Sami Ahmad Salah, Rosh Joel R
From the Department of Pediatrics, Goryeb Children's Hospital, Morristown, NJ.
Division of Pediatric Gastroenterology, Hepatology and Nutrition, Goryeb Children's Hospital, Morristown, NJ.
JPGN Rep. 2022 Jan 24;3(1):e169. doi: 10.1097/PG9.0000000000000169. eCollection 2022 Feb.
Camurati-Engelmann disease (CED) is a rare disorder caused by activating mutations in the TGF-β1 gene and characterized by hyperostosis of long bones and bone dysplasia. We describe a case of an adolescent with CED and moderate-severe Crohn Disease (CD). Infliximab improved gastrointestinal symptoms but was associated with worsening CED-associated bone pain. Clinical remission was successfully achieved with dual biologic therapy that included vedolizumab and ustekinumab. Possible reasons for this patient's clinical response are advanced and include speculation about the complex role of TGF-β1 signaling in the etiology of both CED and CD.
卡穆拉蒂-恩格尔曼病（CED）是一种由转化生长因子-β1（TGF-β1）基因激活突变引起的罕见疾病，其特征为长骨骨质增生和骨发育异常。我们报告一例患有CED和中重度克罗恩病（CD）的青少年病例。英夫利昔单抗改善了胃肠道症状，但却导致CED相关的骨痛加重。通过包括维多珠单抗和乌司奴单抗的双重生物治疗成功实现了临床缓解。该患者临床反应的可能原因较为复杂，包括对TGF-β1信号在CED和CD病因中复杂作用的推测。
