Prader-Willi综合征患儿睡眠呼吸障碍严重程度与通气功能损害之间的年龄依赖性分离

文献信息

中文摘要

引言： 睡眠呼吸障碍（SDB）在Prader-Willi综合征（PWS）患儿中高度普遍，涵盖中枢性、阻塞性和通气异常。然而，其纵向演变仍不完全清楚。
方法： 我们对经基因确诊的PWS患儿进行了一项回顾性纵向研究，这些患儿接受了连续呼吸体积描记法并同步进行经皮二氧化碳（TcCO₂）监测。采用线性混合效应模型分析临床特征、治疗干预和纵向呼吸参数。
结果： 共纳入29名儿童。SDB表现出年龄依赖性模式，中枢性呼吸异常在幼儿期占主导，而阻塞性事件在学龄前和学龄期更为突出。相比之下，夜间通气功能损害主要见于年龄较大的儿童和青少年。临床症状与ENT干预独立相关，而较高的体重指数与更需要无创通气相关，支持存在不同的阻塞性和通气表型。尽管未调整分析提示TcCO₂值随年龄增加，但调整后的混合效应模型表明，这种关系在很大程度上可由肥胖和治疗相关因素解释。
结论： PWS患儿的SDB似乎代表中枢性、阻塞性和通气异常不断演变的一个连续谱。仅常规呼吸暂停指数可能不足以反映通气功能损害，支持在标准呼吸事件指数之外对夜间气体交换进行纵向评估。

英文摘要

INTRODUCTION: Sleep-disordered breathing (SDB) is highly prevalent in children with Prader-Willi syndrome (PWS), encompassing central, obstructive, and ventilatory abnormalities. However, its longitudinal evolution remains incompletely understood.
METHODS: We conducted a retrospective longitudinal study of children with genetically confirmed PWS who underwent serial respiratory polygraphy with concurrent transcutaneous carbon dioxide (TcCO₂) monitoring. Clinical characteristics, therapeutic interventions, and longitudinal respiratory parameters were analyzed using linear mixed-effects models.
RESULTS: Twenty-nine children were included. SDB demonstrated an age-dependent pattern, with central respiratory abnormalities predominating in early childhood and obstructive events becoming more prominent during preschool and school age. In contrast, nocturnal ventilatory impairment was mainly observed in older children and adolescents. Clinical symptoms were independently associated with ENT intervention, whereas higher body mass index was associated with a greater likelihood of requiring non-invasive ventilation, supporting distinct obstructive and ventilatory phenotypes. Although unadjusted analyses suggested increasing TcCO₂ values with age, adjusted mixed-effects models indicated that this relationship was largely explained by obesity and treatment-related factors.
CONCLUSIONS: SDB in children with PWS appears to represent an evolving continuum of central, obstructive, and ventilatory abnormalities. Conventional apnea indices alone may not adequately reflect ventilatory impairment, supporting longitudinal assessment of nocturnal gas exchange in addition to standard respiratory event indices.