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.

Related Concept Videos

Drugs for Treatment of Crohn's Disease in IBD Using Biologic Agents: Anti-TNF01:24

Drugs for Treatment of Crohn's Disease in IBD Using Biologic Agents: Anti-TNF

Tumor Necrosis Factor (TNF), a proinflammatory cytokine, contributes significantly to the inflammation seen in Crohn's disease. It exists as soluble TNF and membrane-bound TNF, with actions mediated through TNF receptors (TNFR). TNFR activation leads to the release of proinflammatory cytokines, T-cell activation, collagen production, and leukocyte migration, all contributing to inflammation in Crohn's disease. Anti-TNF monoclonal antibodies, namely infliximab (Remicade), adalimumab...
120
Drugs for Treatment of Crohn's Disease in IBD Using Immunomodulatory Agents01:29

Drugs for Treatment of Crohn's Disease in IBD Using Immunomodulatory Agents

Crohn's disease is an inflammatory bowel disorder marked by chronic inflammation of the GI tract. Various treatment strategies for Crohn's disease are employed, such as immunomodulatory agents, glucocorticoids, and biologics or anti-TNF therapy. Azathioprine (Imuran), a commonly used immunomodulatory drug for Crohn's disease, is converted in the body to mercaptopurine, which inhibits purine biosynthesis and cell proliferation. Both are utilized in severe cases of Inflammatory Bowel...
145
Drugs for Treatment of Crohn's Disease in IBD Using Glucocorticoids01:21

Drugs for Treatment of Crohn's Disease in IBD Using Glucocorticoids

Glucocorticoids, a class of anti-inflammatory drugs, are pivotal in treating moderate to severe Crohn's disease by inducing remission. They exhibit their anti-inflammatory action by inhibiting the production of inflammatory cytokines such as tumor necrosis factor (TNF)-α, interleukin (IL)-1, and chemokines like IL-8. In addition, they reduce the expression of inflammatory cell adhesion molecules and inhibit gene transcription of nitric oxide synthase, phospholipase A2, cyclooxygenase-2...
98