Cheng Heng, Yan Dewen, Zuo Xin, Liu Junying, Liu Wenlan, Zhang Youming
Department of Endocrinology, Xiangya-Shenzhen Endocrinology and Metabolism Center, the First Affiliated Hospital of Shenzhen University, Shenzhen, Guangdong Province, People's Republic of China.
Functional Genomics Group, Genomic Medicine Section, National Heart and Lung Institute, Faculty of Medicine, Imperial College London, London, UK.
Pharmacogenet Genomics. 2018 May;28(5):117-124. doi: 10.1097/FPC.0000000000000334.
Hyperuricemia and gout have become increasingly prevalent in China. Allopurinol is an effective urate-lowering therapy, but it has severe side effects. HLA-B*5801 is highly associated with the allopurinol-induced toxic epidermal necrolysis and Stevens-Johnson syndrome.
In this retrospective report, we had genotyped HLA-B*5801 in 253 cases of hyperuricemia and gout patients in a Han population in Shenzhen and analyzed the clinical management of medications.
We found 30 carriers of the HLA-B5801 allele in 253 cases of hyperuricemia or gout patients in the population (11.9%). Allopurinol was prescribed in both HLA-B5801-positive and HLA-B5801-negative groups. The evaluation of four models with or without genetic screening and management of allopurinol or febuxostat indicated that the HLA-B5801 screening had significant cost benefit for clinical management.
For appropriate management and cost-effectiveness, the HLA-B*5801 allele should be screened in all patients with hyperuricemia and gout in the Chinese population.
高尿酸血症和痛风在中国的患病率日益增加。别嘌醇是一种有效的降尿酸治疗药物，但具有严重的副作用。HLA - B*5801与别嘌醇诱导的中毒性表皮坏死松解症和史蒂文斯 - 约翰逊综合征高度相关。
在这份回顾性报告中，我们对深圳汉族人群中253例高尿酸血症和痛风患者进行了HLA - B*5801基因分型，并分析了药物的临床管理情况。
我们在该人群的253例高尿酸血症或痛风患者中发现了30例HLA - B5801等位基因携带者（11.9%）。HLA - B5801阳性组和阴性组均使用了别嘌醇。对四种采用或不采用基因筛查以及别嘌醇或非布司他管理模式的评估表明，HLA - B*5801筛查对临床管理具有显著的成本效益。
为了进行适当的管理并提高成本效益，在中国人群中，所有高尿酸血症和痛风患者均应进行HLA - B*5801等位基因筛查。
