炎症性肠病患者巯基嘌啉甲基转移酶基因型检测与硫唑嘌啉安全性分析

目的初步探讨炎症性肠病(IBD)患者巯基嘌啉甲基转移酶(TPMT)基因突变情况,了解硫唑嘌啉的不良反应。方法对30例我院住院IBD患者TPMT*3C基因型通过基因PCR扩增、基因测序的方法进行检测,其中10例患者给予硫唑嘌啉1～2 mg/kg.d-1剂量口服。结果 30例患者TPMT*3C基因型均为野生型,未发现基因突变,2例发生不良反应。结论 TPMT*3C在IBD中突变率较低;应用硫唑嘌啉需严密观察其不良反应。

Analysis of Thiopurine S-methyltransferase Genotype and Azathioprine Safety in Patients with Inflammatory Bowel Disease

Objective To investigate the thiopurine S-methyltransferase(TPMT) genotype and azathioprine-related adverse drug reactions in patients with inflammatory bowel disease(IBD).Methods 30 patient with IBD in our hospital were enrolled,and TPMT*3C genotype was detected by PCR and sequencing.10 out of 30 patients were treated with azathioprine 1.0~2.0 mg/kg·d-1.Results All patients TPMT*3C genotype were wild genotype,no mutation was detected.Azathioprine toxicity occurred in 2 patients.Conclusion The mutation rate of TPMT*3C is lower and it is necessary to monitor azathioprine toxicity among trentment.