胸骨后巨大甲状腺肿合并Gitelman综合征患者的围手术期管理：一例病例报告

文献信息

中文摘要

背景： Gitelman综合征是一种由SLC12A3基因突变引起的常染色体隐性肾小管疾病，其致病机制为噻嗪类敏感性钠-氯共转运体功能受损。该病临床主要表现为低钾血症、低镁血症、代谢性碱中毒和低钙尿症。胸骨后巨大甲状腺肿多由结节性甲状腺肿增大并向下延伸至前纵隔所致，可能导致气管受压和移位。胸骨后巨大甲状腺肿合并Gitelman综合征的患者常出现严重电解质紊乱和困难气道风险，相关文献报道较为罕见。
病例总结： 本文报道一例75岁男性Gitelman综合征患者，因“胸骨后巨大甲状腺肿导致左侧喉返神经麻痹”拟行甲状腺切除术。实验室检查显示严重低钾血症、低镁血症、低钠血症、低氯血症和代谢性碱中毒。卧位高血压相关检查显示肾素活性显著升高。动态心电图提示频发房性早搏（>14,000次/24小时）。影像学显示左侧甲状腺叶巨大肿块（6.6 cm × 4.1 cm）延伸至纵隔，压迫气管和食管，伴右位主动脉弓畸形。经多学科会诊并积极纠正电解质紊乱后，患者在全身麻醉下成功接受左侧甲状腺全切除术+喉返神经探查术。关键管理要点包括：术前将电解质优化至安全阈值；避免使用延长QT间期和影响电解质平衡的药物；术中持续心电监测和电解质监测；制定困难气道方案。患者术后恢复良好，未出现心律失常等严重并发症。
结论： 胸骨后巨大甲状腺肿合并Gitelman综合征的围手术期管理极具挑战性。在本病例中，充分的术前评估、积极纠正电解质紊乱至安全阈值、合理选择麻醉药物、制定困难气道管理方案以及密切监测与良好的临床结局相关。

英文摘要

BACKGROUND: Gitelman syndrome is an autosomal recessive renal tubular disorder caused by mutations in the SLC12A3 gene, with the pathogenic mechanism being impaired function of the thiazide-sensitive sodium-chloride cotransporter. The disease is mainly characterized clinically by hypokalemia, hypomagnesemia, metabolic alkalosis, and hypocalciuria. Retrosternal giant goiter is mostly caused by nodular goiter enlarging and extending downward into the anterior mediastinum, which may lead to tracheal compression and displacement. Patients with retrosternal giant goiter complicated with Gitelman syndrome often present with severe electrolyte disturbances and risk of difficult airway, and relevant literature reports are relatively rare.
CASE SUMMARY: This article reports a 75-year-old male patient with Gitelman syndrome who was scheduled for thyroidectomy due to "retrosternal giant goiter causing left recurrent laryngeal nerve palsy." Laboratory examination revealed severe hypokalemia, hypomagnesemia, hyponatremia, hypochloremia, and metabolic alkalosis. The supine hypertension panel showed significantly elevated renin activity. Ambulatory electrocardiography suggested frequent premature atrial contractions (>14,000 beats/24 h). Imaging revealed a huge mass in the left thyroid lobe (6.6 cm × 4.1 cm) extending into the mediastinum, compressing the trachea and esophagus, with right-sided aortic arch deformity. After multidisciplinary consultation and active correction of electrolyte disturbances, the patient successfully underwent left total thyroidectomy + recurrent laryngeal nerve exploration under general anesthesia. Key management points included: preoperative optimization of electrolytes to safe thresholds; avoidance of drugs that prolong the QT interval and affect electrolyte balance; intraoperative continuous electrocardiographic monitoring and electrolyte monitoring; and formulation of a difficult airway plan. The patient recovered well postoperatively without serious complications such as arrhythmias.
CONCLUSION: The perioperative management of retrosternal giant goiter complicated with Gitelman syndrome is highly challenging. In this case, adequate preoperative assessment, active correction of electrolyte disturbances to safe thresholds, rational selection of anesthetic agents, formulation of a difficult airway management plan, and close monitoring were associated with a favorable clinical outcome.