背景:一些关于小儿乳糜泻(CD)的研究可从中亚获得。最近的免疫遗传学研究强调,HLA-DQ2/8对CD的遗传易感性以及该地理区域的麸质饮食摄入量,与已知CD患病率为1%或更高的世界其他地区相当。
方法:这是一项前瞻性和横断面研究,调查2021年9月1日至2022年7月31日在乌兹别克斯坦三级医院儿科消化内科转诊的有症状儿童中CD的患病率和临床特征。除了从临床档案中收集与临床表现和实验室分析相关的信息外,还对患者的监护人进行了一项具体调查。血清学,组织病理学,和CD特有的免疫遗传参数,粪便zonulin,和胰腺弹性蛋白酶在CD患者中进行评估。
结果:研究人群包括206名儿童。总的来说,几乎所有患者(n=192;93.2%)都是因为胃肠道表现而转诊,在大多数情况下(n=153;74.3%)与胃肠道外表现相关;少数(n=14;6.8%)主要由于身材矮小和/或生长障碍而转诊。在所有这些研究参与者中,11名儿童(5.3%)被诊断为CD。值得注意的是,尽管在CD和非CD患者中也有类似的腹泻报道,在前一组中观察到水样腹泻(根据布里斯托尔粪便量表为7型)的频率更高,并且显着。所有这些CD患者显示抗tTGIgA高于正常上限10倍,除了一个血清总IgA水平较低的儿童;然而,由于该国缺乏EMA检测,所有患者均通过组织病理学分析获得诊断确认.值得注意的是,大多数CD儿童(82%)显示MarshIII组织学分级。大约一半的患者(54.5%)显示zonulin值高于参考范围,而没有显示胰腺弹性蛋白酶水平不足。然而,zonulin和临床之间没有相关性或关联,实验室,组织病理学,并找到了免疫遗传参数。
结论:本研究可能进一步提示乌孜别克儿童中CD的相关患病率,基于仅从有症状的患者出现的部分图片。此外,我们强调了典型CD形式的水样腹泻的患病率,这应该强烈支持在当地临床环境中对CD进行全面的诊断工作。尽管CD具有经典的临床表达,但高水平的抗tTGIgA和高沼泽等级也可能导致我们推测诊断显着延迟。
BACKGROUND: A few studies on pediatric Celiac Disease (CD) are available from Central Asia. Recent immunogenetic research has highlighted that the HLA-DQ2/8 genetic predisposition to CD as well as the dietary intake of gluten in this geographical area, are comparable to other regions of the world where CD prevalence is known to be 1% or higher.
METHODS: This is a prospective and cross-sectional study investigating the prevalence and clinical characteristics of CD in symptomatic children referred to the pediatric gastroenterology department of a tertiary hospital in Uzbekistan from 1 September 2021, until 31 July 2022. In addition to collecting the relevant information related to clinical manifestations and laboratory analyses from the clinical files, a specific survey was also administered to patients\' guardians. Serological, histopathological, and immunogenetic parameters specific to CD, fecal zonulin, and pancreatic elastases were assessed in CD patients.
RESULTS: The study population consisted of 206 children. Overall, almost all of them (n = 192; 93.2%) were referred because of gastrointestinal manifestations, which were associated with extra-gastrointestinal manifestations in most cases (n = 153; 74.3%); a minority (n = 14; 6.8%) was mainly referred due short stature and/or growth failure only. Among all of these study participants, CD was diagnosed in 11 children (5.3%). Notably, although diarrhea was similarly reported in CD and non-CD patients, watery diarrhea (type 7 according to the Bristol stool scale) was much more frequently and significantly observed in the former group. All of these CD patients showed anti-tTG IgA 10 times higher than the upper normal limit, except one child with lower serum levels of total IgA; however, all of them received a diagnostic confirmation by histopathological analysis due to the lack of EMA testing in the country. Notably, most CD children (82%) showed a Marsh III histological grading. Around half patients (54.5%) showed zonulin values above the reference range, whereas none showed insufficient levels of pancreatic elastase. However, no correlation or association between zonulin and clinical, laboratory, histopathological, and immunogenetic parameters was found.
CONCLUSIONS: This study may further suggest a relevant prevalence of CD in Uzbek children, based on this partial picture emerging from symptomatic patients only. Additionally, we highlighted the prevalence of typical CD forms with watery diarrhea, which should strongly support a full diagnostic work-up for CD in the local clinical setting. The high levels of anti-tTG IgA and high Marsh grade might also lead us to speculate a significant diagnostic delay despite the classical clinical expression of CD.