硫唑嘌呤致NUDT15杂合突变天疱疮患者骨髓抑制一例  

Azathioprine？induced myelosuppression in a pemphigus patient with a heterozygous mutation in the NUDT15 gene

作　　者：王莲[1] 周燕虹[2] 周兴丽[1] 吕小岩[1] 曾昕[3] 李薇[1] 

机构地区：[1]四川大学华西医院皮肤科,成都610041 [2]四川大学华西医院实验医学科,成都610041 [3]四川大学华西口腔医院黏膜科

出　　处：《中华皮肤科杂志》2017年第12期912-914,共3页Chinese Journal of Dermatology

基　　金：教育部回国人员科研启动基金（2015-1098-5-2）

摘　　要：患者男，49岁，因口腔反复糜烂1年，加重伴皮肤红斑、水疱1个月就诊。结合组织病理和天疱疮抗体检查，确诊为寻常型天疱疮。予泼尼松联合硫唑嘌呤治疗1个月后，白细胞计数和中性分叶核粒细胞计数下降，停用硫唑嘌呤，予重组人粒细胞刺激因子注射液150 μg皮下注射1次后，白细胞计数恢复正常。硫唑嘌呤用药相关基因分型检测示，NUDT15（JZ274）杂合突变型，TPMT＊2、TPMT＊3C、ITPA均为野生纯合型。诊断：硫唑嘌呤致骨髓抑制。A 49-year-old male patient presented with repeated oral erosions for 1 year, as well as cutaneous erythema and blisters for 1 month. According to histopathological examination and detection of specific antibodies of pemphigus, the patient was diagnosed with pemphigus vulgaris. After the treatment with oral prednisone and azathioprine for 1 month, the white blood cell count and segmented neutrophilic granulocyte count both decreased. After withdrawal of azathioprine, the patient was subcutaneously injected with 150 μg recombinant human granulocyte colony-stimulating factor for 1 session. Then, the white blood cell count became normal. Genotyping test revealed that the patient carried a heterozygous mutation in the NUDT15 gene（JZ274）, and was homozygous for wild-type TPMT＊2, TPMT＊3C and ITPA genes. The patient was diagnosed with azathioprine-induced myelosuppression.

关 键 词：硫唑嘌呤 天疱疮 杂合子 骨髓 NUDT15 

分 类 号：R758.66[医药卫生—皮肤病学与性病学]