Specialist Neonatal and Paediatric Surgery, Great Ormond Street Hospital for Children, London, UK; Stem Cells and Regenerative Medicine Section, UCL-GOS Institute of Child Health, London, UK.
Department of Paediatric Surgery, New Children's Hospital, University of Helsinki and Helsinki University Hospital, Finland.
J Pediatr Surg. 2021 Sep;56(9):1502-1511. doi: 10.1016/j.jpedsurg.2021.01.043. Epub 2021 Feb 13.
Information is needed regarding the complex relationships between long-term functional outcomes and health-related quality of life (HRQoL) in Hirschsprung's Disease (HSCR). We describe long-term outcomes across multiple domains, completing a core outcome set through to adulthood.
HSCR patients operated at a single center over a 35-year period (1978-2013) were studied. Patients completed detailed questionnaires on bowel and urologic function, and HRQOL. Patients with learning disability (LD) were excluded. Outcomes were compared to normative data. Data are reported as median [IQR] or mean (SD).
186 patients (median age 28 [18-32] years; 135 males) completed surveys. Bowel function was reduced (BFS 17 [14-19] vs. 19 [19-20], p < 0•0001;η = 0•22). Prevalence and severity of fecal soiling and fecal awareness improved with age (p < 0•05 for both). Urinary incontinence was more frequent than controls, most of all in 13-26y females (65% vs. 31%,p = 0•003). In adults, this correlated independently with constipation symptoms (OR 3.18 [1.4-7.5],p = 0.008). HRQoL outcomes strongly correlated with functional outcome: 42% of children demonstrated clinically significant reductions in overall PedsQL score, and poor bowel outcome was strongly associated with impaired QOL (B = 22•7 [12•7-32•7],p < 0•001). In adults, GIQLI scores were more often impacted in patients with extended segment disease. SF-36 scores were reduced relative to population level data in most domains, with large effect sizes noted for females in General Health (g = 1.19) and Social Wellbeing (g = 0.8).
Functional impairment is common after pull-through, but bowel function improves with age. Clustering of poor functional outcomes across multiple domains identifies a need for early recognition and long-term support for these patients.
需要了解先天性巨结肠症（HSCR）长期功能结果与健康相关生活质量（HRQoL）之间的复杂关系。我们描述了多个领域的长期结果，并完成了贯穿成年期的核心结局集。
研究了在一家中心接受手术的 35 年期间（1978-2013 年）的 HSCR 患者。患者完成了关于肠道和泌尿系统功能以及 HRQoL 的详细问卷。有学习障碍（LD）的患者被排除在外。结果与标准数据进行了比较。数据以中位数[IQR]或平均值（SD）表示。
186 名患者（中位年龄 28[18-32]岁；135 名男性）完成了调查。肠道功能下降（BFS 17[14-19]与 19[19-20]，p<0•0001；η=0•22）。粪便污染和粪便意识的发生率和严重程度随年龄增长而改善（p<0•05）。尿失禁比对照组更常见，尤其是 13-26 岁的女性（65%比 31%，p=0•003）。在成年人中，这与便秘症状独立相关（OR 3.18[1.4-7.5]，p=0•008）。HRQoL 结果与功能结果密切相关：42%的儿童整体 PedsQL 评分显著降低，肠道功能不良与生活质量受损密切相关（B=22•7[12•7-32•7]，p<0•001）。在成年人中，广泛段疾病患者的 GIQLI 评分更常受到影响。SF-36 评分在大多数领域均低于人群水平数据，女性在总体健康（g=1.19）和社会福利（g=0.8）方面的效应量较大。
手术后功能障碍很常见，但肠道功能随年龄增长而改善。多个领域功能结果不良的聚类表明需要早期识别并为这些患者提供长期支持。
