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Morbus Gaucher – ein Überblick über eine Sphingolipidose


Tamò, Raphaël; Hochuli, Michel; Beuschlein, Felix; Nowak, Albina (2018). Morbus Gaucher – ein Überblick über eine Sphingolipidose. Therapeutische Umschau. Revue thérapeutique, 75(4):209-214.

Abstract

Gaucher's disease - an overview about a sphingolipidosis Abstract. Gaucher's disease is a sphingolipidosis which results from an insufficient production of the enzyme glucocerebrosidase, a lysosomal hydrolase. Glucocerebrosides accumulate particularly in macrophages. There are three types of Gaucher's disease: type 1 shows primarily visceral, hematological and skeletal manifestations. It is the most common type. The types 2 and 3 are rarer and more associated with additional neurologic symptoms. The typical findings are hepatosplenomegaly, hematopoietic diseases and skeletal dysfunctions, caused by the infiltration of the spleen and bone marrow by the glucocerebrosid - loaded macrophages. Dependending on the disease progression, the first symptoms arise in childhood or in adulthood. For the diagnostic of Gaucher's disease, the glucocerebrosidase activity in white blood cells is measured. The intravenous enzyme replacement therapy is effective.

Abstract

Gaucher's disease - an overview about a sphingolipidosis Abstract. Gaucher's disease is a sphingolipidosis which results from an insufficient production of the enzyme glucocerebrosidase, a lysosomal hydrolase. Glucocerebrosides accumulate particularly in macrophages. There are three types of Gaucher's disease: type 1 shows primarily visceral, hematological and skeletal manifestations. It is the most common type. The types 2 and 3 are rarer and more associated with additional neurologic symptoms. The typical findings are hepatosplenomegaly, hematopoietic diseases and skeletal dysfunctions, caused by the infiltration of the spleen and bone marrow by the glucocerebrosid - loaded macrophages. Dependending on the disease progression, the first symptoms arise in childhood or in adulthood. For the diagnostic of Gaucher's disease, the glucocerebrosidase activity in white blood cells is measured. The intravenous enzyme replacement therapy is effective.

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Other titles:Gaucher's disease - an overview about a sphingolipidosis
Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > University Hospital Zurich > Clinic for Endocrinology and Diabetology
Dewey Decimal Classification:610 Medicine & health
Language:English
Date:November 2018
Deposited On:07 Dec 2018 10:44
Last Modified:29 Jul 2020 08:23
Publisher:Hogrefe Verlag
ISSN:0040-5930
OA Status:Closed
Free access at:Publisher DOI. An embargo period may apply.
Publisher DOI:https://doi.org/10.1024/0040-5930/a000992
PubMed ID:30468119

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