Case Reports in Pediatrics / 2020 / Article / Tab 1

Case Report

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 D23.3 ng/ml (normal)5.2 ng/ml (low)
Calcium11.2 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)
Phosphate4.9 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)
Magnesium2.50 mg/dl (1.7 mg/dl–2.4 mg/dl) (high normal)2.44 mg/dl (1.7 mg/dl–2.55 mg/dl)
ALP313 u/l (<281) (high)54 u/l (35–104)
PTH8.6 pg/ml (6.2–29.0) (normal)10 pg/ml (normal)
Calcium, random urine3.7 mg/dl17.2 mg/dl
Creatinine, random urine17.4 mg/dl304.4 mg/dl
Urinary calcium/creatinine ratio0.21 mg/mg (low)0.05 mg/mg (low)

ALP, alkaline phosphatase; PTH, parathyroid hormone.

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