Journal of Inherited Metabolic Disease

, Volume 35, Issue 6, pp 1101–1106 | Cite as

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

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


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.


Bone Mineral Density Enzyme Replacement Therapy Gauche Disease Asperger Syndrome Gauche Disease Patient 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.



We gratefully acknowledge of Giulia Liva for her precious help and support in writing this paper.

Conflict of interest



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Copyright information

© SSIEM and Springer 2012

Authors and Affiliations

  • Giovanni Ciana
    • 1
    Email author
  • 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

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