摘要
The aim of this paper is to study the disaccharidase profile in GD （Gaucher disease） patients treated or not with miglustat and compare it with a healthy control group. Miglustat is an iminosugar used as substrate inhibitor in the therapy of some lysosomal disorders, its main side effects resembling carbohydrate maldigestion symptoms and cause more than 50% of medication discontinuation among GD patients. In-vitro studies have revealed that miglustat can act as an inhibitor of some digestive enzymes. An exploratory non-interventional study was designed to compare the disaccharidase profile assessed by MHBT （methane hydrogen breath test） and to analyze the correlation with the reported gastrointestinal symptoms in GD patients （40） and healthy subjects （20）. MHBT was performed following the ingestion of lactose, sucrose and maltose on different days. Each participant completed two detailed surveys about dietary habits, medications and gastrointestinal symptoms previous and during the test. Twenty-one GD were receiving miglustat, 10 （47.6%） of them reported gastrointestinal side effects, and 7/10 （70%） recorded a positive MHBT （lactose 5, maltose 2, and sucrose 1）. In 6/19 （31.6%） patients that never been exposed to miglustat and 7/20 （35%） controls a positive MHBT were detected. The comparison of the malabsorption phenotype between GD patients exposed and not exposed to miglustat （p = 0.028） and control group （p 〈 0.04） showed high statistical significance for the group of patients treated with miglustat. These results suggest that miglustat therapy induces persistent changes in digestive enzyme activity in GD patients.
