Lavu Alekhya, Thiriveedi Sneha, Thomas Levin, Khera Kanav, Saravu Kavitha, Rao Mahadev
Manipal Academy of Higher Education, Manipal, Karnataka, India.
Hosp Pharm. 2021 Dec;56(6):660-663. doi: 10.1177/0018578720934972. Epub 2020 Jun 13.
A 28-year-old male reported to our hospital with Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) overlap syndrome that developed as an adverse drug reaction (ADR) to allopurinol. allele is associated with an increased risk of developing allopurinol-induced SJS/TEN. Genomic DNA was extracted from peripheral blood leukocytes. DNA sequencing was done using SANGER sequencing method. Pharmacogenetic testing results revealed positive for allele. Symptoms of the patient receded after allopurinol withdrawal. The thrust of personalized therapy is from decoding the individual specific genetic variations astutely for better therapeutic outcomes such as reducing the ADRs. Pharmacogenetic testing is emerging as a safe, fast, and economic screening tool for personalized therapy by preventing ADRs. Pharmacogenetic allele testing before allopurinol administration could significantly reduce the incidence of SJS/TEN and associated mortalities/morbidities and thereby represent a potential cost-effective intervention.
一名28岁男性因对别嘌醇发生药物不良反应（ADR）而出现史蒂文斯-约翰逊综合征/中毒性表皮坏死松解症（SJS/TEN）重叠综合征，前来我院就诊。等位基因与别嘌醇诱导的SJS/TEN发生风险增加有关。从外周血白细胞中提取基因组DNA。采用桑格测序法进行DNA测序。药物遗传学检测结果显示等位基因呈阳性。停用别嘌醇后，患者症状消退。个性化治疗的重点在于敏锐地解码个体特定的基因变异，以获得更好的治疗效果，如减少ADR。药物遗传学检测正成为一种安全、快速且经济的筛查工具，可通过预防ADR实现个性化治疗。在使用别嘌醇前进行药物遗传学等位基因检测可显著降低SJS/TEN的发生率及相关死亡率/发病率，从而成为一种潜在的具有成本效益的干预措施。
