Chumpitazi Bruno P, Robayo-Torres Claudia C, Tsai Cynthia M, Opekun Antone R, Baker Susan S, Nichols Buford L, Gilger Mark A
Department of Pediatrics, Section of Gastroenterology, Hepatology, and Nutrition, Baylor College of Medicine.
Texas Children's Hospital.
J Pediatr Gastroenterol Nutr. 2018 Jun;66 Suppl 3(Suppl 3):S52-S55. doi: 10.1097/MPG.0000000000001859.
A subset of children with functional gastrointestinal disorders (FGIDs), which includes functional dyspepsia, may have duodenal disaccharidase deficiencies.
To determine the frequency, demographics, and clinical characteristics associated with duodenal disaccharidase deficiencies in children with functional dyspepsia.
Children ages 4 to 18 years undergoing esophagogastroduodenoscopy (EGD) evaluation for dyspepsia were enrolled in either a retrospective (study 1) or prospective (study 2) evaluation. Those with histologic abnormalities were excluded. Duodenal biopsies were obtained for disaccharidase enzyme analysis. In the retrospective study, both demographic and clinical characteristics were obtained via chart review. In the prospective study, parents completed the Rome II Questionnaire on Gastrointestinal Symptoms before the EGD.
One hundred and twenty-nine children (n = 101, study 1; n = 28, study 2) were included. Mean age was 11.2 ± 3.8 (SD) years in study 1 and 10.6 ± 3.2 years in study 2. Forty-eight (47.5%) of subjects in study 1 and 13 (46.4%) of subjects in study 2 had at least 1 disaccharidase deficiency identified. All of those with a disaccharidase deficiency in both studies had lactase deficiency with 8 (7.9%) and 5 (17.9%) of those in studies 1 and 2, respectively, having an additional disaccharidase deficiency. The second most common disaccharidase deficiency pattern was that of pan-disaccharidase deficiency (PDD) in both studies. In study 1 (where both race and ethnicity were captured), self-identified Hispanic (vs non-Hispanic, P < 0.05) and non-white (vs white, P < 0.01) children were more likely to have lactase deficiency. Age, sex, and type of gastrointestinal symptom were not associated with presence or absence of a disaccharidase deficiency.
Approximately half of children with functional dyspepsia undergoing EGD were identified as having a disaccharidase deficiency (predominantly lactase deficiency). Race/ethnicity may be associated with the likelihood of identifying a disaccharidase deficiency. Other clinical characteristics were not able to distinguish those with versus without a disaccharidase deficiency.
患有功能性胃肠病（FGIDs）（包括功能性消化不良）的一部分儿童可能存在十二指肠双糖酶缺乏症。
确定功能性消化不良儿童中十二指肠双糖酶缺乏症的发生率、人口统计学特征及临床特点。
对4至18岁因消化不良接受食管胃十二指肠镜检查（EGD）评估的儿童进行回顾性（研究1）或前瞻性（研究2）评估。排除有组织学异常的儿童。获取十二指肠活检组织进行双糖酶分析。在回顾性研究中，通过查阅病历获取人口统计学和临床特征。在前瞻性研究中，父母在EGD检查前完成罗马II胃肠症状问卷。
共纳入129名儿童（研究1中n = 101；研究2中n = 28）。研究1中儿童的平均年龄为11.2±3.8（标准差）岁，研究2中为10.6±3.2岁。研究1中48名（47.5%）受试者以及研究2中13名（46.4%）受试者被发现至少存在一种双糖酶缺乏。两项研究中所有双糖酶缺乏的受试者均有乳糖酶缺乏，研究1和研究2中分别有8名（7.9%）和5名（17.9%）受试者还存在其他双糖酶缺乏。两项研究中第二常见的双糖酶缺乏类型均为全双糖酶缺乏（PDD）。在研究1（记录了种族和族裔）中，自我认定为西班牙裔（与非西班牙裔相比，P<0.05）和非白人（与白人相比，P<0.01）的儿童更易出现乳糖酶缺乏。年龄、性别和胃肠道症状类型与双糖酶缺乏的有无无关。
接受EGD检查的功能性消化不良儿童中约半数被发现存在双糖酶缺乏（主要是乳糖酶缺乏）。种族/族裔可能与双糖酶缺乏的检出可能性相关。其他临床特征无法区分有无双糖酶缺乏的儿童。
