Richard Vijay Samuel, Al-Ismail Deana, Salamat Ahmed
Department of Haematology, Singleton Hospital, Swansea, UK.
Hematology. 2007 Aug;12(4):359-60. doi: 10.1080/10245330701283959.
Thiopurine methyltransferase (TPMT) is the main enzyme responsible for inactivating toxic products of azathioprine (AZA) metabolism. Patients with homozygous deficiency of this enzyme have no enzyme activity and ideally should not be given AZA. Patients with heterozygous deficiency have 50% of enzyme activity and have been shown to respond well and tolerate half a standard dose. We describe a patient with homozygous deficiency of TPMT who developed life threatening neutropenic sepsis, and advocate that all patients should be tested for TPMT activity prior to starting AZA therapy.
硫嘌呤甲基转移酶（TPMT）是负责使硫唑嘌呤（AZA）代谢产生的有毒产物失活的主要酶。该酶纯合缺陷的患者没有酶活性，理论上不应给予AZA。杂合缺陷的患者有50%的酶活性，且已证明对减半标准剂量反应良好且耐受性良好。我们描述了一名TPMT纯合缺陷的患者，该患者发生了危及生命的中性粒细胞减少性败血症，并主张所有患者在开始AZA治疗前都应进行TPMT活性检测。
