Gauchers sygdom

Peter Mygind Leth, Ida Mølgård Knudsen

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Resumé

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

Citer dette

Leth, P. M., & Knudsen, I. M. (1987). Gauchers sygdom. Ugeskrift for læger, 149, 1515-1519.
Leth, Peter Mygind ; Knudsen, Ida Mølgård. / Gauchers sygdom. I: Ugeskrift for læger. 1987 ; Bind 149. s. 1515-1519.
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abstract = "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",
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Leth, PM & Knudsen, IM 1987, 'Gauchers sygdom', Ugeskrift for læger, bind 149, s. 1515-1519.

Gauchers sygdom. / Leth, Peter Mygind; Knudsen, Ida Mølgård.

I: Ugeskrift for læger, Bind 149, 1987, s. 1515-1519.

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

TY - JOUR

T1 - Gauchers sygdom

AU - Leth, Peter Mygind

AU - Knudsen, Ida Mølgård

PY - 1987

Y1 - 1987

N2 - 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

AB - 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

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VL - 149

SP - 1515

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JO - Ugeskrift for Laeger

JF - Ugeskrift for Laeger

SN - 0041-5782

ER -

Leth PM, Knudsen IM. Gauchers sygdom. Ugeskrift for læger. 1987;149:1515-1519.