Diagnose und Therapie des Morbus Gaucher Aktuelle Empfehlungen der deutschen Therapiezentren im Jahr 2000 View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2001-01

AUTHORS

Claus Niederau, Arndt Rolfs, Stephan vom Dahl, Dieter Häussinger, Ludger Wilhelm Poll, Eugen Mengel, Michael Beck

ABSTRACT

Background: Gaucher's disease is the autosomally recessively inherited deficiency of the lysosomal enzyme glucocerebrosidase. Increasing storage of glucocerebrosides leads to a multisystem disease, the prevalence of which is about 1 : 40,000 in central Europe and up to 1 : 2,000 in some other countries (e. g. Israel). The acute and chronic neuronopathic forms of the disease (formerly defined as Gaucher types 2 and 3) account for only 5 to 10% of all Gaucher patients in Central Europe and Germany and are thus less frequent than the non-neuronopathic disease (formerly defined as Gaucher type 1). Gaucher's disease is usually associated with spleno- and hepatomegaly, fatigue, skeletal complications, and several corresponding hematological and laboratory abnormalities. In 5 to 10% of the patients there are also central nervous symptoms such as myoclonic seizures, oculomotoric apraxia and a slight mental retardation.Methods: Four specialized centers care for more than 2/3 of all German Gaucher patients today. These centers present their consensus recommendations for state-of-the-art diagnosis and treatment of Gaucher's disease.Results: Recent epidemiological data indicate that only 10 to 20% of all Gaucher patients are correctly diagnosed (and treated) in Germany. The diagnosis today can be done in all patients by noninvasive methods, i. e. determination of the glucocerebrosidase activity in peripheral leukocytes and of the genetic defect. The current enzyme replacement therapy with glucocerebrosidase has proven effective to improve and often normalize hematological abnormalities, hepatosplenomegaly, skeletal complications and quality of life, provided that the therapy is started early and is given at adequate dosages.Conclusion: In view of the availability of an effective therapy, efforts should be made to increase the awareness of Gaucher's disease in differential diagnosis, to help to diagnose the disease with noninvasive techniques at early stages, and to provide practical guidelines for adequate treatment. More... »

PAGES

32-39

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/pl00002150

DOI

http://dx.doi.org/10.1007/pl00002150

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1052985020

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/11210487


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