Gauchers sygdom

Peter Mygind Leth, Ida Mølgård Knudsen

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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
Original languageDanish
JournalUgeskrift for læger
Pages (from-to)1515-1519
Publication statusPublished - 1987

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