Relation between Gastrointestinal Adverse Effects in Gaucher Disease Patients and Intestinal Disaccharidases Activity Evaluated by Methane Hydrogen Breath Test  

作　　者：Blanca Medrano-Engay Marcio Andrade-Campos Maria Pilar Irun Miguel Pocovi Pilaf Giraldo 

机构地区：[1]Unidad de Investigacion Traslacional, Hospital Universitario Miguel Servet, Zaragoza 50009, Spain [2]Instituto de Investigacion Sanitaria Aragon (IIS Aragon), Zaragoza 50009, Spain [3]Centro de lnvestigacion Biomedica en Red de Enfermedades Raras (CIBERER), ISCIII, Zaragoza 50009, Spain [4]Departamento de Bioquimica y Biologia Molecular y Celular, Universidad de Zaragoza, Zaragoza 50009, Spain [5]Fundacion Espanola para el Estudio y Terapeutica de la Enfermedad de Gaucher (FEETEG), Zaragoza 50008, Spain

出　　处：《Journal of Pharmacy and Pharmacology》2017年第2期85-97,共13页药剂与药理学（英文版）

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.

关 键 词：Methane hydrogen breath test lactose intolerance sucrose intolerance maltose intolerance gastrointestinal disorders Gaucher disease miglustat. 

分 类 号：R[医药卫生]