Pienar Corina, Pop Liviu, Lăzărescu Marilena, Costăchescu Radmila, Mogoi Mirela, Mare Ruxandra, Șeclăman Edward
Department of Pediatrics, 2nd Pediatrics Clinic, "Victor Babes" University of Medicine and Pharmacy, 300041 Timisoara, Romania.
The Necker-Enfants Malades Hospital, University of Paris Descartes, 75006 Paris, France.
Children (Basel). 2023 Jun 18;10(6):1075. doi: 10.3390/children10061075.
Primary lactose intolerance (PLI) is characterized by the inability to digest lactose. Homozygotes for the lactase gene polymorphisms (CC or GG) are considered to be genetically predisposed to PLI. Still, symptoms may only be present later in life. The evidence supporting a link between PLI, dairy intake, and quality of life (QoL) is limited in children.
This study investigates the link between LCT polymorphisms and suggestive symptoms and the influence of the genetic predisposition to PLI on dairy intake and QoL in Romanian children.
We recruited consecutive children evaluated in our ambulatory clinic. We asked all participants to complete a visual-analog symptoms scale, a dairy intake, and a QoL questionnaire. We used strip genotyping to identify genetic predisposition to PLI.
51.7% of children had a CC genotype, and 34.5% also had a GG genotype. Most children reported no or mild symptoms. Dairy intake and QoL were similar across study groups.
Our study shows that genetic predisposition does not necessarily assume the presence of specific symptoms. Genetic predisposition to PLI did not lead to dairy avoidance, nor did it negatively influence our children's QoL.
原发性乳糖不耐受(PLI)的特征是无法消化乳糖。乳糖酶基因多态性的纯合子(CC或GG)被认为在遗传上易患PLI。然而,症状可能仅在生命后期出现。支持PLI、乳制品摄入与生活质量(QoL)之间联系的证据在儿童中有限。
本研究调查罗马尼亚儿童中LCT基因多态性与提示性症状之间的联系,以及PLI的遗传易感性对乳制品摄入和生活质量的影响。
我们招募了在我们门诊接受评估的连续儿童。我们要求所有参与者完成视觉模拟症状量表、乳制品摄入量和生活质量问卷。我们使用条带基因分型来确定PLI的遗传易感性。
51.7%的儿童具有CC基因型,34.5%的儿童也具有GG基因型。大多数儿童报告无或仅有轻微症状。各研究组的乳制品摄入量和生活质量相似。
我们的研究表明,遗传易感性不一定意味着存在特定症状。PLI的遗传易感性并未导致避免食用乳制品,也未对我们儿童的生活质量产生负面影响。