European Journal of Pediatrics

, Volume 163, Issue 2, pp 67–75

Paediatric non-neuronopathic Gaucher disease: recommendations for treatment and monitoring

  • Antonio Baldellou
  • Generoso Andria
  • Pauline E. Campbell
  • Joel Charrow
  • Ian J. Cohen
  • Gregory A. Grabowski
  • Chris M. Harris
  • Paige Kaplan
  • Kieran McHugh
  • Eugen Mengel
  • Ashok Vellodi
Original Paper

DOI: 10.1007/s00431-003-1363-z

Cite this article as:
Baldellou, A., Andria, G., Campbell, P.E. et al. Eur J Pediatr (2004) 163: 67. doi:10.1007/s00431-003-1363-z

Abstract

In individuals with non-neuronopathic Gaucher disease, childhood manifestations are usually predictive of a more severe phenotype. Although children with Gaucher disease are at risk of irreversible disease complications, early intervention with an optimal dose of enzyme therapy can prevent the development of complications and ensure adequate, potentially normal, development through childhood and adolescence. Very few, if any, children diagnosed by signs and symptoms should go untreated. Evidence suggests that disease severity, disease progression and treatment response in different organs where glucocerebroside accumulates are often non-uniform in affected individuals. Therefore, serial monitoring of the affected compartments is important. This should include a thorough physical examination at 6- to 12-monthly intervals. Neurological assessment should be performed to rule out neurological involvement and should be undertaken periodically thereafter in children who are considered to have risk factors for developing neuronopathic disease. Haematological and biochemical markers, such as haemoglobin, platelet counts and chitotriosidase levels, should be assessed every 3 months initially, but when clinical goals have been met through treatment with enzyme therapy, the frequency can be reduced to every 12 to 24 months. Careful monitoring of bone disease is vitally important, as the resulting sequelae are associated with the greatest level of morbidity. By combining various imaging modalities, the skeletal complications of non-neuronopathic Gaucher disease can be effectively monitored so that irreversible skeletal pathology is avoided and pain due to bone involvement is diminished or eliminated. Monitoring must include regular psychosocial, functional status and quality-of-life evaluation, as well as consistent assessment of therapeutic goal attainment and necessary dosage adjustments based on the patient’s progress. Conclusion: Through comprehensive and serial monitoring, ultimately, a therapeutic dose of enzyme therapy that achieves sustained benefits can be found for each child with non-neuronpathic Gaucher disease.

Keywords

Gaucher diseaseManagementMonitoringPaediatricQuality-of-life

Abbreviations

ACE

angiotensin-converting enzyme

BMD

bone mineral density

DXA

dual-energy X-ray absorptiometry

QoL

quality-of-life

TRAP

tartrate-resistant acid phosphatase

Copyright information

© Springer-Verlag 2004

Authors and Affiliations

  • Antonio Baldellou
    • 1
  • Generoso Andria
    • 2
  • Pauline E. Campbell
    • 3
  • Joel Charrow
    • 4
  • Ian J. Cohen
    • 5
  • Gregory A. Grabowski
    • 6
  • Chris M. Harris
    • 3
  • Paige Kaplan
    • 7
  • Kieran McHugh
    • 8
  • Eugen Mengel
    • 9
  • Ashok Vellodi
    • 10
  1. 1.Unidad de Enfermedades MetabólicasHospital Infantil Miguel ServetZaragoza Spain
  2. 2.Department of PaediatricsFederico II UniversityNaples Italy
  3. 3.Plymouth Institute of NeurosciencePlymouth and Great Ormond Street Hospital for ChildrenLondon UK
  4. 4.Department of Paediatrics, Feinberg School of MedicineNorthwestern University, and Section of Clinical Genetics, Children’s Memorial HospitalChicago USA
  5. 5.Department of Paediatric Haematology Oncology, Schneider Children’s Medical CentreSackler School of Medicine, Tel Aviv University Israel
  6. 6.Division and Programme in Human GeneticsChildren’s Hospital Research FoundationCincinnati USA
  7. 7.Section of Metabolic DiseasesChildren’s Hospital of Philadelphia and University of PennsylvaniaPhiladelphia USA
  8. 8.Department of RadiologyGreat Ormond Street Hospital for ChildrenLondon UK
  9. 9.Children’s HospitalJohannes-Gutenburg UniversityMainz Germany
  10. 10.Metabolic UnitGreat Ormond Street Hospital for ChildrenLondon UK