Wallace Robyn A
Mater and Princess Alexandra Hospitals, Brisbane, Australia.
J Intellect Dev Disabil. 2007 Mar;32(1):45-50. doi: 10.1080/13668250601146761.
Adults with Down syndrome (DS) are predisposed to syndromic and environmental gastrointestinal conditions.
In a hospital-based clinic for adults with DS, a chart audit was conducted to assess the range and frequency of gastrointestinal conditions.
From January 2003 to March 2005, 57 patients attended the clinic, average age 37 years (SD = 13, range 17-63), 34(60%) male, and 12(21%) with a history of institutionalisation. Of these, 56 were found to have at least one gastrointestinal concern. Of the genotypic conditions, the prevalence was as follows: 6(12%) of 51 tested had likely celiac disease, 1(2%) had achalasia, 1(2%) inflammatory bowel disease, 1(2%) cholelithiasis, 2(4%) unexplained abnormal liver function tests, 1(2%) extrinsic oesophageal compression, and 5(9%) gastro-oesophageal reflux. Of the environmental conditions, 29(67%) of 43 tested had H. pylori infection; 13(25%) of 53 tested had hepatitis B infection (including 2 HbsAg positive, 0 HbeAg positive), 22(42%) non-immune and 4(7%) not tested; 17(36%) of 47 tested were immune to hepatitis A, 30(64%) non-immune and 10(18%) not tested. Of the conditions of uncertain link with Down syndrome, 11(19%) of the 57 patients had unexplained constipation; 11(19%) had unexplained chronic diarrhoea; 1(2%) had haemochromatosis; and 39(68%) presented with overnutrition.
On specific enquiry, a majority of adults with DS have a gastrointestinal condition. As many of the conditions require hospital services, specially designed protocols in this setting should be developed.
成年唐氏综合征（DS）患者易患综合征性和环境性胃肠道疾病。
在一家针对成年DS患者的医院诊所，进行了病历审查以评估胃肠道疾病的范围和频率。
2003年1月至2005年3月，57名患者到该诊所就诊，平均年龄37岁（标准差=13，范围17 - 63岁），34名（60%）为男性，12名（21%）有机构收容史。其中，56名被发现至少有一项胃肠道问题。在基因型疾病方面，患病率如下：51名接受检测者中有6名（12%）可能患有乳糜泻，1名（2%）患有贲门失弛缓症，1名（2%）患有炎症性肠病，1名（2%）患有胆结石，2名（4%）肝功能检查异常原因不明，1名（2%）有外在性食管压迫，5名（9%）有胃食管反流。在环境性疾病方面，43名接受检测者中有29名（67%）感染幽门螺杆菌；53名接受检测者中有13名（25%）感染乙型肝炎（包括2名乙肝表面抗原阳性，0名乙肝e抗原阳性），22名（42%）无免疫力，4名（7%）未检测；47名接受检测者中有17名（36%）对甲型肝炎有免疫力，30名（64%）无免疫力，10名（18%）未检测。在与唐氏综合征关联不确定的疾病方面，57名患者中有11名（19%）有不明原因的便秘；11名（19%）有不明原因的慢性腹泻；1名（2%）患有血色素沉着症；39名（68%）存在营养过剩。
经特定询问，大多数成年DS患者患有胃肠道疾病。由于许多疾病需要住院治疗，应制定针对此情况的专门方案。
