Otorhinolaryngology, Sri Ramachandra Institute of Higher Education and Research (Deemed to be University), Chennai, Tamil Nadu, India.
ENT, Head and Neck Surgery, Sri Ramachandra University Medical College, Chennai, India
BMJ Case Rep. 2023 Sep 26;16(9):e254155. doi: 10.1136/bcr-2022-254155.
Bartter's syndrome (BS) is a rare group of hereditary salt losing tubulopathies due to impairment of renal transport mechanism. Herein, we report a boy in early childhood who was diagnosed to have infantile Bartter's syndrome. Laboratory investigations revealed hypokalaemia and metabolic alkalosis which was managed with oral potassium chloride supplementation. The inner ear showed no anatomical abnormalities. Sequential cochlear implantation was performed 4 months apart. Postoperative electrical stimulation yielded good response and a symmetric mapping. The patient was on regular audio-verbal therapy. Cognitive impairment improved over time. Bilateral cochlear implantation showed excellent auditory outcomes.
巴特氏综合征(BS)是一组罕见的遗传性盐丢失性肾小管病,由于肾脏转运机制受损。本文报告了一名幼儿期被诊断为婴儿巴特氏综合征的患儿。实验室检查显示低钾血症和代谢性碱中毒,采用口服氯化钾补充治疗。内耳无解剖异常。相隔 4 个月进行了序贯人工耳蜗植入术。术后电刺激反应良好,呈对称映射。患者定期接受听觉言语治疗。认知障碍随时间推移而改善。双侧人工耳蜗植入术取得了良好的听觉效果。