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Rapid Remission With Upadacitinib in a Child With Refractory Crohn's Disease and ATM Mutation: A Case Report
Yan Liu1, XiaoMei Song1, LingYa Xiang1
1Department of Gastroenterology, Chongqing General Hospital, Chongqing University, Chongqing, China.
Insights
Upadacitinib achieved remission in a pediatric Crohn's disease patient refractory to multiple therapies. This finding offers hope for managing complex pediatric Crohn's disease cases, including those with genetic mutations.
Area of Science:
- Gastroenterology and Immunology
- Pediatric Inflammatory Bowel Disease
Background:
- Pediatric Crohn's disease (PCD) management is challenging, often requiring advanced therapies.
- Transitioning biologic therapies in PCD can be complex, with limited options for refractory cases.
Observation:
- A pediatric patient with Crohn's disease (CD) showed refractory symptoms despite treatment with infliximab, ustekinumab, adalimumab, thalidomide, and prednisone.
- The patient had a known ataxia telangiectasia mutated (ATM) gene mutation.
Findings:
- Upadacitinib successfully induced remission in this pediatric CD patient.
- The patient tolerated upadacitinib well, indicating potential efficacy in refractory PCD.
Implications:
- Upadacitinib may be a viable therapeutic option for children with refractory Crohn's disease, even those with specific genetic mutations like ATM.
- Further research is warranted to explore upadacitinib's role in managing pediatric inflammatory bowel diseases.
Abstract:
Managing pediatric Crohn's disease (PCD) presents challenges due to severe complications and higher biologic therapy needs. Transitioning from anti-tumor necrosis factor agents to off-label therapies adds complexity. Although upadacitinib has demonstrated efficacy and tolerability in adult inflammatory bowel disease and pediatric atopic dermatitis, there are limited data for its application in PCD. This case report delineates successful remission with upadacitinib in a child with CD refractory to infliximab, ustekinumab, adalimumab, thalidomide, and prednisone. Notably, the patient carried an ataxia telangiectasia mutated (ATM) gene mutation. These findings provide valuable evidence for PCD management and highlight the potential benefits of upadacitinib in this population.
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