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- Title
Successful treatment of refractory mevalonate kinase deficiency with combination therapy targeting TNFα and IL1β.
- Authors
Martin, Céleste; Scheers, Isabelle; Triaille, Clément; Boulanger, Cécile
- Abstract
The article discusses the case of a pediatric patient with mevalonate kinase deficiency (MKD) caused by homozygous mutation in the MVK gene. Topics discussed include the patient's development of very early-onset, recurrent episodes and life-threatening colitis, the results of genetic testing and colonoscopic biopsy, and the management of the patient through combination therapy targeting interleukin-1 beta and tumor necrosis factor alpha.
- Subjects
COMBINATION drug therapy; COLITIS; RED blood cell transfusion; STEROIDS; ADRENOCORTICAL hormones; PNEUMONIA; ASCITES; MEVALONATE kinase deficiency; METHOTREXATE; SEVERITY of illness index; FEVER; INFLAMMATORY bowel diseases; MONOCLONAL antibodies; ADALIMUMAB; TUMOR necrosis factors; INTERLEUKIN-1; GENETIC testing; HEMORRHAGE; COLONOSCOPY; CHEMICAL inhibitors
- Publication
Rheumatology, 2024, Vol 63, Issue 9, pe270
- ISSN
1462-0324
- Publication type
Case Study
- DOI
10.1093/rheumatology/keae200