Table 1. Laboratory data of the patient and her parents .
|
Biochemical parameters |
10-year-old (age at presentation) |
13-year-old |
16-year-old |
Mother |
Father |
Reference range |
|
Serum |
- |
- |
- |
- |
- |
- |
|
Calcium (mg/dL) |
9.22 |
9.15 |
8.68 |
8.99 |
8.86 |
8.5-10.1 |
|
Phosphorous (mg/dL) |
3.41 (3.2-5.7) |
2.61 (2.9-5.1) |
2.53 (2.7-4.9) |
3.01 (2.5-5.1) |
2.87 (2.5-5.1) |
a |
|
25(OH)D (ng/mL) |
29.54 |
27.0 |
21.84 |
24.51 |
19.3 |
>20 |
|
PTH (pg/mL) |
16.1 |
12.92 |
20.1 |
52.62 |
49.35 |
15-65 |
|
ALP (U/L) |
486 (51-332) |
249 (50-162) |
157 (47-119) |
56 (42-98) |
64 (53-128) |
a |
|
CTX (ng/mL) |
- |
2.61 (0.144 1.202) |
1.07 (0.048-0.579) |
0.429 (0.025-0.573) |
0.868 (0.016-0.584) |
a |
|
Creatinine (mg/dL) |
0.76 |
0.62 |
0.68 |
0.71 |
0.96 |
0.46-0.81 >18 y: 0.70-1.30 |
|
eGFR |
120 |
136 |
129 |
122 |
104 |
>90 |
|
Urine |
- |
- |
- |
- |
- |
- |
|
Calcium/creatinine (mg/mg) |
0.407 |
0.333 |
- |
0.108 |
0.102 |
<0.200 |
|
Urine calcium excretion |
- |
8.2 mg/kg/d |
3.4 mg/kg/d |
115 mg/d |
118 mg/d |
Child <4 mg/kg/d Adult Female <250 mg/d Male <300 mg/d |
|
TRP (%) |
- |
84 |
82 |
- |
- |
>85 |
|
TmP/GFR (mg/dL) |
- |
2.19 (2.9-6.5) |
2.07 (2.9-6.5) |
- |
- |
a |
Laboratory data were obtained after fasting overnight.
aReference ranges according to age and sex are given in parenthesis following the results; Urinary calcium/creatinine: analyzed in spot urine.
TRP: tubular resorption of phosphate, TmP/GFR: ratio of the maximal renal phosphate reabsorption to glomerular filtration rate, 25(OH)D: 25 hydroxyvitamin D, PTH: parathyroid hormone, ALP: alkaline phosphatase, CTX: C-telopeptide of type 1 collagen, eGFR: estimation of glomerular filtration rate according to the CKD-EPI equation, Dashes: data not available, y: year