Gaucher disease: a heterogeneous clinical complex for which effective enzyme replacement has come of age.

摘要: ABSTRACT Gaucher disease, the most common form of lysosomal storage is result autosomal recessive inheritance a enzyme glucocerebrosidase deficiency, which produces defective hydrolysis glucosylceramide that accumulates in reticuloendothelial (tissue macrophage) cells. The current review focuses on Type 1 (the nonneuronopathic) or adult disease and defines clinical manifestations (splenomegaly, hepatomegaly, bony lesions, metabolic dysfunction) relationship to known enzymatic defect. diversity variability symptoms signs, age at onset their rate progression, heterogeneity organs involved are reviewed. Extensive delineation nature defect recent molecular characterization mutants has not provided an explanation for remarkable phenotypic heterogeneity. Enzyme assays now provide excellent method diagnosis. Effective replacement therapy emphasizes value early diagnosis altered costs potential risks older therapeutic indications splenectomy cytokine therapy. efficacy raises questions about specific treatment desirable duration delivery.