■粘多糖贮积症(MPS)IVA型是一种罕见的,常染色体隐性溶酶体贮积病引起各种器官和组织中底物积累。MPSIVA与阻塞性和限制性气道疾病相关,前者常导致睡眠呼吸紊乱(SDB)。呼吸衰竭是这种情况下死亡的主要原因。这项研究的目的是对MPSIVA患者的长期呼吸变化进行表征和分类,或者没有,酶替代疗法(ERT)。
■在这次回顾中,纵向,重复测量队列研究,对人口学进行描述性统计和非参数相关性,2009年1月至2018年12月研究期间的呼吸功能和血氧饱和度变量.本研究中用于评估肺功能的复合临床终点包括肺活量测定变量(FEV1,FEV1[%Pred]FVC,FVC[%Pred]和FEV1/FVC),血氧定量变量(中位数%Spo2,ODI3%,平均最低点3%,ODI4%,平均最低点4%和mindipSpO2[%])和6MWT以评估功能运动能力,从而整合心肺功能。
■收集16例患者的序贯肺活量和血氧测定值,其中13/16为ERT治疗。总的来说,在研究期间,所有受试者的静态肺活量测定值都在全球范围内下降,以及6MWT评估的心肺功能,ERT组的下降被推迟。随着时间的推移,ERT组的血氧含量变化较小,而非ERT组下降。FEV1、FVC[%预测]和ODI3%表现出强劲的,组合正相关(r0.74-95%CI0.61至0.83;p<0.0001)。ERT组无创通气(NIV)和腺样体扁桃体切除术更有效,改善肺功能或减轻恶化。
■虽然所有组的肺活量测定值都在逐渐下降,血氧饱和度显示呼吸功能有适度改善.FEV1、FVC[%预测]和ODI3%的合并似乎预示了本研究中呼吸功能的变化,提示是监测疾病进展以及指导MPSIVA患者对ERT的反应的复合终点。
UNASSIGNED: Mucopolysaccharidosis (MPS) type IVA is a rare, autosomal recessive lysosomal storage disease causing substrate accumulation in various organs and tissues. MPS IVA is associated with both obstructive and restrictive airway disease, with the former often resulting in sleep disordered breathing (SDB). Respiratory failure is a primary cause of death in this condition. The aim of this study was to characterise and catalogue the long-term respiratory changes in patients with MPS IVA treated with, or without, enzyme replacement therapy (ERT).
UNASSIGNED: In this retrospective, longitudinal, repeated-measures cohort study, descriptive statistics and non-parametric correlation were performed for demographic, respiratory function and oximetry variables over a study period from January 2009 to December 2018. Composite clinical endpoints used in this study for evaluating pulmonary function included spirometry variables (FEV1, FEV1 [%Pred] FVC, FVC [%Pred] and FEV1/FVC), oximetry variables (median %Spo2, ODI 3%, mean nadir 3%, ODI 4%, mean nadir 4% and min dip SpO2 [%]) and 6MWT to assess functional exercise capacity and thus integrated cardiopulmonary function.
UNASSIGNED: Sequential spirometry and oximetry values were collected from 16 patients, of which 13/16 were ERT treated. In general, during the study period there was a global reduction in static spirometry values in all subjects, as well as cardiorespiratory function as assessed by the 6MWT, with the decline being delayed in the ERT group. Oximetry changed to a minor degree over time in the ERT group, whereas it declined in the non-ERT group. FEV1, FVC [%predicted] and ODI 3% exhibited a strong, combined positive correlation (r 0.74-95% CI 0.61 to 0.83; p < .0001). Non-invasive ventilation (NIV) and adenotonsillectomy appeared more effective in the ERT group, either improving pulmonary function or attenuating deterioration.
UNASSIGNED: Whilst spirometry values showed a gradual decline across all groups, oximetry showed modest improvement in respiratory function. The amalgamation of FEV1, FVC [%predicted] and ODI 3% appeared predictive of changes in respiratory function in this study, suggestive as being composite endpoints for monitoring disease progression as well as guiding response to ERT in MPS IVA patients.