Table 2.
Clinical and biochemical parameters evaluated in patients with Gaucher disease type 1 at the enrolment and after 24 months.
| T0 | T24 | Control | |||||
|---|---|---|---|---|---|---|---|
| All (n = 25) | Z score ≤ –2 (n = 7) | Z score > –2 (n = 18) | All (n = 25) | Z score ≤ –2 (n = 7) | Z score > –2 (n = 18) | Values c | |
| BMI (kg/m2) | 25.4 ± 3.1 | 24.8 ± 5.1 | 25.6 ± 4.2 | 27.0 ± 4.9 | 25.2 ± 4.3 | 27.7 ± 5.2 | 25.7 ± 3.6 |
| CHT (nmol/mL/h) | 276.0 (211.3–421.0) | 255.5 (110.0–345.0) | 286 (229.0–451.5) | 164.0 (122.0–334.0) | 210.0 (63.75–315.0) | 164.0 (123.5–290.5) | |
| Calcium (mmol/L) | 2.39 ± 0.02 | 2.40 ± 0.03 | 2.39 ± 0.02 | 2.40 ± 0.03 | 2.45 ± 0.02 | 2.38 ± 0.03 | 2.40 ± 0.02 |
| Phosphate (mmol/L) | 0.97 ± 0.15 | 0.99 ± 0.16 | 0.97 ± 0.15 | 1.01 ± 0.16 | 0.99 ± 0.17 | 1.01 ± 0.15 | 0.99 ± 0.16 |
| Creatinine (μmol/L) | 69.9 ± 10.6 | 70.7 ± 10.7 | 69.6 ± 10.1 | 72.7 ± 10. 5 | 74.9 ± 11.3 | 71.8 ± 9.8 | 70.1 ± 10.2 |
| Hb (mmol/L) | 9.22 ± 0.91 | 9.22 ± 1.02 | 9.21 ± 0.87 | 9.11 ± 0.92 | 9.05 ± 0.97 | 9.13 ± 0.86 | 9.17 ± 0.89 |
| PLT (109/L) | 225.9 ± 53.8 | 207.8 ± 62.6 | 232.9 ± 57.6 | 179.5 ± 64.8 | 185.5 ± 63.0 | 177.2 ± 67.8 | 238.8 ± 58.7 |
| Ferritin (μg/L) | 154.0 (60.3–468.8) | 347.5 (42.75–542.25) | 154.0 (66.0–435.0) | 187.0 (77.0–313.5) | 432.5 (50.25–662.25) | 187.0 (87.0–263.0) | 128.7 ± 87.6 |
| Liver volume (MN) | 0.4 ± 0.1 | 0.4 ± 0.2 | 0.39 ± 0.1 | 0.3 ± 0.1 | 0.4 ± 0.1 | 0.3 ± 0.1 | |
| Splenic volume (MN)d | 3.2 ± 0.5 | 2.9 ± 0.6 | 3.3 ± 0.3 | 3.0 ± 0.5 | 3.2 ± 0.3 | 3.0 ± 0.6 | |
| Femur BMD (g/cm2) | 0.81 ± 0.17 | 0.80 ± 0.21 | 0.81 ± 0.16 | 0.82 ± 0.17 | 0.81 ± 0.19 | 0.82 ± 0.15 | |
| Femur Z-score | –0.29 ± 1.11 | –0.30 ± 1.19 | –0.29 ± 1.09 | –0.46 ± 1.07 | –0.38 ± 1.17 | –0.49 ± 1.01 | |
| Femur T-score | –0.80 ± 1.26 | –0.78 ± 1.31 | –0.81 ± 1.25 | –0.87 ± 1.23 | –0.77 ± 1.30 | –0.91 ± 1.21 | |
| Lumbar BMD (g/cm2) | 0.96 ± 0.17 | 0.98 ± 0.19 | 0.95 ± 0.16 | 0.95 ± 0.19 | 0.98 ± 0.20 | 0.94 ± 0.18 | |
| Lumbar Z-score | –0.25 ± 1.33 | –0.32 ± 1.38 | –0.22 ± 1.32 | –0.43 ± 1.38 | –0.35 ± 1.39 | –0.46 ± 1.31 | |
| Lumbar T-score | –0.92 ± 1.50 | –0.96 ± 1.52 | –0.90 ± 1.48 | –0.99 ± 1.48 | –0.96 ± 1.50 | –1.00 ± 1.47 | |
| tALP (U/L) | 75.9 ± 21.7 | 87.5 ± 10.8 | 71.4 ± 22.1 | 81.8 ± 21.2 | 92.5 ± 18.7 | 77.6 ± 22.9 | 78.8 ± 16.5 |
| bALP (μg/L) | 16.6 ± 10.5 | 13.4 ± 10.7 | 17.8 ± 10.5 | 16.6 ± 9.4 | 19.4 ± 9.3 | 15.5 ± 10.6 | 15.3 ± 9.8 |
| CTX (ng/mL) | 0.29 ± 0.22 | 0.58 ± 0.18b | 0.18 ± 0.22 | 0.26 ± 0.12 | 0.39 ± 0.15 | 0.21 ± 0.11 | 0.25 ± 0.12 |
| P1NP (ng/mL) | 57.7 ± 23.2 | 52.6 ± 27.2 | 59.7 ± 23.1 | 59.1 ± 23.5 | 59.9 ± 25.1 | 58.8 ± 19.2 | 50.3 ± 18.3 |
| PTH (pmol/L) | 5.4 ± 1.2a | 5.6 ± 1.3a | 5.3 ± 1.1a | 3.9 ± 1.0 | 3.7 ± 1.1 | 4.0 ± 1.0 | 3.6 ± 1.0 |
| 1,25(OH)2D (pmol/L) | 130.2 ± 55.9 | 138.6 ± 60.1 | 126.9 ± 55.1 | 139.5 ± 46.8 | 138.7 ± 59.9 | 139.8 ± 15.6 | 124.6 ± 42.2 |
| 25(OH)D (nmol/L) | 44.0 ± 14.6a | 42.8 ± 13.8a | 44.5 ± 14.6a | 85.2 ± 15.0 | 86.1 ± 16.4 | 84.9 ± 14.8 | 75.2 ± 19.7 |
Data are expressed as media ± standard deviation for continuous variables with normal distribution at Kolmogorov–Smirnov test and median (25°-75°) for continuous variables with not-normal distribution at Kolmogorov–Smirnov test. T0: data at enrolment. T24: data 24 months after the integrated therapy with (1) enzyme replacement therapy, (2) normocalcic, normocaloric, and hyposodic diet, and (3) cholecalciferol.
Significantly different compared to controls (P < 0.05, ANOVA).
Significantly different compared to GD1 patients with Z score > –2 (P < 0.05, ANOVA).
Control values measured in 2 healthy control subjects age-, BMI-, and sex-matched for each enrolled patient with Gaucher type 1 disease.
Four patients with Z-score > –2 were splenectomised.
Abbreviations: 1,25(OH)2D, 1-25 dyhydroxyvitamin D; 25(OH)D, 25 Hydroxyvitamin D; bALP, bone isoenzyme of alkaline phosphatase; BMD, bone mineral density; BMI, body mass index; Calcium, total calcium corrected for albumin; CHT, chitothriosidase; CTX, C-terminal telopeptide of type I collagen; MN, multiples of normal volumes for spleen (0.2% of body weight) and liver (2.5% of body weight); P1PNP, total procollagen type 1 N-terminal propeptide; tALP, total alkaline phosphatase.