[Skeletal manifestations of Gauchers disease. A report of two cases].
Gauchers disease is the most frequent hereditary lysosomal deposit storage disorder. It is characterized by a deficiency of the enzyme glucocerebrosidase that leads to an accumulation of substrate in the interior of the macrophage lysosomes. It is classified in three types, according to the presence of central nervous system involvement (type 2 and 3) or not (type 1). It is a multisystemic disease and in the majority of patients there is hepatosplenomegaly, anemia and thrombocytopenia. Skeletal involvement is also important and it is frequently the most disabling manifestation. We present two cases of Gauchers with skeletal manifestations and we review the literature.
Campo López
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C
Servicio de Medicina Interna, Hospital Universitario La Fe, Valencia, Spain.
Calabuig Alborch
J R
JR
Aguilar Jiménez
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J
Alonso Estellés
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D000328:Adult; D001851:Bone Diseases, Metabolic / Q000000981:diagnostic imaging / Q000209:etiology* / Q000628:therapy; D001842:Bone and Bones / Q000000981:diagnostic imaging / Q000473:pathology; D005776:Gaucher Disease / Q000150:complications* / Q000000981:diagnostic imaging / Q000628:therapy; D006801:Humans; D008297:Male; D011859:Radiography