De Vuyst Richard, Jalazo Elizabeth, Tsujimoto Tamy Moraes, Lin Feng-Chang, Muenzer Joseph, Muhlebach Marianne S
Department of Pediatrics, University of North Carolina, Chapel Hill, NC 27599, USA.
Department of Biostatistics, UNC Gillings School of Global Public Health, Chapel Hill, NC 27599, USA.
J Clin Med. 2023 Jan 6;12(2):480. doi: 10.3390/jcm12020480.
People with Hunter syndrome are known to be affected by a variety of airway pathologies. Treatment of Hunter syndrome with the enzyme replacement therapy (ERT) idursulfase is now the standard of care. However, it is not known how ERT changes the progression of airway involvement. To evaluate this, we performed a retrospective analysis of bronchoscopies performed on children with Hunter syndrome who were part of intrathecal ERT trials. Findings for airway pathology were extracted from bronchoscopy reports and analyses were performed for cross-sectional and longitudinal changes in airway disease. One-hundred and thirty bronchoscopies from 23 subjects were analyzed. Upper airway disease (adenoid hypertrophy and/or pharyngomalacia) was reported in 93% and 87% of bronchoscopies, respectively. Laryngeal abnormalities were recognized in 46% of cases. There were lower airway (tracheal and or bronchial) findings in 64% of all bronchoscopies and prevalence increased with age. Evaluations over time adjusted for repeat evaluations showed that increasing airway involvement was associated with older age ( = 0.0007) despite ongoing ERT. No association was discovered between age of intravenous ERT initiation and progression of airway disease. Individuals with Hunter syndrome who are receiving intravenous enzyme replacement therapy showed the progression of airways disease supporting the need for regular airway monitoring and intervention.
已知患有亨特综合征的人会受到多种气道病变的影响。用酶替代疗法（ERT）艾杜糖醛酸酶治疗亨特综合征现已成为标准治疗方法。然而，尚不清楚ERT如何改变气道受累的进展。为了评估这一点，我们对参与鞘内ERT试验的亨特综合征患儿进行的支气管镜检查进行了回顾性分析。从支气管镜检查报告中提取气道病理学的结果，并对气道疾病的横断面和纵向变化进行分析。分析了来自23名受试者的130次支气管镜检查。分别在93%和87%的支气管镜检查中报告了上气道疾病（腺样体肥大和/或喉软化）。46%的病例发现有喉部异常。在所有支气管镜检查中，64%发现有下气道（气管和/或支气管）病变，且患病率随年龄增加。对重复评估进行时间调整后的评估显示，尽管进行了ERT治疗，但气道受累增加与年龄较大有关（P = 0.0007）。静脉内ERT开始的年龄与气道疾病的进展之间未发现关联。接受静脉内酶替代疗法的亨特综合征患者显示出气道疾病的进展，这支持了定期进行气道监测和干预的必要性。
