Samantha Medwid, Rowan Deckert, Steven E Gryn, Richard B Kim
{"title":"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。","authors":"Samantha Medwid, Rowan Deckert, Steven E Gryn, Richard B Kim","doi":"10.1111/bcp.16329","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":3,"journal":{"name":"ACS Applied Electronic Materials","volume":null,"pages":null},"PeriodicalIF":4.3000,"publicationDate":"2024-11-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"SLCO1B1 variants in a patient of African ancestry presenting with rosuvastatin-induced rhabdomyolysis: A case report.\",\"authors\":\"Samantha Medwid, Rowan Deckert, Steven E Gryn, Richard B Kim\",\"doi\":\"10.1111/bcp.16329\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>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.</p>\",\"PeriodicalId\":3,\"journal\":{\"name\":\"ACS Applied Electronic Materials\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":4.3000,\"publicationDate\":\"2024-11-07\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"ACS Applied Electronic Materials\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1111/bcp.16329\",\"RegionNum\":3,\"RegionCategory\":\"材料科学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"ENGINEERING, ELECTRICAL & ELECTRONIC\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"ACS Applied Electronic Materials","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1111/bcp.16329","RegionNum":3,"RegionCategory":"材料科学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"ENGINEERING, ELECTRICAL & ELECTRONIC","Score":null,"Total":0}
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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