中华皮肤科杂志 ›› 2017, Vol. 50 ›› Issue (12): 912-914.doi: 10.3760/cma.j.issn.0412-4030.2017.12.012

• 研究报道 • 上一篇    下一篇

硫唑嘌呤致NUDT15杂合突变天疱疮患者骨髓抑制一例

王莲    周燕虹    周兴丽    吕小岩    曾昕    李薇   

  1. 610041 成都,四川大学华西医院皮肤科(王莲、周兴丽、吕小岩、李薇),实验医学科(周燕虹);四川大学华西口腔医院黏膜科(曾昕)
  • 收稿日期:2016-11-10 修回日期:2016-12-08 出版日期:2017-12-15 发布日期:2017-11-30
  • 通讯作者: 李薇 E-mail:liwei@mcwcums.com
  • 基金资助:
    教育部回国人员科研启动基金

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

Wang Lian, Zhou Yanhong, Zhou Xingli, Lyu Xiaoyan, Zeng Xin, Li Wei   

  1. Department of Dermatology, West China Hospital, Sichuan University, Chengdu 610041, China (Wang L, Zhou XL, Lyu XY, Li W); Department of Laboratory Medicine, West China Hospital, Sichuan University, Chengdu 610041, China(Zhou YH); Department of Oral Mucosal Diseases, West China Hospital of Stomatology, Sichuan University, Chengdu 610041, China (Zeng X)
  • Received:2016-11-10 Revised:2016-12-08 Online:2017-12-15 Published:2017-11-30
  • Supported by:
    Scientific Research Foundation for the Returned Overseas Chinese Scholars of Ministry of Education of China

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。

Abstract: Wang Lian, Zhou Yanhong, Zhou Xingli, Lyu Xiaoyan, Zeng Xin, Li Wei Department of Dermatology, West China Hospital, Sichuan University, Chengdu 610041, China (Wang L, Zhou XL, Lyu XY, Li W); Department of Laboratory Medicine, West China Hospital, Sichuan University, Chengdu 610041, China(Zhou YH); Department of Oral Mucosal Diseases, West China Hospital of Stomatology, Sichuan University, Chengdu 610041, China (Zeng X) Corresponding author: Li Wei, Email: liwei@mcwcums.com 【Abstract】 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.