Oliveira Gracinda Nogueira, Mohan Rajiv, Fagbemi Andrew
Hospital Pediátrico de Coimbra, Portugal.
Royal Manchester Children's Hospital, Manchester, United Kingdom of Great Britain and Northern Ireland.
Arq Gastroenterol. 2018 Jan-Mar;55(1):86-93. doi: 10.1590/S0004-2803.201800000-17.
Celiac disease is an immune-mediated disorder with a multiform presentation and therefore a challenging diagnosis.
Our purpose is to identify the epidemiological, clinical, laboratory and histologic characteristics of children with celiac disease at diagnosis and on follow-up.
Children with previously established or newly diagnosed celiac disease, admitted in a tertiary centre in a two-year period (2014-2016) were recruited. Data was collected retrospectively from electronic medical records and clinical notes, and subsequently analysed with SPSS version 20.0.
A total of 159 patients, out of 312, were included. Age ranged from 1 to 17 years (mean ± SD: 8.5±4.5 years, 69% girls). Disease presentation was classical in 60%, non-classical in 25%, subclinical in 10% and 5% classified as potential celiac disease. Non-classical and subclinical profiles had a higher mean age at presentation but not statistically significant (P-value 0.24). The most frequent gastrointestinal features at presentation were abdominal pain (58%), diarrhea (43%) and bloating (27%). A positive family history for celiac disease was present in 24% (n=35). We found anaemia in 23%, low ferritin in 63% and a moderate to severe deficiency of 25-hydroxyvitamin D in 62%. celiac disease -specific serologic testing and esophagogastroduodenoscopy were performed in 99%. Histology revealed modified Marsh 2 or 3 enteropathy in 94%, the remaining had normal histology but positive human leukocyte antigen typing. Clinical improvement at 12 months of gluten-free diet was complete in 51% and partial in 49%. IgA tTG normalized after 12-30 months of gluten-free diet in 45%. On growth assessment at diagnosis and after 12-28 months of gluten-free diet, 100% had height increase (mean ±SD: 7.11±4.43 cm) and 96% weight gain (mean ±SD: 5.60±4.91 kg).
Our findings outline the diverse clinical presentations of pediatric celiac disease that should be considered irrespective of age. Increased clinician's awareness will enable an early diagnosis and treatment, with subsequent symptom and nutritional status improvement.
乳糜泻是一种免疫介导的疾病，表现形式多样，因此诊断具有挑战性。
我们的目的是确定乳糜泻患儿在诊断时及随访期间的流行病学、临床、实验室和组织学特征。
招募在两年期间（2014 - 2016年）入住三级中心的既往确诊或新诊断为乳糜泻的儿童。数据从电子病历和临床记录中回顾性收集，随后使用SPSS 20.0版进行分析。
312名患者中，共纳入159名。年龄范围为1至17岁（平均±标准差：8.5±4.5岁，69%为女孩）。60%的疾病表现为典型，25%为非典型，10%为亚临床，5%归类为潜在乳糜泻。非典型和亚临床型在发病时的平均年龄较高，但无统计学意义（P值0.24）。发病时最常见的胃肠道特征是腹痛（58%）、腹泻（43%）和腹胀（27%）。24%（n = 35）有乳糜泻家族史阳性。我们发现23%有贫血，63%有低铁蛋白，62%有中度至重度25 - 羟基维生素D缺乏。99%进行了乳糜泻特异性血清学检测和食管胃十二指肠镜检查。组织学显示94%为改良的马什2级或3级肠病，其余组织学正常但人类白细胞抗原分型阳性。无麸质饮食12个月时临床改善完全的占51%，部分改善的占49%。无麸质饮食12 - 30个月后，45%的IgA - tTG恢复正常。在诊断时以及无麸质饮食12 - 28个月后的生长评估中，100%身高增加（平均±标准差：7.11±4.43厘米），96%体重增加（平均±标准差：5.60±4.91千克）。
我们的研究结果概述了小儿乳糜泻的多种临床表现，无论年龄大小均应予以考虑。提高临床医生的认识将有助于早期诊断和治疗，进而改善症状和营养状况。
