Gaucher disease, a modern therapeutic approach
Enfermedad de Gaucher, un abordaje terapéutico moderno
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Abstract
Gaucher's disease is a lysosomal storage disorder or storage disease, for which there was only palliative therapy until 1991. The development of "orphan" drugs, thanks to the state subsidy in developed countries, allowed the production of a replacement enzyme (imiglucerase) that has completely transformed the panorama of the quality of life of patients in pediatric age and, in a sensitive way, that of adults. The first case treated in Colombia and its follow-up over five years is described. The adverse effects of the treatment are scarce and slight, but the immense cost constitutes a limitation especially in our countries. In-depth knowledge of the genetics and biochemistry of the disease led to the development of effective therapy and other conditions should follow the same course.
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