Aim To assess the state of bone tissue in children with GSD

Material and Method A retrospective (with analysis of medical documentation) one-stage study was conducted, which included 61 children with GSD (40 boys, 21 girls) aged 9 months to 17 years 10 months, median age - 5 years 9 months [4 years 3 months; 7 years 10 months]. The distribution by GSD types was: Ia – 6, Ib – 13, III – 15, VI – 5, IX – 22 children. All patients underwent radiography of the hands and wrist (RHW) with the calculation of bone age (BA), 33 patients also performed the determination of bone mineral density (BMD) of the lumbar spine by the dual-energy X-ray absorptiometry (DERA) taking into account BA and Z-score calculation.

Results Normal BA calculated according to the RHW data corresponded in 9 patients (14.8%), BA less than chronological age – in 46 (75.4%), BA exceeding chronological age – in 6 (9.8%) of 61 children. At the same time, its lag was most often found in children with GSD VI, III and Ib types, rarely – with GSD Ia and IX types. BMD indicators were normal in 13 (39.4%), decreased in 15 (45.5%), osteoporotic in 5 (15.1%) of 33 children.

Conclusions 75.4% of patients with GSD have BA less than chronological age, 15.5% already have osteoporosis, and 45.5% have a decrease in BMD, and therefore they are at risk for the development of osteoporosis.