Yang Chia-Feng, Niu Dau-Ming, Jeng Mei-Jy, Lee Yu-Sheng, Taso Pei-Chen, Soong Wen-Jue
Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan.
Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan. Department of Pediatrics, School of Medicine, National Yang-Ming University, Taipei, Taiwan.
Respir Care. 2015 Feb;60(2):e26-9. doi: 10.4187/respcare.03419. Epub 2014 Oct 14.
Pompe disease is a rare autosomal recessive disorder caused by α-glucosidase deficiency. Lower airway involvement and management are rare in patients with late-onset Pompe disease. We describe the case of a 16-y-old girl with late-onset Pompe disease who presented with obvious progressive deterioration in respiratory function. Pulmonary hypertension was also apparent on echocardiography. She had been on enzyme replacement therapy and nighttime CPAP ventilation for several years. Flexible bronchoscopy was used for diagnosis and subsequent implantation of a bronchial airway stent. Following implantation of the stent, the patient's pulmonary function stabilized, and her pulmonary hypertension resolved. The patient continued on enzyme replacement therapy and nighttime CPAP ventilation. This case highlights that lower airway involvement may occur with late-onset Pompe disease and that flexible bronchoscopy can be an effective tool for both diagnosis and management of lower airway collapse in late-onset Pompe disease.
庞贝氏病是一种由α-葡萄糖苷酶缺乏引起的罕见常染色体隐性疾病。下呼吸道受累及管理在晚发型庞贝氏病患者中较为少见。我们描述了一名16岁晚发型庞贝氏病女孩的病例，该患者出现明显的进行性呼吸功能恶化。超声心动图检查也显示有肺动脉高压。她接受酶替代治疗和夜间持续气道正压通气已有数年。使用可弯曲支气管镜进行诊断，并随后植入支气管气道支架。支架植入后，患者的肺功能稳定，肺动脉高压消失。患者继续接受酶替代治疗和夜间持续气道正压通气。该病例突出表明，晚发型庞贝氏病可能会出现下呼吸道受累，且可弯曲支气管镜对于晚发型庞贝氏病下呼吸道塌陷的诊断和管理可能是一种有效的工具。
