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

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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.

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Abbreviations

ACE :

angiotensin-converting enzyme

BMD :

bone mineral density

DXA :

dual-energy X-ray absorptiometry

QoL :

quality-of-life

TRAP :

tartrate-resistant acid phosphatase

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Acknowledgements

This publication was supported by an educational grant from Genzyme Corporation.

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Authors and Affiliations

  1. Unidad de Enfermedades Metabólicas, Hospital Infantil Miguel Servet, Po. Isabel la Católica, 350009 , Zaragoza, Spain

    Antonio Baldellou

  2. Department of Paediatrics, Federico II University, Naples, Italy

    Generoso Andria

  3. Plymouth Institute of Neuroscience, Plymouth and Great Ormond Street Hospital for Children, London, UK

    Pauline E. Campbell & Chris M. Harris

  4. Department of Paediatrics, Feinberg School of Medicine, Northwestern University, and Section of Clinical Genetics, Children’s Memorial Hospital, Chicago, IL, USA

    Joel Charrow

  5. Department of Paediatric Haematology Oncology, Schneider Children’s Medical Centre, Sackler School of Medicine, Tel Aviv University, Israel

    Ian J. Cohen

  6. Division and Programme in Human Genetics, Children’s Hospital Research Foundation, Cincinnati, OH, USA

    Gregory A. Grabowski

  7. Section of Metabolic Diseases, Children’s Hospital of Philadelphia and University of Pennsylvania, Philadelphia, PA, USA

    Paige Kaplan

  8. Department of Radiology, Great Ormond Street Hospital for Children, London, UK

    Kieran McHugh

  9. Children’s Hospital, Johannes-Gutenburg University, Mainz, Germany

    Eugen Mengel

  10. Metabolic Unit, Great Ormond Street Hospital for Children, London, UK

    Ashok Vellodi

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  1. Antonio Baldellou
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  2. Generoso Andria
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Correspondence to Antonio Baldellou.

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Baldellou, A., Andria, G., Campbell, P.E. et al. Paediatric non-neuronopathic Gaucher disease: recommendations for treatment and monitoring. Eur J Pediatr 163, 67–75 (2004). https://doi.org/10.1007/s00431-003-1363-z

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  • DOI: https://doi.org/10.1007/s00431-003-1363-z

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