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夏威夷菲律宾患者中人类白细胞抗原(HLA)-B*58:01的流行率及别嘌醇诱导的不良反应:基因分型的意义

Prevalence of Human Leukocyte Antigen (HLA)-B*58:01 and Allopurinol-Induced Adverse Reactions in Filipino Patients in Hawai'i: Implications for Genotyping.

作者信息

Terashima Rika, Medina Alejandro Jude P, Del Mundo Hans Jesper F, Briones Ryan Sean S, Aquino Joseph Arman B, Quiminiano Ellaine M, Sin Yuh Miin, Bautista Rhea A, Sonido Charlie Y, Yamada Seiji

机构信息

Primary Care Clinic of Hawaii, Waipahu, Hawaii, USA.

Department of Epidemiology and Population Health, Stanford University School of Medicine, Stanford, California, USA.

出版信息

Int J Rheum Dis. 2025 Feb;28(2):e70127. doi: 10.1111/1756-185X.70127.

Abstract

INTRODUCTION

Allopurinol, a first-line treatment for gout and hyperuricemia, is associated with severe cutaneous adverse reactions (SCAR) in individuals carrying the HLA-B58:01 allele. Genotyping is conditionally recommended in Han Chinese, Korean, and Thai populations with an allele prevalence of 7.4%, and in African Americans at 3.8%. The prevalence in Filipino patients has not been studied. We investigate the prevalence of HLA-B58:01 among Filipino patients in Hawai'i and evaluate the incidence of allopurinol-induced adverse reactions following genotyping.

METHODS

We conducted a retrospective chart review of 312 patients who underwent HLA-B58:01 genotyping at a primary care clinic in Hawai'i between November 2021 and July 2024. After excluding patients with missing ethnicity data, non-Filipino ethnicity, or prior allopurinol use, 237 Filipino patients were included in the analysis. The prevalence of the HLA-B58:01 allele and the incidence of allopurinol-induced adverse reactions were calculated.

RESULTS

Among the 237 Filipino patients, 17 (7.2%) were HLA-B*58:01 positive. A total of 97 patients were started on allopurinol after genotyping and 1 (1.0%) developed mild cutaneous reactions, 0 (0%) developed SCAR, and 2 (2.1%) experienced gastrointestinal symptoms (nausea and diarrhea).

CONCLUSION

The high prevalence of HLA-B58:01 allele among Filipino patients in Hawai'i suggests that genotyping may be considered before initiating allopurinol treatment. Given no instances of SCAR were observed in patients who were administered allopurinol after undergoing HLA-B58:01 genotyping, genotyping may play a crucial role in reducing the risk of allopurinol-induced SCAR in this population. Further studies with larger cohorts are suggested to confirm our findings and assess broader clinical utility of genotyping.

摘要

引言

别嘌醇是痛风和高尿酸血症的一线治疗药物,在携带HLA - B58:01等位基因的个体中与严重皮肤不良反应(SCAR)相关。在中国汉族、韩国和泰国人群中,等位基因流行率为7.4%,在非裔美国人中为3.8%,因此有条件地建议进行基因分型。菲律宾患者中的流行率尚未研究。我们调查了夏威夷菲律宾患者中HLA - B58:01的流行率,并评估基因分型后别嘌醇引起的不良反应发生率。

方法

我们对2021年11月至2024年7月期间在夏威夷一家初级保健诊所接受HLA - B58:01基因分型的312例患者进行了回顾性病历审查。在排除种族数据缺失、非菲律宾种族或既往使用过别嘌醇的患者后,237例菲律宾患者纳入分析。计算HLA - B58:01等位基因的流行率和别嘌醇引起的不良反应发生率。

结果

在237例菲律宾患者中,17例(7.2%)HLA - B*58:01呈阳性。基因分型后共有97例患者开始使用别嘌醇,其中1例(1.0%)出现轻度皮肤反应,0例(0%)出现严重皮肤不良反应,2例(2.1%)出现胃肠道症状(恶心和腹泻)。

结论

夏威夷菲律宾患者中HLA - B58:01等位基因的高流行率表明,在开始别嘌醇治疗前可考虑进行基因分型。鉴于在接受HLA - B58:01基因分型后使用别嘌醇的患者中未观察到严重皮肤不良反应的病例,基因分型可能在降低该人群中别嘌醇引起的严重皮肤不良反应风险方面发挥关键作用。建议进行更大样本量的进一步研究以证实我们的发现并评估基因分型更广泛的临床应用价值。

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