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Table 1 Initial/final significant findings in the family

From: Genetic and clinical peculiarities in a new family with hereditary hypophosphatemic rickets with hypercalciuria: a case report

  Patient Mother Father Brother
Age at diagnosis (years) 11 33 41 1
Serum alkaline phosphatase (Times above the upper limit of normal reference values) 4.0/2.0 0.6/1.1 2.5/1.5 1.5/3.5
Serum calcium (mg/dl) (Normal reference values: 8.5-10.5) 10.5/9.8 9.46/9.84 10.0/8.8 10.6/10.3
Serum phosphate (mg/dl) 3.2/2.3 2.6/4.3 4.2/2.8 5.3/5.0
Urine calcium/creatinine (mg/mg) (Normal reference values: <0.20) 0.45/0.21 0.33/0.27 0.17/0.04 0.52/0.34
Urine calcium (mg/kg/day) (Normal reference values: < 4.0) 9/5 6.4/NA 4.5/NA 5.5-6.2
Urine phosphate (mg/kg/day) (Normal reference values: 12.4 ± 4.6) 28.0/16.9 12.5/NA 16.1/NA 28.0/NA
Tubular reabsorption of phosphate (%) (Normal reference values: 75-85) 63.8/74.4 79.0/90.5 77.8/NA 78.1/89.9
TmP/GFR (mg/dl) (Normal reference values: 2.5-4.2) 2.1/1.8 2.1/4.2 3.3/NA 4.1/4.9
Serum intact PTH (pg/ml) (Normal reference values:10-65) 9/22 62/27 38/41 13/13
Serum 25 hydroxivitamin D (ng/ml) (Normal reference values: 10-68) 16/18 18/20.4 41/24.2 29/29
1,25 dihydroxyvitamin D (pg/ml) (Normal reference values: 20-63) 109/96 83/80 37/38 71/64
eGFR (ml/min/1.73 m2) 104/109 83/107 84/101 144/159
  1. Normal values for serum phosphorus: < 14 years: 3.5-6.5 mg/dl; Adults: 2.7-4.5 mg/dl. TmP/GFR values were calculated by the Walton Bijvoen nomogram. [16]. eGFR: Estimated glomerular flow rate based on Cockroft-Gault formula for adults and Schwartz formula for children. NA: not available.