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标题：Congruency of Genetic Predisposition to Lactase Persistence and Lactose Breath Test
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作者：Enza Coluccia ; Patrizia Iardino ; Diego Pappalardo 等
期刊名称：Nutrients
电子版ISSN：2072-6643
出版年度：2019
卷号：11
期号：6
页码：1383-1390
DOI：10.3390/nu11061383
出版社：MDPI Publishing
摘要：The physiological decline of lactase production in adulthood, in some individuals, is responsible for the so-called “Lactose Intolerance.” This clinical syndrome presents with gastrointestinal and non-gastrointestinal symptoms following the consumption of dairy containing food. Lactose intolerance can be evaluated by means of the Lactose Breath Test (phenotype) and/or genetic evaluation of lactase-gene polymorphism (genotype). A comparison of the two tests was carried out in a large number of symptomatic adult subjects, which are selected and not representative of the general population. Congruency was as high as 88.6%. Among lactase non-persistent (genotype C/C), 14 subjects showed a negative Lactose Breath Test (LBT), possibly due to young age. Among lactase-persistent (genotype C/T), four subjects showed a positive LBT, which helps to diagnose secondary lactose intolerance. Symptoms, both gastrointestinal and extra-gastrointestinal, were reported by 90% of patients during the breath test. Clinical use of both tests in the same patients could be taken into consideration as a sharp diagnostic tool. We suggest considering the use of the genetic test after LBT administration, when secondary hypolactasia is suspected, for completion of diagnostic procedures.
关键词：lactose; lactose intolerance; lactase; H 2 /CH 4 lactose breath test; lactase genetic test; gastrointestinal symptoms lactose ; lactose intolerance ; lactase ; H 2 /CH 4 lactose breath test ; lactase genetic test ; gastrointestinal symptoms