Cohen-Cymberknoh Malena, Wilschanski Michael
Hadassah Medical Center Mount Scopus, Pediatrics, POB 24035, Jerusalem 91240, Israel.
BMJ Case Rep. 2009;2009. doi: 10.1136/bcr.07.2008.0578. Epub 2009 Mar 5.
A 3½-year-old apparently healthy girl with normal development presented with steatorrhoea. Both positive serum anti-tissue transglutaminase antibody levels and an intestinal biopsy were consistent with coeliac disease. A positive sweat test and genetic analysis confirmed cystic fibrosis.
一名3岁半、发育正常且外表健康的女孩出现脂肪泻。血清抗组织转谷氨酰胺酶抗体水平呈阳性以及肠道活检结果均符合乳糜泻。汗液试验呈阳性以及基因分析确诊为囊性纤维化。