Hereditary Hypophosphatemic Rickets with Hypercalciuria (HHRH) Presenting with Genu Valgum Deformity: Treatment with Phosphate Supplementation and Surgical Correction

Table 1

Laboratory values.

Lab test (reference value)	At presentation	After 6 months of phosphorus supplementation
Phosphorus (2.3–4.7 mg/dL)	1.7	2.5
Calcium (8.5–10.5 mg/dL)	9.6	8.9
Creatinine (0.57–1.11 mg/dL)	0.82	0.83
Total vitamin D (25–80 ng/mL)	85	56
1,25-Dihydroxy vitamin D (19.9–79.3 pg/mL)	154	126
FGF23 (≤180)	<50	—
Bone-specific alkaline phosphate (premenopausal female: 4.5–16.9 μg/L)	12.1	12.7
Parathyroid hormone (16–77 pg/mL)	9	16
Urine phosphorus (400–1,300 mg/24 hr)	777	—
Urine calcium (100–300 mg/24 hr)	155	—

In patients with hypophosphatemia, urinary phosphate excretion above 100 mg/day or a fractional excretion, F_EPO₄, above 5 percent is indicative of renal phosphate wasting.