Table 7 Calcium homeostasis and vitamin D in adult and paediatric GD patients
From: Endocrine and metabolic disorders in patients with Gaucher disease type 1: a review
Author (year) | Study population | Main findings |
|---|---|---|
Bembi et al., 1994 [11] | 12 GD1 and GD3 patients, including 9 children, assessed before and after at least 12 months of ERT | A temporary hypocalcaemia 10–12 days after the start of the treatment in 33% patients. |
Mikosch et al., 2009 [87] | 60 GD1 adult patients, most on ERT or SRT | 83.0% of patients with insufficient vitamin D level (≤80 nmol/L). 17.0%, of patients with sufficient vitamin D level (> 80 nmol/L). Presence of a significant seasonal variation of 25(OH) D values A significant correlation between the 25(OH) D level during the season December–May and T-scores and Z-scores of the lumbar spine and hip |
Parisi et al., 2008 [89] | 9 GD1 young adult patients on ERT | Hypovitaminosis D (25(OH) D levels < 75 nmol/L) in 100% patients. |
Schiffmann et al., 2002 [91] | 29 splenectomised GD patients | No significant effect of small doses of calcitriol (1,25-dihydroxyvitamin D3; 0.25–3.0 μg/day) alongside ERT on the improvement of bone density . |
Zimmermann et al., 2018 [98] | 50 adult GD1 patients | The AA genotype (c.1024 + 283G > A gene variant; VDR gene) - a risk factor for low BMD, osteoporosis and pathological fractures. |