根据乙酰化基因型预测儿童发生腹部粘连的风险

Q4 Medicine
M. Melnychenko, A. Kvashnina, P. Antonenko, K.A. Antonenko
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The study of the frequency of mutations at position 481 revealed the greatest diversity of the studied variants of genotypes: 33.3% of the children of the main group were homozygous for the wild-type gene, 44.4% were heterozygotes, 22.2% of patients had a homozygous mutant gene. According to the NAT-2 * 6A genotype (G 590 - A), the majority of patients (55.6%) were heterozygotes, 44.4% were homozygotes with the wild-type of the gene. Not a single case of mutation at position 857 has been identified. Among the children of the main group, the share of «fast» acetylators was 69.4%, in the comparison group - 40.0% (χ2=6.215; p=0.013). The development of postoperative adhesive intestinal obstruction in children with the “fast” acetylation genotype occurred in the absence of clinical and anamnestic risk factors and was characterized by a greater severity and prevalence of intra-abdominal adhesive process (PAI was (14.8±1.8) and (8.1±2.4 ), respectively). Conclusion. 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引用次数: 0

摘要

客观的确定N-芳基乙酰转移酶-2(NAT-2)基因多态性对评估儿童术后粘连性肠梗阻风险的预测价值。方法。在所有儿童(36名粘连性肠梗阻儿童(主要组)和35名计划患者(比较组))中,通过等位基因特异性扩增方法检测NAT-2基因的点突变,并分析解聚酶链式反应限制性片段长度多态性,研究乙酰化基因型。后果对481位突变频率的研究揭示了所研究的基因型变体的最大多样性:33.3%的主要组儿童为野生型基因纯合子,44.4%为杂合子,22.2%的患者具有纯合突变基因。根据NAT-2*6A基因型(G 590-A),大多数患者(55.6%)为杂合子,44.4%为该基因野生型的纯合子。在857位没有发现一例突变。在主要组的儿童中,“快速”乙酰化物的比例为69.4%,比较组为40.0%(χ2=6.215;p=0.013)。具有“快速”乙酰化基因型的儿童术后粘连性肠梗阻的发生是在没有临床和记忆危险因素的情况下发生的,其特征是腹腔粘连过程的严重程度和患病率更高(PAI分别为(14.8±1.8)和(8.1±2.4))。结论儿童术后发生粘连并发症的风险可以通过检测N-乙酰转移酶-2基因的遗传多态性来预防。发生粘连性肠梗阻的风险组由NAT-2等位基因携带者组成,他们对应于“快速”和“中度”乙酰化的基因型。即使在没有其他风险因素的情况下,“快速”乙酰化的儿童也有更明显的腹腔内粘连过程和更高的并发症风险。本文将N-乙酰转移酶2(NAT2)基因多态性作为儿童粘连性肠梗阻的预后危险因素进行了研究。作为“快速”乙酰化基因型携带者的儿童发生腹腔粘连的风险更高,因此需要在所有可能影响的阶段采取更全面的预防措施。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
PREDICTING THE RISK OF DEVELOPING ABDOMINAL ADHESIONS IN CHILDREN DEPENDING ON ACETYLATION GENOTYPE
Objective. To determine the predictive value of the genetic polymorphism of the N-arylacetyltransferase-2 (NAT-2) gene for assessing the risk of postoperative adhesive intestinal obstruction in children. Methods. In all children (36 children with adhesive intestinal obstruction (main group) and 35 planned patients (comparative group)) the acetylation genotype was studied by detecting point mutations of the NAT-2 gene using allele-specific amplification method with analysis of apolymerase chain reaction-restrictionfragmentlengthpolymorphism. Results. The study of the frequency of mutations at position 481 revealed the greatest diversity of the studied variants of genotypes: 33.3% of the children of the main group were homozygous for the wild-type gene, 44.4% were heterozygotes, 22.2% of patients had a homozygous mutant gene. According to the NAT-2 * 6A genotype (G 590 - A), the majority of patients (55.6%) were heterozygotes, 44.4% were homozygotes with the wild-type of the gene. Not a single case of mutation at position 857 has been identified. Among the children of the main group, the share of «fast» acetylators was 69.4%, in the comparison group - 40.0% (χ2=6.215; p=0.013). The development of postoperative adhesive intestinal obstruction in children with the “fast” acetylation genotype occurred in the absence of clinical and anamnestic risk factors and was characterized by a greater severity and prevalence of intra-abdominal adhesive process (PAI was (14.8±1.8) and (8.1±2.4 ), respectively). Conclusion. The risk of developing postoperative adhesive complications in children can be done preventively by determining the genetic polymorphism of the N-acetyltransferase-2 gene. The risk group for developing adhesive intestinal obstruction is made up of children who are the carriers of NAT-2 alleles and correspond to the genotype of «fast» and «moderate» acetylation. Children who are «fast» acetylators have a more pronounced intra-abdominal adhesion process and a higher risk of complications associated with excessive adhesion even in the absence of other risk factors. What this paper adds N-acetyltransferase 2 (NAT2) gene polymorphism as a prognostic risk factor for the development of adhesive intestinal obstruction in children has been studied. Children as the carriers of the «fast» acetylator genotype have a higher risk of developing intra-abdominal adhesions and therefore require more comprehensive preventive measures at all stages of possible influence.
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来源期刊
Novosti Khirurgii
Novosti Khirurgii Medicine-Surgery
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