Joint Research Unit on Endocrinology, Nutrition and Clinical Dietetics, Health Research Institute La Fe, 46026 Valencia, Spain.
Parasite & Health Research Group, Area of Parasitology, Department of Pharmacy and Pharmaceutical Technology and Parasitology, University of Valencia, 46010 Valencia, Spain.
Nutrients. 2024 Aug 16;16(16):2741. doi: 10.3390/nu16162741.
The rise in food intolerances and celiac disease, along with advanced diagnostic techniques, has prompted health professionals to seek effective and economical testing methods. This study evaluates combining genetic tests with routine carbohydrate-absorption breath tests to classify patients with chronic gastrointestinal disorders into therapeutic groups, enhancing dietary management and improving gut health and quality of life. Forty-nine patients with suspected carbohydrate intolerance underwent genetic testing for lactase non-persistence, hereditary fructose intolerance, and celiac disease risk. Simultaneously, breath tests assessed lactose and fructose absorption. The lactase non-persistence genotype appeared in 36.7% of cases, with one hereditary fructose-intolerance case in a heterozygous condition. Celiac disease risk markers (HLA-DQ2/8 haplotypes) were found in 49.0% of the population. Secondary lactose and/or fructose malabsorption was present in 67.3% of patients, with 66.1% of lactase non-persistence individuals showing secondary lactose malabsorption. Fructose malabsorption was prevalent in 45.8% of patients at risk for celiac disease. Two main treatment groups were defined based on genetic results, indicating primary and irreversible gastrointestinal disorder causes, followed by a sub-classification using breath test results. Genetic testing is a valuable tool for designing dietary management plans, avoiding unnecessary diet restrictions, and reducing recovery times.
食物不耐受和乳糜泻的增加,以及先进的诊断技术,促使医疗保健专业人员寻求有效和经济的测试方法。本研究评估了将基因检测与常规碳水化合物吸收呼气试验相结合,将慢性胃肠道疾病患者分为治疗组,以加强饮食管理,改善肠道健康和生活质量。49 名疑似碳水化合物不耐受的患者接受了乳糖酶非持续性、遗传性果糖不耐受和乳糜泻风险的基因检测。同时,进行了呼气试验以评估乳糖和果糖的吸收情况。乳糖酶非持续性基因型出现在 36.7%的病例中,杂合子中有 1 例遗传性果糖不耐受。在 49.0%的人群中发现了乳糜泻风险标志物(HLA-DQ2/8 单倍型)。67.3%的患者存在继发性乳糖和/或果糖吸收不良,66.1%的乳糖酶非持续性个体存在继发性乳糖吸收不良。45.8%的乳糜泻风险患者存在果糖吸收不良。根据基因检测结果确定了两个主要的治疗组,提示存在原发性和不可逆转的胃肠道疾病原因,然后根据呼气试验结果进行亚分类。基因检测是设计饮食管理计划、避免不必要的饮食限制和减少恢复时间的有价值工具。