Saeed Anjum, Assiri Asaad, Assiri Hebah, Ullah Anhar, Rashid Mohsin
Department of Pediatric, College of Medicine, King Saud University Medical City, Riyadh. Kingdom of Saudi Arabia. E-mail:.
Saudi Med J. 2017 Sep;38(9):895-899. doi: 10.15537/smj.2017.9.20808.
Objectives: To characterize the clinical presentations and diagnosis including serological tests and histopathological findings in children with celiac disease. Methods: All children (less than 18 years) with confirmed celiac disease diagnosed over a 6 year period at a private tertiary care health care center in Riyadh, Saudi Arabia were studied retrospectively. Information collected included demographics, clinical presentation and diagnostic modalities with serology and small intestinal histology reported by Marsh grading. Results: A total of 59 children had confirmed celiac disease. Thirty (50.8%) were male. Median age was 8 years (range 1 to 16 years). The mean duration of symptoms before diagnosis was 2.3 (±1.5) years. Classical disease was present only in 30.5%, whereas 69.5% had either non-classical presentations or belonged to high risk groups for celiac disease such as those with type-1 diabetes, autoimmune thyroiditis, Down syndrome and siblings. Failure to thrive was the most common presentation followed by short stature, abdominal pain and chronic diarrhea. Anti-tissue transglutaminase antibody was positive in 91.5%, and titers were no different between those with classical and non-classical disease. All had Marsh-graded biopsy findings consistent with celiac disease. Conclusion: Children with celiac disease usually present with non-classical features. A high index of suspicion needs to be maintained to consider this disorder in the diagnostic workup of pediatric patients. High risk group should be screened early to avoid complications associated with untreated celiac disease.
描述乳糜泻患儿的临床表现及诊断方法，包括血清学检查和组织病理学检查结果。方法：回顾性研究沙特阿拉伯利雅得一家私立三级医疗保健中心6年间确诊的所有18岁以下乳糜泻患儿。收集的信息包括人口统计学资料、临床表现以及血清学和小肠组织学的诊断方式（采用马什分级报告）。结果：共有59名患儿确诊为乳糜泻。其中30名（50.8%）为男性。中位年龄为8岁（范围1至16岁）。诊断前症状的平均持续时间为2.3（±1.5）年。典型疾病仅占30.5%，而69.5%的患儿有非典型表现或属于乳糜泻的高危人群，如1型糖尿病、自身免疫性甲状腺炎、唐氏综合征患儿及同胞。生长发育迟缓是最常见的表现，其次是身材矮小、腹痛和慢性腹泻。抗组织转谷氨酰胺酶抗体阳性率为91.5%，典型和非典型疾病患儿的抗体滴度无差异。所有患儿的活检结果经马什分级均符合乳糜泻。结论：乳糜泻患儿通常表现为非典型特征。在儿科患者的诊断检查中，需要保持高度怀疑以考虑这种疾病。高危人群应尽早筛查，以避免未治疗的乳糜泻相关并发症。
