Clinical and Biochemical Features in a Case of Familial Hypocalciuric Hypercalcemia Type 3 with AP2S1 Gene Mutation in Codon Arg15His

Table 1

Summary of biochemical results.

	Patient (9 months)	Mother (34 years)
25-hydroxyvitamin D	23.3 ng/ml (normal)	5.2 ng/ml (low)
Calcium	11.2 mg/dl–10.9 mg/dl (8.8 mg/dl–10.8 mg/dl) (high)	10.6 mg/dl (8.9 mg/dl–10.2 mg/dl) (high)
Phosphate	4.9 mg/dl (4.9 mg/dl–7.9 mg/dl) (normal)	2.6 mg/dl (2.7 mg/dl–4.5 mg/dl) (low normal)
Magnesium	2.50 mg/dl (1.7 mg/dl–2.4 mg/dl) (high normal)	2.44 mg/dl (1.7 mg/dl–2.55 mg/dl)
ALP	313 u/l (<281) (high)	54 u/l (35–104)
PTH	8.6 pg/ml (6.2–29.0) (normal)	10 pg/ml (normal)
Calcium, random urine	3.7 mg/dl	17.2 mg/dl
Creatinine, random urine	17.4 mg/dl	304.4 mg/dl
Urinary calcium/creatinine ratio	0.21 mg/mg (low)	0.05 mg/mg (low)

ALP, alkaline phosphatase; PTH, parathyroid hormone.