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  1. Gaucher disease : Recommendations on diagnosis, evaluation, and monitoring.

    Article - En anglais

    Background 

    Timely diagnosis and continued monitoring of patients with type I Gaucher disease is critical because skeletal involvement can permanently disable patients and visceral organ involvement can lead to abdominal pain and secondary hematologic and biochemical complications.

    Objective 

    To seek clinical consensus for minimum recommendations for effective diagnosis and monitoring of patients with type I Gaucher disease.

    Participants, Evidence, and Consensus Process 

    Contributing authors collaborated in quarterly meetings over a 2-year period to synthesize recommendations from peer-reviewed publications and their own medical experiences.

    These physicians care for most patients with Gaucher disease in the United States and serve as the US Regional Coordinators for the International Collaborative Gaucher Group Registry, the world's largest database for this disorder.

    Conclusions 

    The definitive method of diagnosis is enzyme assay of bêta-glucocerebrosidase activity.

    Schedules differ for monitoring complications of type I Gaucher disease, depending on symptoms and whether enzyme replacement therapy is used.

    Hematologic and biochemical involvement should be assessed by complete blood cell count, including platelets, acid phosphatase, and liver enzymes, at baseline and every 12 months in untreated patients and every 3 months and at enzyme replacement therapy changes in treated patients. (...)

    Mots-clés Pascal : Sphingolipidose héréditaire Gaucher, Diagnostic, Analyse biochimique, Recommandation, Monitorage, Evaluation, Imagerie RMN, Squelette, Traitement, Homme, Enzymopathie, Métabolisme pathologie, Lipoïdose, Système nerveux pathologie, Système nerveux central pathologie, Encéphale pathologie, Maladie héréditaire, Prévention, Imagerie médicale

    Mots-clés Pascal anglais : Gaucher disease, Diagnosis, Biochemical analysis, Recommendation, Monitoring, Evaluation, Nuclear magnetic resonance imaging, Skeleton, Treatment, Human, Enzymopathy, Metabolic diseases, Lipoidosis, Nervous system diseases, Central nervous system disease, Cerebral disorder, Genetic disease, Prevention, Medical imagery

    Logo du centre Notice produite par :
    Inist-CNRS - Institut de l'Information Scientifique et Technique

    Cote : 98-0433061

    Code Inist : 002B17G. Création : 25/01/1999.