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Paige Kaplan, MBBCh; Hans C. Andersson, MD; Katherine A. Kacena, PhD; John D. Yee, MD, MPH

Arch Pediatr Adolesc Med. 2006;160:603-608.

Objective  To describe the clinical and demographic characteristics of nonneuronopathic Gaucher disease (GD) in children at the time of diagnosis.

Design  Longitudinal observational database of the International Collaborative Gaucher Group Gaucher Registry.

Setting  Data reported to the Registry from January 1, 1989, to June 3, 2005, were included in this report.

Patients/Participants  All 887 patients were diagnosed as having nonneuronopathic GD from birth to younger than 18 years and did not receive enzyme replacement therapy.

Main Outcome Measures  Eight measures of the clinical manifestations and demographics of nonneuronopathic GD.

Results  The most common signs and symptoms noted were splenomegaly (95%), hepatomegaly (87%), radiologic bone disease (81%), thrombocytopenia (50%), anemia (40%), growth retardation (34%), bone pain (27%), and bone crisis (9%). Anemia and more severe splenomegaly and hepatomegaly were observed more frequently in younger patients. Skeletal manifestations were found more often in older children. Only 23% were identified as Ashkenazi Jews.

Conclusions  Nonneuronopathic GD commonly manifests in childhood and affects many ethnic groups. The high prevalence of rare mutations may be associated with earlier onset and/or more severe disease. Increased awareness of the clinical and demographic characteristics of nonneuronopathic GD in children may improve early recognition of this treatable lysosomal storage disorder, decrease morbidity, and prevent irreversible sequelae.

Author Affiliations: Section of Metabolic Diseases, Department of Pediatrics, The Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia (Dr Kaplan); Hayward Genetics Center, Tulane University Medical Center, New Orleans, La (Dr Andersson); and Genzyme Corporation, Cambridge, Mass (Drs Kacena and Yee).

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