Gauchers sygdom

Peter Mygind Leth, Ida Mølgård Knudsen

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Abstrakt

Gaucher's disease is an autosomal recessive disease due to deficiency of the enzyme glucocerebrosidase with subsequent accumulation of glucocerebroside in the reticuloendothelial system. The disease is subdivided into Types 1, 2 and 3. Type 1 is associated with hepatosplenomegaly and lesions of bone and is compatible with normal duration of life. Patients with Type 2 have, in addition, neuropathy and die at the age of 2-3 years. Type 3 is an intermediate condition. Type 1 is associated with B-lymphocyte-proliferative disease, possible on account of chronic stimulation of the immune system. Type 2 and 3 are due to different mutations of the same gene. Differences have been found in the enzyme's ability to react to stimulation with phosphplipides in the different forms of the disease. A neurotoxic breakdown product accumulates in Type 2 patients and this may be a contributory cause of the neuropathy. At present, only symptomatic treatment can be offered but future therapeutic possibilities include enzyme substitution therapy, bone-marrow transplantation and gene therapy. An animal model is desirable for assessment of these forms of treatment
OriginalsprogDansk
TidsskriftUgeskrift for læger
Vol/bind149
Sider (fra-til)1515-1519
ISSN0041-5782
StatusUdgivet - 1987

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