[Skeletal manifestations of Gauchers disease. A report of two cases]. / Manifestaciones óseas de la enfermedad de Gaucher. A propósito de dos casos.
An Med Interna
; 21(4): 179-82, 2004 Apr.
Article
en Es
| MEDLINE
| ID: mdl-15109286
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.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Enfermedades Óseas Metabólicas
/
Enfermedad de Gaucher
Tipo de estudio:
Diagnostic_studies
Límite:
Adult
/
Humans
/
Male
Idioma:
Es
Revista:
An Med Interna
Asunto de la revista:
MEDICINA INTERNA
Año:
2004
Tipo del documento:
Article
País de afiliación:
España
Pais de publicación:
España