You are seeing this message because your Web browser does not support basic Web standards. Find out more about why this message is appearing and what you can do to make your experience on this site better.


ABOUT ARCHIVES
Advanced Search

Welcome   | My Account | E-mail Alerts | Access Rights | Sign In


  Vol. 160 No. 6, June 2006 TABLE OF CONTENTS
  Archives
  •  Online Features
  Article
 This Article
 •Full text
 •PDF
 •Send to a friend
 • Save in My Folder
 •Save to citation manager
 •Permissions
 Citing Articles
 •Citation map
 •Citing articles on HighWire
 •Citing articles on Web of Science (9)
 •Contact me when this article is cited
 Related Content
 •Similar articles in this journal
 Topic Collections
 •Nutritional and Metabolic Disorders
 •Nutrition/ Malnutrition
 •Pediatrics, Other
 •Gastroenterology
 •Liver/ Biliary Tract/ Pancreatic Diseases
 •Anemias
 •Coagulation Disorders
 •Alert me on articles by topic
 Social Bookmarking
  Add to CiteULike Add to Connotea Add to Del.icio.us Add to Digg Add to Reddit Add to Technorati Add to Twitter What's this?

The Clinical and Demographic Characteristics of Nonneuronopathic Gaucher Disease in 887 Children at Diagnosis

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).



Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us   Add to Digg Digg   Add to Reddit Reddit   Add to Technorati Technorati   Add to Twitter Twitter     What's this?

THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES

Musculoskeletal manifestations of lysosomal storage disorders
Aldenhoven et al.
Ann Rheum Dis 2009;68:1659-1665.
ABSTRACT | FULL TEXT  

Failure to Thrive: When to Suspect Inborn Errors of Metabolism
Ficicioglu and an Haack
Pediatrics 2009;124:972-979.
ABSTRACT | FULL TEXT  

Eight-Year Clinical Outcomes of Long-Term Enzyme Replacement Therapy for 884 Children With Gaucher Disease Type 1
Andersson et al.
Pediatrics 2008;122:1182-1190.
ABSTRACT | FULL TEXT  

Therapy of adult Gaucher disease
Schmitz et al.
haematol 2007;92:148-152.
FULL TEXT  





HOME | CURRENT ISSUE | PAST ISSUES | TOPIC COLLECTIONS | SUBMIT | SUBSCRIBE | HELP
CONDITIONS OF USE | PRIVACY POLICY | CONTACT US | SITE MAP
 
© 2006 American Medical Association. All Rights Reserved.