PDF(Pubmed)
Abstract：
Idiosyncratic drug-induced liver injury (DILI) is a complex multifactorial disease in which the toxic potential of the drug, together with genetic and acquired factors and deficiencies in adaptive processes, which limit the extent of damage, may determine susceptibility and make individuals unique in their development of hepatotoxicity. In our study, we sequenced the exomes of 43 pediatric patients diagnosed with DILI to identify important gene variations associated with this pathology. The result showed the presence of two variations in the NAT2 gene: c.590G>A (p.Arg197Gln) and c.341T>C (p.Ile114Thr). These variations could be found separately or together in 41 of the 43 patients studied. The presence of these variations as a risk factor for DILI could confirm the importance of the acetylation pathway in drug metabolism.
摘要：
特异性药物性肝损伤（DILI）是一种复杂的多因素疾病，其中药物的毒性潜力，连同遗传和后天因素以及适应过程中的缺陷，限制了损坏的程度，可以确定易感性，并使个体在肝毒性的发展中具有独特性。在我们的研究中,我们对43例诊断为DILI的儿科患者的外显子组进行了测序,以鉴定与该病理相关的重要基因变异.结果显示NAT2基因存在两个变异：c.590G>A（p。Arg197Gln）和c.341T>C（p。Ile114Thr）。这些变化可以在研究的43例患者中的41例单独或一起发现。这些变异作为DILI的危险因素的存在可以证实乙酰化途径在药物代谢中的重要性。
