硫唑嘌呤致TPMT基因杂合突变型患者全血细胞减少1例  

Azathioprine induced leukopeniain a patient with TPMT heterozygous mutation genotype

作　　者：陈頔[1] 侯世芳[2] 金毅[3] 国红[2] 杨莉萍[1] 

机构地区：[1]北京医院,国家老年医学中心药学部,北京100730 [2]北京医院,国家老年医学中心神经内科,北京100730 [3]沈阳药科大学药学院,辽宁沈阳100016

出　　处：《临床药物治疗杂志》2017年第1期65-67,共3页Clinical Medication Journal

摘　　要：患者中年女性,因间断眼睑下垂、咀嚼及吞咽困难、四肢无力18年,加重4月入北京医院,诊断为重症肌无力。入院后予溴吡斯的明、硫唑嘌呤治疗。硫唑嘌呤采用逐渐加量至足量的方式给药。在使用第5天后开始出现白细胞下降,低至2.8×10~9/L。硫唑嘌呤甲基转移酶基因检测结果显示,为TPMT*1*3C杂合突变型,属易发生骨髓抑制的人群。临床药师建议,该患者在硫唑嘌呤逐渐加量期间出现全血细胞减少,且基因检测结果提示存在突变,易发生骨髓抑制,应停用硫唑嘌呤,换用其他治疗方案。临床接受建议,停用硫唑嘌呤,使用糖皮质激素进行免疫抑制治疗。One female patient was diagnosed with myasthenia gravis with intermittent ptosis, chewing and swallowing difficulties, limb weakness for 18 years.She was given the treatment by pyridostigmine and azathioprine. The dosage of azathioprine increased gradually to a sufficiem therapeutic dose. After the use of azathioprine,count of white blood cells began to decline on the fifth days as low as 2.8 × 109/L. TPMT gene test showed that the TPMT＊ 1/＊3C heterozygous mutation genotype, which is prone to bone marrow suppression. Clinical pharmacist suggested the discontinuation of azathioprine for this patient due to high risk of leukopeniawith TPMT＊1/＊3C genotype. Doctor accepted the proposal of discontinuation azathioprine, and then switched to glucocorticoid.

关 键 词：硫唑嘌呤 白细胞减少 硫唑嘌呤甲基转移酶 

分 类 号：R979.5[医药卫生—药品]