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唐氏综合征中的喂养问题和胃肠道疾病。

Feeding problems and gastrointestinal diseases in Down syndrome.

作者信息

Ravel A, Mircher C, Rebillat A-S, Cieuta-Walti C, Megarbane A

机构信息

Institut Jerome-Lejeune, 37, rue des Volontaires, 75725 Paris cedex 15, France.

Institut Jerome-Lejeune, 37, rue des Volontaires, 75725 Paris cedex 15, France.

出版信息

Arch Pediatr. 2020 Jan;27(1):53-60. doi: 10.1016/j.arcped.2019.11.008. Epub 2019 Nov 26.

Abstract

BACKGROUND AND METHOD

Feeding problems and gastrointestinal disorders are the most common anomalies in people with Down syndrome (DS) and have a significant impact on their daily life. This study lists the various anomalies on the basis of 504 references selected from a PubMed search in October 2018.

RESULTS

The anomalies are grouped into three categories: anatomical anomalies: duodenal atresia and stenosis (3.9%), duodenal web and annular pancreas; aberrant right subclavian artery (12% of children with DS with cardiac anomaly); Hirschsprung's disease (2.76%); anorectal malformation (1.16%); congenital vascular malformations of the liver; orofacial cleft, bifid uvula (4.63%), and submucous orofacial cleft; esophageal atresia (0.5-0.9%); pyloric stenosis (0.3%); diaphragmatic hernia; malrotation of small intestine or duodenum inversum; omphalocele, gastroschisis or anomalies of the median line, anomalies of the umbilical vein; biological, immunological, and infectious anomalies: neonatal cholestasis (3.9%); neonatal hepatic fibrosis; Helicobacter pylori infection (75.8% in institutionalized children with DS, between 29.2 and 19.5% in non-institutionalized); non-alcoholic fatty liver disease (NAFLD; 82% in obese and 45% in non-obese); biliary lithiasis (6.9% under 3 years); celiac disease (6.,6%); geographical tongue (4%); hepatitis B virus sensitivity; autoimmune hepatitis and cholangitis; Crohn's disease, inflammatory bowel disease (IBD); pancreatitis; vitamin D deficiency (45.2% in Italy); functional disorders: suction, swallowing and chewing disorders (13 of 19 children with DS under 4 years); gastroesophageal reflux (47% in children with sleep apnea); achalasia (0,5% in adults); obesity (51.6% of males and 40.0% of females in Ireland) and overweight (32.0% and 14.8%); constipation (19.0%). Based on their practice, the authors insist on the following points: malformations are sometimes detected late (chronic vomiting after the introduction of food pieces, resistant constipation despite appropriate measures); prescription of preventive doses of vitamin D is advised; jaundice in a baby with DS may be retentional; in the event of transient leukemoid reaction it is vital to monitor liver function; the patient with geographic tongue must be reassured; for celiac serology there is no consensus on the staring age and the frequency, we propose every year from the age of 2; we advise to test people with DS for H. pylori infection if they are attending specialized institutions; abdominal ultrasounds must be systematic during the first months of life; detection of NAFLD is recommended; people with DS must be vaccinated against hepatitis B; breastfeeding is possible with maternal support; it is important to start speech therapy very early; feeding difficulties are often overlooked by the family and educators; gastroesophageal reflux is often pathological; preventing obesity must start from birth using body mass index for the general population; it is necessary to do everything for their meals to be joyful.

摘要

背景与方法

喂养问题和胃肠道疾病是唐氏综合征(DS)患者最常见的异常情况,对他们的日常生活有重大影响。本研究基于2018年10月从PubMed搜索中选取的504篇参考文献列出了各种异常情况。

结果

这些异常情况分为三类:解剖学异常:十二指肠闭锁和狭窄(3.9%)、十二指肠蹼和环状胰腺;迷走右锁骨下动脉(患有心脏异常的DS儿童中占12%);先天性巨结肠(2.76%);肛门直肠畸形(1.16%);肝脏先天性血管畸形;口面部裂隙、双叶悬雍垂(4.63%)和黏膜下口面部裂隙;食管闭锁(0.5 - 0.9%);幽门狭窄(0.3%);膈疝;小肠旋转不良或十二指肠反位;脐膨出、腹裂或中线异常、脐静脉异常;生物学、免疫学和感染性异常:新生儿胆汁淤积(3.9%);新生儿肝纤维化;幽门螺杆菌感染(在机构照料的DS儿童中占75.8%,在非机构照料儿童中为29.2%至19.5%);非酒精性脂肪性肝病(NAFLD;肥胖者中占82%,非肥胖者中占45%);胆石症(3岁以下儿童中占6.9%);乳糜泻(6.6%);地图舌(4%);乙型肝炎病毒易感性;自身免疫性肝炎和胆管炎;克罗恩病、炎症性肠病(IBD);胰腺炎;维生素D缺乏(意大利为45.2%);功能障碍:吸吮、吞咽和咀嚼障碍(19名4岁以下DS儿童中有13名);胃食管反流(患有睡眠呼吸暂停的儿童中占47%);贲门失弛缓症(成人中占0.5%);肥胖(爱尔兰男性中占51.6%,女性中占40.0%)和超重(分别为32.0%和14.8%);便秘(19.0%)。基于他们的实践,作者强调以下几点:畸形有时发现较晚(引入食物块后慢性呕吐,尽管采取适当措施仍顽固性便秘);建议预防性给予维生素D;DS婴儿的黄疸可能是潴留性的;发生短暂类白血病反应时,监测肝功能至关重要;地图舌患者必须得到安抚;对于乳糜泻血清学检查,起始年龄和频率尚无共识,我们建议从2岁起每年进行检查;如果DS患者在专门机构就诊,建议检测幽门螺杆菌感染;在生命的头几个月必须定期进行腹部超声检查;建议检测NAFLD;DS患者必须接种乙型肝炎疫苗;在母亲支持下可以进行母乳喂养;尽早开始言语治疗很重要;喂养困难常常被家庭和教育工作者忽视;胃食管反流通常是病理性的;预防肥胖必须从出生开始,使用针对普通人群的体重指数;必须尽一切努力让他们用餐愉快。

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