Table 1 Studies assessing nutritional status disorders in adult and paediatric GD1 patients
From: Endocrine and metabolic disorders in patients with Gaucher disease type 1: a review
Author (year) | Study population | Main findings | ||
|---|---|---|---|---|
Barton et al., 1989 [19] | 25 untreated GD1 patients, both children and adults | REEa 44% higher than estimated REE | ||
Corssmit et al., 1995 [18] | 7 untreated, adult GD1 patients | REEa 24% greater than in age-, sex- and weight-matched healthy subjects | ||
Doneda et al., 2011 [21] | 14 GD1 patients (12 on ERT, 2 untreated), both children and adults | BMR of patients 6.3% higher than expected REE. Observed BMR of patients on ERT 27.1% higher than in age-, sex- and BMI-matched controls. No difference between the BMR of subjects with or without ERT | ||
Giraldo et al., 2016 [8] | 108 GD1 patients, 99 adults, 9 children 88% were receiving ERT or SRT | Prevalence of underweight (BMI < 18.5) - 3% in all GD1 patients - 2% in treated with ERT/SRT, 9% in untreated. Prevalence of overweight and obesity - 29% in all GD1 patients - 27% in treated with ERT/SRT, 46% in untreated. Higher incidence of overweight and obesity in splenectomised vs. non-splenectomised patients - 36 vs. 27% | ||
Grigorescu Sido et al., 2007 [20] | 24 GD1 patients, both children and adult, evaluated before and during ERT for at least 18 months. | A mean weight gain of 4.3 kg during 18 months of ERT | ||
Heitner et al., 2004 [14] | 9 paediatric GD1 patients, followed up for 2–10 years during ERT | An increase in weight during ERT was observed with an average weight gain of 3.9 kg per year | ||
Hollak et al., 1997 [17] | 12 adult GD1 patients, evaluated before and after 6 months of ERT | Pre-ERT REEa 25% greater than in age-, and weight-matched healthy subjects. Decrease of REEa after 6 months of ERT from 129 to 120% of expected values. Appearance of increase in weight (mean 1.7 +/−  0.8 kg) after 6 months of ERT; mainly a significant increase in fat mass (mean 1.6 +/−  1.5 kg) | ||
Langeveld et al., 2008 [16] | 42 adult GD1 patients (7 untreated, 35 on ERT | Â | untreated | treated |
Initial overweight incidence | 14% | 16% | ||
Weight gain | 3.8 kg or 2.2 kg/m2 during 8.2 year-follow up | 6 kg or 2.4 kg/m2 during 11 years of ERT | ||
Final overweight incidence | 57% | 56% | ||
Data presented as median values | ||||
Weight changes in untreated GD1 subjects similar to the controls and to treated GD1 patients. | ||||
Oliveira et al., 2002 [13] | 13 paediatric GD1 patients, 77% treated with ERT | Pre-ERT malnutrition rate - 26% . Post-ERT (after a median therapy of 5.3 years) malnutrition rate increased to 48% | ||