/dL)	1.7	4.4	4.1	3.8	4.5
1,25(OH)2 D (21 ng/mL to 65 ng/mL)	188.2	63.2	74	57	62
25(OH) D (20–100 ng/mL)	35	43	28	14	11
iPTH (10–65 pg/mL)	18	54	27	34	25
Creatinine (0.5 to 1.0 mg/dL)	1.1		0.6	0.5	0.6
Alkaline Phosphatase (39 – 117 IU/L)	111		54	65	61
24 hour urine calcium	864	402	89	151	80
Urine ca/cr ratio (<0.21 mg2/mg2)	0.64	0.25	0.15	0.15	0.18
TRP (> 90%)	60%		94%	91%	93%
TmP/GFR (Male 45–55 yrs, 0.9–1.35 mmol/L; Female 45–55 yrs, 0.88–1.44; young females 0.96– 1.5)	0.33		1.5	1.2	1.5
Genotype	R67H/G191S		R67H/WT	R67H/WT	R67H/G191S