Congruency of Genetic Predisposition to Lactase Persistence and Lactose Breath Test
Congruency of Genetic Predisposition to Lactase Persistence and Lactose Breath Test
复制标题
DOI：
10.3390/nu11061383
复制
发表时间：
2019-06-01
期刊：
影响因子：
5.9
通讯作者：
De Magistris, Laura
中科院分区：
文献类型：
--
作者：
Coluccia, Enza;Iardino, Patrizia;De Magistris, Laura
在某些个体中，成年期乳糖酶产生的生理性下降是所谓的乳糖不耐症的原因。这种临床综合征表现为食用含乳制品的食物后的胃肠道和非胃肠道症状。乳糖不耐症可以通过乳糖呼吸试验（表型）和/或乳糖酶基因多态性（基因型）的遗传评估进行评估。在大量有症状的成人受试者中进行了两种试验的比较，这些受试者是选定的，不代表一般人群。符合率高达88.6%。在乳糖酶非持久性（基因型C/C），14例受试者显示阴性乳糖呼吸试验（LBT），可能是由于年轻。在乳糖酶持续型（基因型C/T）中，4名受试者显示出阳性LBT，这有助于诊断继发性乳糖不耐症。呼吸试验期间，90%的患者报告了胃肠道和胃肠道外症状。在同一患者中临床使用这两种测试可以被认为是一种尖锐的诊断工具。我们建议在LBT给药后，当怀疑继发性乳酸脱氢酶缺乏时，考虑使用基因检测完成诊断程序。
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.