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一名MTHFR C677T基因多态性纯合子儿童在接受大剂量甲氨蝶呤治疗后出现肾衰竭。

Renal failure after high-dose methotrexate in a child homozygous for MTHFR C677T polymorphism.

作者信息

Turello Rita, Rentsch Katharina, Di Paolo Ermindo, Popovic Maja Beck

机构信息

Pediatric Department, Hematology-Oncology Unit, University Hospital, 1011 Lausanne, Switzerland.

出版信息

Pediatr Blood Cancer. 2008 Jan;50(1):154-6. doi: 10.1002/pbc.21176.

Abstract

We report the case of an 11-year-old female treated for mediastinal T-cell lymphoma who presented renal failure following the second cycle of high-dose methotrexate (HDMTX). Because of life threatening plasma methotrexate (MTX) levels, carboxypeptidase G2 (CPDG2) was administered resulting in a dramatic decrease within 1 hr. The patient recovered from renal failure and no other side effects were observed. Homozygosity for the methylentetrahydrofolate reductase (MTHFR) C677T polymorphism diagnosed by molecular genetic analysis was the only explanation for this toxicity.

摘要

我们报告了一例11岁女性纵隔T细胞淋巴瘤患者,在接受高剂量甲氨蝶呤(HDMTX)第二个疗程后出现肾衰竭。由于血浆甲氨蝶呤(MTX)水平危及生命,给予了羧肽酶G2(CPDG2),1小时内MTX水平显著下降。患者从肾衰竭中康复,未观察到其他副作用。通过分子遗传学分析诊断出的亚甲基四氢叶酸还原酶(MTHFR)C677T多态性纯合子是这种毒性的唯一解释。

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