Suppr超能文献

唐氏综合征患者的胃肠道疾病。

Gastrointestinal disorders in Down syndrome.

机构信息

Down Syndrome Outpatient Clinic, Hospital de Clínicas, Universidade Federal do Paraná, Curitiba, Paraná, Brazil.

Preventive Medicine & Epidemiology, Boston University School of Medicine, Boston, Massachusetts.

出版信息

Am J Med Genet A. 2019 Aug;179(8):1426-1431. doi: 10.1002/ajmg.a.61258. Epub 2019 Jun 10.

Abstract

Down syndrome is the most common human chromosomal disorder. Among clinical findings, one constant concern is the high prevalence of gastrointestinal system alterations. The aim of this study was to determine the prevalence of gastrointestinal disorders at a Down syndrome outpatient clinic during a 10-year follow-up period. Data from medical files were retrospectively reviewed from 1,207 patients. Gastrointestinal changes occurred in 612 (50.7%). The most prevalent disorder was chronic intestinal constipation. Intestinal parasite occurred in 22% (mainly giardiasis), gastroesophageal reflux disease in 14%, digestive tract malformations occurred in 5%: 13 cases of duodenal atresia, 8 of imperforate anus, 4 annular pancreases, 2 congenital megacolon, 2 esophageal atresias, 2 esophageal compression by anomalous subclavian and 1 case of duodenal membrane. We had 38/1,207 (3.1%) patients with difficulty in sucking and only three with dysphagia that resolved before the second year of life. Peptic ulcer disease, celiac disease, and biliary lithiasis were less prevalent with 3% each. Awareness of the high prevalence of gastrointestinal disorders promotes outstanding clinical follow-up as well as adequate development and greater quality of life for patients with Down syndrome and their families.

摘要

唐氏综合征是最常见的人类染色体疾病。在临床发现中,人们一直关注的是胃肠道系统改变的高患病率。本研究旨在确定在唐氏综合征门诊诊所进行 10 年随访期间胃肠道疾病的患病率。对 1207 名患者的病历数据进行回顾性分析。612 名(50.7%)患者出现胃肠道变化。最常见的疾病是慢性肠便秘。肠道寄生虫病占 22%(主要为贾第虫病),胃食管反流病占 14%,消化道畸形占 5%:13 例十二指肠闭锁,8 例肛门闭锁,4 例环状胰腺,2 例先天性巨结肠,2 例食管闭锁,2 例异常锁骨下食管压迫和 1 例十二指肠膜。我们有 38/1207(3.1%)名患者有吸吮困难,只有 3 名患者有吞咽困难,这些问题在生命的第二年之前得到解决。消化性溃疡病、乳糜泻和胆石症的患病率各为 3%。对胃肠道疾病高患病率的认识可以促进对患者及其家庭进行出色的临床随访以及充分的发育和更高的生活质量。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验