Clinical and Molecular Genetics Unit, UCL Institute of Child Health and Great Ormond Street Hospital NHS Trust, 30 Guilford St, London WC1N 1EH, UK.
Arch Dis Child. 2010 Feb;95(2):153-5. doi: 10.1136/adc.2009.158220.
Three unrelated children from ethnically diverse backgrounds who were treated for acute leukaemia became profoundly and irreversibly deaf during treatment. Aminoglycoside levels were within the therapeutic range. Genetic testing showed all three to have a maternally inherited mutation of mitochondrial DNA, m.1555A>G, known to cause sensitivity to the ototoxic effects of aminoglycosides. One child has received a cochlear implant, and another will be implanted shortly. Children diagnosed with acute leukaemia should be tested for this mutation at diagnosis, and alternative antibiotics chosen for the treatment of sepsis. Consideration should be given to elective testing of other groups of patients likely to receive aminoglycosides.
三个来自不同种族背景的无关儿童在接受急性白血病治疗期间变得深度且不可逆转地耳聋。氨基糖苷类药物水平在治疗范围内。基因检测显示，这三个孩子都携带一种已知会导致对氨基糖苷类药物耳毒性敏感的线粒体 DNA m.1555A>G 的母系遗传突变。一个孩子已经接受了耳蜗植入，另一个孩子也将很快接受植入。诊断出患有急性白血病的儿童应在诊断时检测该突变，并选择用于治疗败血症的替代抗生素。应考虑对可能接受氨基糖苷类药物治疗的其他患者群体进行选择性检测。
