A study on the nutritional status and body composition of children with Hutchinson–Gilford progeria syndrome
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Objective
Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare genetic disorder characterized by premature aging, severe growth retardation, and metabolic abnormalities. This study aimed to evaluate the growth, nutritional status, and body composition of HGPS patients, with a focus on fat and muscle distribution, to provide insights into potential nutritional and therapeutic interventions.
Methods
Eight HGPS patients (aged ≥ 3 years) and 18 age- and sex-matched healthy controls were enrolled. Physical assessments, dietary surveys, and laboratory tests were conducted, including dual-energy X-ray absorptiometry (DXA) to analyze bone density, fat distribution, and muscle mass. Genetic testing confirmed LMNA mutations in all patients. Data on growth parameters, dietary intake, and metabolic profiles were collected and compared with controls.
Results
HGPS patients exhibited severe growth retardation, with significant declines in height and weight by two months of age compared to controls. Dietary surveys revealed that 4 out of 8 subjects had sufficient energy intake, the energy intake was 91 ± 39% of the estimated basal metabolic rate. DXA analysis showed reduced bone density (Z-score: -2.82 ± 1.46), abnormal fat distribution (increased visceral fat and decreased subcutaneous fat, the T/L fat ratio and A/G fat ratio > 95th percentile for boys and girls in China), and significant reductions in total and limb muscle mass(< mean-2SD).
Conclusion
HGPS patients experience profound growth retardation, metabolic dysfunction, and abnormal body composition, including reduced muscle mass and altered fat distribution. A nutrient-dense diet with increased protein intake, healthy fat intake, and supplementation with vitamin D, calcium, and zinc are essential to support growth and muscle maintenance. Tailored and individualised dietary interventions may further improve outcomes. Continuous monitoring and further research are needed to optimize interventions and enhance the quality of life for HGPS patients.
