[Report of a case of Gaucher's disease in adult].
The authors report a case of Gaucher's disease in an adult. This is a rare disease due to the accumulation of a glucoceramide in the reticulo-endothelial cells and may remain for long clinically symptomless, as in this case. The diagnosis suggested by the biological disturbance, viz. moderate thrombopenia, hypergammaglobulinemia, increase in SGPT, was conformed by the presence of Gaucher's cells in the liver and in the bone marrow, and by the existence of an intraleukocytic glucosidase deficiency. The authors recall the clinical forms of this disease, and recent clinical trials.
D000328:Adult; D000410:Alanine Transaminase / Q000097:blood; D005776:Gaucher Disease / Q000097:blood / Q000175:diagnosis* / Q000473:pathology; D006801:Humans; D006942:Hypergammaglobulinemia / Q000209:etiology; D008297:Male; D013921:Thrombocytopenia / Q000209:etiology
D000410:Alanine Transaminase
Une observation de maladie de Gaucher de l'adulte.