Abstract
Background. Accumulation of glucocerebroside in spleen, liver, bone marrow and bones, but rarely in other organs, due to inborn deficiency of lisosomal enzyme glucocerebrosidase leads to Gaucher disease. The most common is type 1, chronic non-neuronopathic form of Gaucher disease. In type 1 the central nervous system is not affected and clinical presentations are variable. It could be a mild disease not necessitating therapy or a more severe one which sometimes results even in disability. In such cases the replacement enzyme therapy is reasonable and the dose should be adjusted to the severity of the illness. It improves the patient’s condition and prevents the progression of the disease. Conclusions. This article emphasises the guidelines for the management of patients with Gaucher disease, type 1. Recommendations for diagnostic approach and follow up of the patients as well as groups of patients necessitating a replacement enzyme therapy at appropriate doses are defined and stated.
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