Recommendations for the assessment and monitoring of skeletal manifestations in children with Gaucher disease
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Recommendations for the assessment and monitoring of skeletal manifestations in children with Gaucher disease M. Maas & T. Hangartner & G. Mariani & K. McHugh & S. Moore & G. A. Grabowski & P. Kaplan & A. Vellodi & J. Yee & L. Steinbach
Published online: 19 December 2007 # The Author(s) 2007
Introduction Gaucher disease (GD), the most common of the lysosomal storage disorders, results from mutations in the gene for acid β-glucosidase (glucocerebrosidase, GBA) leading to insufficient enzyme activity [1]. Glucocerebroside accumulation in the lysosomes of various cell types is responsible for the clinical manifestations of GD, which may include hepatomegaly, splenomegaly, anemia, thrombocytopenia, and bone marrow infiltration by lipid-engorged “Gaucher M. Maas (*) Department of Radiology, Suite G1-211, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands e-mail: [email protected] T. Hangartner BioMedical Imaging Laboratory, Wright State University and Miami Valley Hospital, Dayton, OH, USA G. Mariani Regional Center of Nuclear Medicine, University of Pisa, Pisa, Italy K. McHugh Department of Radiology, Great Ormond Street Hospital for Children, London, United Kingdom S. Moore Department of Imaging Services, Children’s Hospital of Los Angeles, Los Angeles, CA, USA G. A. Grabowski Division of Human Genetics, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, USA
cells.” Occurring panethnically, type 1 (non-neuronopathic) is the most prevalent form of GD, while the less frequent type 2 (acute neuronopathic) and type 3 (chronic neuronopathic) are characterized by neurological involvement. More than half of type 1 patients are diagnosed in childhood and an earlier age of onset is indicative of more severe disease due to its progressive nature. Affecting both the marrow and mineral compartments, GD-related bone disease is the most significant cause of morbidity and long-term disability for patients. GD-related G. A. Grabowski Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA P. Kaplan Department of Pediatrics, The Children’s Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA, USA A. Vellodi Metabolic Unit, Great Ormond Street Hospital for Children, London, United Kingdom J. Yee Global Medical Affairs, Genzyme Corporation, Cambridge, USA L. Steinbach Department of Radiology, University of California San Francisco, San Francisco, CA, USA
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bone disease in children is a major cause for concern as it puts them at risk of developing irreversible and debilitating bone complications and interferes with normal growth and achievement of optimal bone mass during a critical period of growth. Timely initiation of appropriate disease management is necessary to avoid serious long-term complications such as growth retardation, osteoporosis, and fractures, and includes an initial radiological assessment and ongoing monitoring of both the bone marrow and mineral components. General guidelines for the m
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