Blass PJ

Language: Spanish
References: 11
Page: 351-358
PDF size: 489.16 Kb.

ABSTRACT

Gaucher’s disease (GD) is the most common of the lysosomal storage diseases (LSDs) that have been defined so far. Its incidence rate is quite low, but its organ involvement profile is disrupting as it results in a considerable morbidity and mortality rate, as well as in high health care costs and poor quality of life. It is a recessive and autosomal genetic disease associated with the insufficiency of the enzyme glucocerebrosidase. The storage of the substrate produces considerable organ deterioration in the skeleton, liver, kidneys, lungs, spleen, brain and bone marrow. This report presents several clinical cases of Mexican patients characterized by bone damage with the purpose of disseminating among orthopedic surgeons the typical findings and course of the disease. The particularities of the patients are discussed, as well as their response to enzyme replacement therapy (ERT) and the results of their clinical follow-up with the latest therapeutic resources.

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