Table 3.
Studies evaluating bone health, vitamin D status, and hypovitaminosis D treatment in GD1 patients.
|
First
Author |
Year | Cnt | Lat | n | M | F | Mean age (years) | GD1T | HypoD N(%) | HypoD-T | Ca-I (g/d) | BMD | Op N(%) | BA N(%) | PTH | BTM | Meno | FU (years) |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Schiffmann | 2002 | USA | 42.36 | 29 | 16 | 13 | 36.4 ± 8.2 | ERT | 0 (0)a | n.a.b | 0.6/1.0b | QCT | n.a.c | n.a. | Yesa | n.a. | n.a. | 2 |
| Ciana | 2005 | Ita | 45.63 | 12 | 6 | 6 | 30.9 ± 5.5 | ERT | n.a. | n.a.d | n.a. | DXA | n.a | HS 1: (58.4)e HS 2: (33.3)e HS 3: (8.3)e |
Yes | BF, BR | n.a. | 4.5 |
| Parisi | 2008 | Arg | -34.60 | 9 | 4 | 5 | 26.9 ± 6.9 | ERT | 9 (100) | n.a. | n.a. | TB-DXA | n.a | n.a. | n.a. | BF, BR | n.a. | n.a. |
| Mikosch | 2009 | Eng | 51.50 | 60 | 34 | 26 | 47.6 ± 17.8 | ERT | 44 (73.7)f | n.a. | n.a. | DXAg | n.a. | n.a. | Yes | n.a. | n.a. | n.a. |
| Zimmermann | 2018 | Rom | 46.77 | 50 | 19 | 31 | 40 (26-51) | ERT | n.a.h | n.a.i | n.a. | DXA | 13 (34)j | FF: 9 (28) BC: 3 (8) ON: 9 (28) |
Yes | BF, BR | n.a. | n.a. |
| Barbato | 2023 | Ita | 40.85 | 25 | 9 | 16 | 45.0 ± 13.5 | ERT | 25 (100) | Chol | 1.0k | DXA | 7 (28) | FF: 2 (8) EFD: 4 (20) ON: 2(8) |
Yes | BF, BR | Yes | 2 |
Year: publication year. Cnt: Country. Lat: latitude. USA: United States of America. Ita: Italy. Arg: Argentina. Eng: England. Rom: Romania. Latitude: Latitude of city in which the study was performed. N: number of GD1 patients enrolled in the study. M: men. F: women. Mean age: mean of GD1 patients at enrolment. Data are expressed as mean ± standard deviation or median (quartiles otherwise) according to data provided by authors. GD1T: Therapy for GD1.
All enrolled GD1 patients showed normal values of 25OHD, 1,25(OH)2D and PTH at enrolment.
GD1 patients were randomized in 3 groups (1, 2, 3). Groups 1 received Calcitriol (0.25-3.0 g/day) and calcium (0.6 g/d) during months 1-6 and calcitriol, calcium and ERT during months 7-24; Groups 2 received Calcitriol (0.25–3.0 mg/day), calcium (0.6 g/d) and ERT during months 1-24; Group 3 received calcium (1.0 g/d) and ERT during months 1-24.
GD1 patients with QCT ≤ 100 mg/cm3 were excluded from the study.
Calcitriol treatment (0.25-0.50 μg/day) was administered before ERT treatment to all GD1 patients.
Evaluated using modified Hermann score (HS).
Hypovitaminosis D is defined as 25OHD serum levels < 80 nmol/L.
BMD was assessed by DXA in 38 GD1 patients.
25OHD serum levels were measured [24.6 (18.8; 28.3) ng/mL], no data were available regarding prevalence of hypovitaminosis D.
GD1 patients treated with vitamin D supplementation were excluded from the study.
Osteoporosis was diagnosed with Z score < –2.5. No post-menopausal status was assessed.
A normocalcic (calcium intake ≥ 1 g/day), normocaloric (1800 kcal) and hyposodic (sodium intake ≤ 5 g/day) diet, also called bone diet, was prescribed to all GD1 patients at study enrolment. The adherence to diet was assed monitoring 24 h urinary sodium excretion.
Abbreviations: BA, Bone anomalies [Fractures (FF), Enlenmeyer flask deformity (EFD), bone crises (BC), osteonecrosis (ON), and acute osteomyelitis(aOM)] prevalence; BF, bone formation; BMD, methodology used for BMD assessment; BR, bone resorption; BTM, bone turnover markers; Ca-I, assessment of calcium dietary intake expressed as grams/day; Chol, cholecalciferol; DXA, Dual Energy X-ray Absorptiometry; ERT, Enzyme replacement therapy; FU, follow up; HypoD, prevalence of vitamin D deficiency; HypoD-T, vitamin D deficiency treatment; Meno, menopause assessment; n.a., data not available; Op, Osteoporosis prevalence (using BMD Z-score); QCT: quantitative computed tomography; TB-DXA, Total body Dual Energy X-ray Absorptiometry.