Pediatric non-neuronopathic Gaucher disease: Presentation, diagnosis and assessment. Consensus statements

Gregory A. Grabowski*, Generoso Andria, Antonio Baldellou, Pauline E. Campbell, Joel Charrow, Ian J. Cohen, Chris M. Harris, Paige Kaplan, Eugen Mengel, Miguel Pocovi, Ashok Vellodi

*Corresponding author for this work

Research output: Contribution to journalArticle

92 Scopus citations

Abstract

Gaucher disease is caused by defective activity of glucocerebrosidase. The resulting accumulation of glucocerebroside in the lysosomes of visceral macrophages in various tissue and organ compartments leads to multiple manifestations, including hepatosplenomegaly, anemia, thrombocytopenia, growth retardation and skeletal disease. The most prevalent form of Gaucher disease is the non-neuronopathic (type 1) variant, which lacks primary involvement of the central nervous system. Traditionally, this has been referred to as the 'adult type'; however, 66% of individuals with symptomatic non-neuronopathic Gaucher disease manifest in childhood. Onset in childhood is usually predictive of a severe, rapidly progressive phenotype and children with non-neuronopathic Gaucher disease are at high risk for morbid complications. Enzyme therapy with recombinant human glucocerebrosidase in childhood can restore health in reversible manifestations and prevent the development of irreversible symptoms. A heightened focus on pediatric Gaucher disease is therefore needed. Although some correlation has been found between genotype and phenotype, mutation analysis is of limited value in disease prognosis. Management of pediatric Gaucher disease should be underpinned by a thorough assessment of the phenotype at baseline with regular monitoring thereafter. Excluding neuronopathic disease is recommended as the first step. Subsequently, baseline evaluation should focus on staging of different storage tissues, particularly the bone the involvement of which results in the greatest long-term morbidity. These organ assessments are recommended because bone disease severity may not correlate with disease severity in other organs and vice versa. In addition, different organs may respond differently to therapy. Initial assessment of each organ system can enable setting of realistic and individualized goals. Conclusion: A thorough approach to baseline assessment will improve the understanding of childhood Gaucher disease, optimizing management to minimize impairment of growth and development and prevent irreversible symptoms.

Original languageEnglish (US)
Pages (from-to)58-66
Number of pages9
JournalEuropean Journal of Pediatrics
Volume163
Issue number2
DOIs
StatePublished - Feb 2004

Keywords

  • Gaucher disease
  • Genotype
  • Pediatric
  • Phenotype
  • Quality-of-life

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Fingerprint Dive into the research topics of 'Pediatric non-neuronopathic Gaucher disease: Presentation, diagnosis and assessment. Consensus statements'. Together they form a unique fingerprint.

  • Cite this

    Grabowski, G. A., Andria, G., Baldellou, A., Campbell, P. E., Charrow, J., Cohen, I. J., Harris, C. M., Kaplan, P., Mengel, E., Pocovi, M., & Vellodi, A. (2004). Pediatric non-neuronopathic Gaucher disease: Presentation, diagnosis and assessment. Consensus statements. European Journal of Pediatrics, 163(2), 58-66. https://doi.org/10.1007/s00431-003-1362-0