Respiratory outcomes in Mucopolysaccharidosis Type I (MPS I), have mainly focused on upper airway obstruction, with the evolution of the restrictive lung disease being poorly documented. We report the long-term pulmonary function outcomes and examine the potential factors affecting these in 2 cohorts of MPS I patients, those who have undergone Haematopoietic Stem Cell Transplantation (HSCT) and those treated with Enzyme Replacement Therapy (ERT). The results were stratified using the American Thoracic Society (ATS) guidelines. 66 patients, capable of adequately performing testing, were identified by a retrospective case note review, 46 transplanted (45 Hurler, 1 Non-Hurler) and 20 having ERT (17 Non-Hurler and 3 Hurler diagnosed too late for HSCT). 5 patients died; 4 in the ERT group including the 3 Hurler patients. Overall 14% of patients required respiratory support (non-invasive ventilation (NIV) or supplemental oxygen)) at the end of follow up. Median length of follow-up was 12.2 (range = 4.9–32) years post HSCT and 14.34 (range = 3.89–20.4) years on ERT. All patients had restrictive lung disease. Cobb angle and male sex were significantly associated with more severe outcomes in the HSCT cohort, with 49% having severe to very severe disease. In the 17 Non-Hurler ERT treated patients there was no variable predictive of severity of disease with 59% having severe to very severe disease. During the course of follow up 67% of the HSCT cohort had no change or improved pulmonary function as did 52% of the ERT patients. However, direct comparison between therapeutic modalities was not possible. This initial evidence would suggest that a degree of restrictive lung disease is present in all treated paediatrically diagnosed MPS I and is still a significant cause of morbidity, though further stratification incorporating diffusing capacity for carbon monoxide (DLCO) is needed.

I 型粘多糖贮积症 (MPS I) 的呼吸结果主要集中在上气道阻塞，限制性肺病的演变记录很少。我们报告了长期肺功能结果，并在 2 组 MPS I 患者中检查了影响这些结果的潜在因素，这些患者接受了造血干细胞移植 (HSCT) 和酶替代疗法 (ERT)。使用美国胸科学会 (ATS) 指南对结果进行分层。通过回顾性病例报告审查确定了 66 名能够充分进行测试的患者，其中 46 名移植（45 名 Hurler，1 名非 Hurler）和 20 名患有 ERT（17 名非 Hurler 和 3 名 Hurler 诊断为 HSCT 太晚）。5名患者死亡；ERT 组中有 4 名患者，包括 3 名 Hurler 患者。在随访结束时，总共有 14% 的患者需要呼吸支持（无创通气 (NIV) 或补充氧气））。HSCT 后的中位随访时间为 12.2（范围 = 4.9-32）年，ERT 为 14.34（范围 = 3.89-20.4）年。所有患者均患有限制性肺病。Cobb 角和男性与 HSCT 队列中更严重的结果显着相关，49% 的人患有严重至非常严重的疾病。在 17 名非 Hurler ERT 治疗的患者中，没有预测疾病严重程度的变量，59% 的患者患有严重至非常严重的疾病。在随访过程中，67% 的 HSCT 队列和 52% 的 ERT 患者一样，肺功能没有变化或改善。然而，治疗方式之间的直接比较是不可能的。