一名出现罗伐他汀诱发横纹肌溶解症的非洲裔患者体内的 SLCO1B1 变异:病例报告。

IF 4.3 3区 材料科学 Q1 ENGINEERING, ELECTRICAL & ELECTRONIC ACS Applied Electronic Materials Pub Date : 2024-11-07 DOI:10.1111/bcp.16329
Samantha Medwid, Rowan Deckert, Steven E Gryn, Richard B Kim
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引用次数: 0

摘要

我们报告了一例非洲裔成年女性因他汀类药物诱发横纹肌溶解而住院治疗的病例。患者在开始每天服用 40 毫克罗伐他汀 1 个月后,因肌肉疼痛加重、恶心、呕吐和口服量少而到急诊室就诊,病史长达 2 周。SLCO1B1 编码区的测序结果显示,该患者是两个 SLCO1B1 致畸变异体(c.481+1G>T 和 c.1463G>C (*9))的杂合子,这两个变异体在非洲裔患者中更为常见。这凸显了对 SLCO1B1 进行药物基因检测的重要性,其中包括对非洲裔患者进行更广泛的基因变异检测。
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SLCO1B1 variants in a patient of African ancestry presenting with rosuvastatin-induced rhabdomyolysis: A case report.

We report a case of an adult woman of African ancestry who was hospitalized with statin induced- rhabdomyolysis. The patient presented to the emergency room with a 2-week history of worsening muscle pain, nausea, vomiting and low oral intake, 1 month after starting 40 mg daily dose of rosuvastatin. Sequencing of SLCO1B1 coding regions revealed the patient was heterozygous for two SLCO1B1 deleterious variants, c.481+1G>T and c.1463G>C (*9), which are more prevalent in patients of African ancestry. This highlights the importance of pharmacogenetic testing in SLCO1B1, which includes a broader range of genetic variants for patients of African ancestry.

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CiteScore
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4.30%
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