European Journal of Pediatrics

, Volume 163, Issue 2, pp 58–66

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
Original Paper

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.

Keywords

Gaucher disease Genotype Pediatric Phenotype Quality-of-life 

Abbreviations

QoL

quality-of-life

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Copyright information

© Springer-Verlag 2004

Authors and Affiliations

  • Gregory A. Grabowski
    • 1
  • Generoso Andria
    • 2
  • Antonio Baldellou
    • 3
  • Pauline E. Campbell
    • 4
  • Joel Charrow
    • 5
  • Ian J. Cohen
    • 6
  • Chris M. Harris
    • 4
  • Paige Kaplan
    • 7
  • Eugen Mengel
    • 8
  • Miguel Pocovi
    • 9
  • Ashok Vellodi
    • 10
  1. 1.Division and Program in Human GeneticsChildren’s Hospital Research FoundationCincinnatiUSA
  2. 2.Department of PediatricsFederico II UniversityNaples Italy
  3. 3.Department of PediatricsHospital Miguel ServetZaragoza Spain
  4. 4.Plymouth Institute of NeurosciencePlymouth and Great Ormond Street Hospital for ChildrenLondon UK
  5. 5.Department of Pediatrics, Feinberg School of Medicine, Northwestern UniversitySection of Clinical Genetics, Children’s Memorial HospitalChicagoUSA
  6. 6.Department of Pediatric Hematology Oncology, Schneider Children’s Medical CenterSackler School of Medicine, Tel Aviv University Israel
  7. 7.Section of Metabolic DiseasesChildren’s Hospital of Philadelphia and University of PennsylvaniaPhiladelphia USA
  8. 8.Children’s HospitalJohannes-Gutenberg UniversityMainz Germany
  9. 9.Department of Biochemistry Molecular and Cellular BiologyUniversity of ZaragozaZaragoza Spain
  10. 10.Metabolic UnitGreat Ormond Street Hospital for ChildrenLondon UK

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