TLDR A woman experienced severe side effects from a drug due to a specific genetic variation, suggesting genetic testing could prevent such risks.
This case report described a 37-year-old woman who experienced azathioprine-induced agranulocytosis and severe alopecia after a kidney transplant, which was linked to a NUDT15 polymorphism (rs116855232, p.Arg139Cys). The patient had stable renal function post-transplant and was on a triple-immunosuppressant regimen. The NUDT15 polymorphism was identified through genome-wide correlation analysis, marking this as the first reported case of such adverse effects in a kidney transplant patient with this genetic variant.
86 citations
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November 2015 in “Journal of Gastroenterology” The NUDT15 R139C variant causes thiopurine-induced leukocytopenia through a different mechanism than previously thought in Japanese patients with inflammatory bowel disease.
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August 2021 in “Clinical Case Reports” Genetic testing is crucial before giving azathioprine to avoid severe side effects.
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