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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 populationMain findings
Bembi et al., 1994 [11]12 GD1 and GD3 patients, including 9 children, assessed before and after at least 12 months of ERTA 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 SRT83.0% 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 ERTHypovitaminosis D (25(OH) D levels < 75 nmol/L) in 100% patients.
Schiffmann et al., 2002 [91]29 splenectomised GD patientsNo 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 patientsThe AA genotype (c.1024 + 283G > A gene variant; VDR gene) - a risk factor for low BMD, osteoporosis and pathological fractures.
  1. BMD bone mineral density; ERT enzyme replacement therapy; GD1 Gaucher disease type 1; SRT substrate reduction therapy; VDR vitamin D receptor