Allergy and Immunology, Ann and Robert H Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.
Otorhinolaryngology, Ann and Robert H Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.
BMJ Case Rep. 2022 Jun 22;15(6):e249191. doi: 10.1136/bcr-2022-249191.
Tocilizumab is reported to reduce systemic inflammation in individuals with SLC29A3 spectrum disorder, but its effect on hearing loss has not been described. The authors present a boy toddler with a history of prematurity, dysphagia, hypersplenism, hyperpigmentation, short height and hearing loss who was referred to the immunology clinic. He initially presented shortly after birth with abnormal hearing screens followed by positive urine test for cytomegalovirus. However, the infection was determined to be postnatally acquired and hearing loss most likely from genetic causes given a family history of hearing loss and consanguinity. A pathogenic variant in was found on whole-exome sequencing and given concern for SLC29A3 spectrum disorder, steroids were started. Following concerns for development of side effects with chronic steroid use, he was switched to interleukin 6 inhibitor therapy. The patient's inflammatory markers decreased on tocilizumab, and his sensorineural hearing loss was notable for improvement and stabilisation on therapy.
托珠单抗据报道可降低 SLC29A3 谱障碍个体的全身炎症，但尚未描述其对听力损失的影响。作者报告了一名男幼童，有早产儿、吞咽困难、脾功能亢进、色素沉着过度、身材矮小和听力损失的病史，被转至免疫科就诊。他出生后不久即出现听力筛查异常，随后尿液巨细胞病毒检测呈阳性。然而，感染被确定为后天获得，听力损失最有可能是遗传原因所致，因为有听力损失和近亲结婚的家族史。全外显子组测序发现了 中的致病性变异，考虑到 SLC29A3 谱障碍，开始使用类固醇。由于担心长期使用类固醇会产生副作用，他转而接受白细胞介素 6 抑制剂治疗。托珠单抗使患者的炎症标志物降低，他的感觉神经性听力损失在治疗后显著改善和稳定。
