Liu Edwin, Wolter-Warmerdam Kristine, Marmolejo Juana, Daniels Dee, Prince Garrett, Hickey Fran
Department of Pediatrics.
Children's Hospital Colorado, Aurora, CO.
J Pediatr Gastroenterol Nutr. 2020 Aug;71(2):252-256. doi: 10.1097/MPG.0000000000002742.
Children with Down syndrome have an estimated 6-fold increased risk of developing celiac disease in the United States compared with the general population, yet the determination to screen for celiac disease in this population is not agreed upon. The objectives of this study are to assess the prevalence of celiac disease in children with Down syndrome in our center and compare features from this population identified clinically and through screening.
This is a retrospective chart review of 1317 children with Down syndrome who received treatment at a single institution from 2011 to 2017. All participants (n = 90; 53.3% boys) met inclusion criteria of celiac disease diagnosis between 1 month and 22 years of age and Down syndrome. Clinical details were collected, which included the results from celiac disease screening tests, reason for diagnosis and/or testing, symptoms, nutrition notes, demographics, comorbidities, and outcomes.
Prevalence of celiac disease in our population of children with Down syndrome ages 3 years or older was 9.8%. Mean age at diagnosis was 9.24 years (SD = 4.98) with an average of 2.85 years (SD ± 3.52) lag from the onset of symptoms to diagnosis for children clinically identified in comparison with 1.69 years (SD ± 2.09) for children identified through routine screening. Eighty-two percentage of clinic patients received a diagnosis of celiac disease because of routine screening compared with clinical testing based on identified symptoms alone.
Our results suggest the need for routine celiac disease screening in children with Down syndrome to improve case-finding and avoid diagnostic delay.
在美国，与普通人群相比，唐氏综合征患儿患乳糜泻的风险估计高出6倍，但对于该人群中乳糜泻筛查的必要性尚未达成共识。本研究的目的是评估我们中心唐氏综合征患儿中乳糜泻的患病率，并比较通过临床诊断和筛查确定的该人群的特征。
这是一项对2011年至2017年在单一机构接受治疗的1317例唐氏综合征患儿进行的回顾性病历审查。所有参与者（n = 90；53.3%为男孩）均符合1个月至22岁之间乳糜泻诊断和唐氏综合征的纳入标准。收集了临床详细信息，包括乳糜泻筛查试验结果、诊断和/或检测原因、症状、营养记录、人口统计学、合并症和结局。
在我们中心3岁及以上的唐氏综合征患儿人群中，乳糜泻的患病率为9.8%。诊断时的平均年龄为9.24岁（标准差 = 4.98），临床确诊的患儿从症状出现到诊断的平均延迟时间为2.85年（标准差±3.52），而通过常规筛查确诊的患儿为1.69年（标准差±2.09）。82%的门诊患者因常规筛查而被诊断为乳糜泻，相比之下，仅基于已发现症状进行临床检测的患者比例较低。
我们的结果表明，有必要对唐氏综合征患儿进行常规乳糜泻筛查，以改善病例发现并避免诊断延迟。
