Table 1.

Clinicobiochemical phenotype of MSK patients positive or negative for GDNF variants

ParametersGDNF Variant +GDNF Variant −
24-hour urine
    pH (fasting, morning sample)5.92 ± 0.275.61 ± 0.67
    potassium (mEq)58.22 ± 18.78a61.64 ± 23.00
    calcium (mg)315.00 ± 38.42a184.90 ± 54.38
    phosphate (mg)920.73 ± 59.12810.87 ± 68.38
    citrate (mg)238.44 ± 77.05a331.90 ± 81.44
Blood
    calcium (mg/dl)9.23 ± 0.499.63 ± 0.46
    phosphorus (mg/dl)3.08 ± 0.653.23 ± 0.58
    potassium (mEq/L)3.50 ± 0.413.92 ± 0.55
    chloride (mEq/L)105.8 ± 2.89104.6 ± 3.44
Bone serum alkaline phosphatase (IU/L)23.92 ± 5.3930.30 ± 6.03
Total vertebral (L1 to L4) T-score−2.04 ± 0.20a−1.13 ± 0.26
  • a Statistically significant differences versus GDNF variant-negative values.