Splenomegali og dårlig trivselsom følge af morbus Gaucher

Grith Lærkholm Hansen; Allan Meldgaard Lund; Malene Landbo Børresen

Splenomegali og dårlig trivselsom følge af morbus Gaucher

Translated title of the contribution: Splenomegaly and failure to thrive as a result of Gaucher disease

Grith Lærkholm Hansen, Allan Meldgaard Lund, Malene Landbo Børresen

Department of Clinical Genetics

1 Citation (Scopus)

Abstract

Gaucher disease (GD) is the most common lysosomal storage disease with a prevalence of 1:75,000. The disease is caused by a defiency of the lysosomal enzyme glucocerebrosidase which leads to an accumulation of the substrate glycosylceramide within macrophages. GD presents with a wide spectrum of symptoms but involvement of the bones, bone marrow and spleen or liver is seen in the majority of patients. We present the case of a ten-year-old girl with massive splenomegaly, cytopenia, poor growth, learning difficulties and extreme fatigue for several years.

Translated title of the contribution	Splenomegaly and failure to thrive as a result of Gaucher disease
Original language	Danish
Journal	Ugeskrift for Laeger
Volume	177
Issue number	37
Pages (from-to)	V04150358
ISSN	0041-5782
Publication status	Published - 7 Sept 2015

Cite this

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abstract = "Gaucher disease (GD) is the most common lysosomal storage disease with a prevalence of 1:75,000. The disease is caused by a defiency of the lysosomal enzyme glucocerebrosidase which leads to an accumulation of the substrate glycosylceramide within macrophages. GD presents with a wide spectrum of symptoms but involvement of the bones, bone marrow and spleen or liver is seen in the majority of patients. We present the case of a ten-year-old girl with massive splenomegaly, cytopenia, poor growth, learning difficulties and extreme fatigue for several years.",

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AU - Børresen, Malene Landbo

PY - 2015/9/7

Y1 - 2015/9/7

N2 - Gaucher disease (GD) is the most common lysosomal storage disease with a prevalence of 1:75,000. The disease is caused by a defiency of the lysosomal enzyme glucocerebrosidase which leads to an accumulation of the substrate glycosylceramide within macrophages. GD presents with a wide spectrum of symptoms but involvement of the bones, bone marrow and spleen or liver is seen in the majority of patients. We present the case of a ten-year-old girl with massive splenomegaly, cytopenia, poor growth, learning difficulties and extreme fatigue for several years.

AB - Gaucher disease (GD) is the most common lysosomal storage disease with a prevalence of 1:75,000. The disease is caused by a defiency of the lysosomal enzyme glucocerebrosidase which leads to an accumulation of the substrate glycosylceramide within macrophages. GD presents with a wide spectrum of symptoms but involvement of the bones, bone marrow and spleen or liver is seen in the majority of patients. We present the case of a ten-year-old girl with massive splenomegaly, cytopenia, poor growth, learning difficulties and extreme fatigue for several years.

UR - https://www.scopus.com/pages/publications/84964644906

M3 - Tidsskriftartikel

C2 - 26376243

SN - 0041-5782

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SP - V04150358

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JF - Ugeskrift for Laeger

IS - 37

ER -

Splenomegali og dårlig trivselsom følge af morbus Gaucher

Abstract

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