Table 1.
Biochemical data (normal range) |
I-1 | I-2 | II-1 | Case 4 | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
baseline | 1 year | baseline | 1 year | 2 years | 3 years | baseline | 2 months | 1 year | baseline | 1 year | 2 years | |
S-Ca(total) (mmol/L) 2.20 to 2.60 |
3.01 | 2.74 | 3.05 | 2.58 | 2.71 | 2.71 | 3.02 | 2.51 | NA | 3.13 | 2.86 | 2.87 |
B-Ca++ (mmol/L) 1.18 to 1.32 |
1.61 | 1.43 | 1.59 | 1.46 | 1.44 | 1.43 | 1.54 | 1.36 | 1.26 | 1.81 | NA | 1.47 |
S-PTH (pmol/L) 1.6 to 6.9 |
7.3 | 7.4 | 7.1 | 4.4 | 3.3 | 1.9 | 3.5 | 6.2 | 2.9 | 9.0 | 8.7 | 8.3 |
S-phosphate (mmol/L) 0.76 to 1.41 |
0.70 | 0.84 | 0.83 | 0.93 | 1.00 | NA | 0.76 | 0.98 | NA | 0.96 | 0.93 | 0.79 |
S-Mg++ (mmol/L) 0.71 to 94 |
0.96 | 0.94 | 1.12 | 1.00 | 0.97 | 0.97 | 0.97 | 0.95 | NA | 0.99 | 0.94 | 0.94 |
S-creatinine (μmol/L) 50 to 90 |
55 | 55 | 59 | 52 | 57 | NA | 49 | NA | NA | 65 | 63 | 60 |
S-alkaline phosphatase (U/L) 35 to 105 |
124 | 142 | 89 | 105 | 94 | NA | 67 | NA | NA | 76 | 71 | 70 |
S-25(OH)-vitamin D (nmol/L) 50 to 178 |
38 | NA | NA | NA | NA | NA | 85 | NA | NA | 31 | NA | NA |
BMD | ||||||||||||
T-score spine (L1-L4) | -3.6 | -3.7 | -3.1 | -3.0 | -3.1 | -3.0 | -0.1 | NA | NA | -0.4 | NA | -0.7 |
T-score hip | -3.0 | -3.0 | -2.2 | -2.0 | -2.0 | -2.0 | 1.5 | NA | NA | 0.3 | NA | 0.0 |
I-1, I-2 and II-1 have an R > W substitution in codon 220 and Case 4 has a G > R substitution in codon 613. Data in bold are outside of the reference range. NA: not analyzed.