Journal of Inherited Metabolic Disease

, Volume 35, Issue 6, pp 1101–1106

Long-term bone mineral density response to enzyme replacement therapy in a retrospective pediatric cohort of Gaucher patients

  • Giovanni Ciana
  • Laura Deroma
  • Anna Martina Franzil
  • Andrea Dardis
  • Bruno Bembi
Original Article

DOI: 10.1007/s10545-012-9476-z

Cite this article as:
Ciana, G., Deroma, L., Franzil, A.M. et al. J Inherit Metab Dis (2012) 35: 1101. doi:10.1007/s10545-012-9476-z

Abstract

Osteopenia is described as a relevant sign of bone involvement in Gaucher disease (GD) both in pediatric and adult patients. Furthermore, abnormal bone metabolism is considered to play a role in growth and pubertal delay. To analyze the long-term effect of enzyme replacement therapy (ERT) on bone mineral density (BMD), a retrospective observational study was conducted in a cohort of 18 GD pediatric patients (13 males, 5 females; median age 9.2 years). They received biweekly infusions of 20-60 IU/kg of alglucerase/imiglucerase. Clinical, laboratory and imaging parameters were evaluated every 2 years. According to the International Society of Clinical Densitometry guidelines, a Z-score ≤ -2.0 was considered pathological. Nine patients (group P0) began ERT during infancy and nine (group P1) during puberty. At baseline, in three patients (16.6 %; 1P0, 2P1) Z-score was ≤ -2.0 (range -2.47 to -2.25). In patient P0 it normalized after 2 years, while in the 2P1 patients (splenectomized siblings) it persisted abnormal. The remaining 15 patients (83.4 %) always presented a normal value. In group P0, Z-score improved in infancy but showed a significant decrease during puberty, on the contrary it constantly improved in group P1. Furthermore, at baseline group P0 showed a higher median Z-score than group P1: 0.79 (0.38; 1.50) and -1.61 (-2.25; -1.56) respectively. The use of correct BMD standards to interpret bone loss during pediatric age suggests a limited significance of bone loss in these patients. Moreover, the persistence of residual disease activity may affect normal bone growth during puberty in GD populations.

Copyright information

© SSIEM and Springer 2012

Authors and Affiliations

  • Giovanni Ciana
    • 1
  • Laura Deroma
    • 1
  • Anna Martina Franzil
    • 2
  • Andrea Dardis
    • 1
  • Bruno Bembi
    • 1
  1. 1.Regional Coordinator Centre for Rare DiseasesUniversity Hospital “Santa Maria della Misericordia”UdineItaly
  2. 2.Pediatric DepartmentOspedale degli InfermiBiellaItaly