Weizman Z, Hamilton J R, Kopelman H R, Cleghorn G, Durie P R
Department of Pediatrics, University of Toronto, Canada.
Pediatrics. 1987 Dec;80(6):924-6.
A 17-year-old white adolescent had a history of chronic diarrhea, delayed puberty, and growth failure. Investigations excluded cystic fibrosis, Shwachman syndrome, and endocrine causes of growth failure. Severe steatorrhea was diagnosed from fecal fat studies, and a jejunal suction biopsy showed total villus atrophy, consistent with a diagnosis of celiac disease. Following introduction of a gluten-free diet, his appetite and growth improved, but he continued to have abdominal discomfort and loose offensive bowel motions. One year later, severe steatorrhea was present. A repeat jejunal biopsy showed partial recovery of villus architecture. Serum immuno-reactive trypsinogen level was low, which was highly suggestive of exocrine pancreatic failure. Results of quantitative pancreatic stimulation test confirmed the presence of primary pancreatic insufficiency. After introduction of oral pancreatic enzyme supplements with meals, his gastrointestinal symptoms resolved and growth velocity accelerated. Previously, primary pancreatic insufficiency has only been described in elderly patients with long-standing untreated celiac disease. This case, however, emphasizes that pancreatic failure can occur with celiac disease at any age. Determination of a serum immunoreactive trypsinogen level should be considered a useful screening tool for pancreatic insufficiency in patients with celiac disease who have not responded to a gluten-free diet.
一名17岁的白人青少年有慢性腹泻、青春期延迟和生长发育迟缓的病史。检查排除了囊性纤维化、施瓦茨曼综合征以及生长发育迟缓的内分泌原因。通过粪便脂肪研究诊断为严重脂肪泻，空肠抽吸活检显示全绒毛萎缩，符合乳糜泻的诊断。采用无麸质饮食后，他的食欲和生长情况有所改善，但仍持续有腹部不适和恶臭的稀便。一年后，出现严重脂肪泻。再次进行空肠活检显示绒毛结构部分恢复。血清免疫反应性胰蛋白酶原水平较低，高度提示外分泌性胰腺功能衰竭。定量胰腺刺激试验结果证实存在原发性胰腺功能不全。在每餐服用口服胰酶补充剂后，他的胃肠道症状消失，生长速度加快。此前，原发性胰腺功能不全仅在长期未治疗的老年乳糜泻患者中有所描述。然而，该病例强调乳糜泻在任何年龄都可能并发胰腺功能衰竭。对于未对无麸质饮食产生反应的乳糜泻患者，血清免疫反应性胰蛋白酶原水平的测定应被视为一种有用的胰腺功能不全筛查工具。
