Tocilizumab for the Treatment of Mevalonate Kinase Deficiency

• Main Authors: Nadia K. Rafiq (Author), Helen Lachmann (Author), Frodi Joensen (Author), Troels Herlin (Author), Paul A. Brogan (Author)
• פורמט: ספר
• יצא לאור: Hindawi Limited, 2018-01-01T00:00:00Z.
• נושאים: article
• גישה מקוונת: Connect to this object online.
• Notes: 2090-6803; 2090-6811; 10.1155/2018/3514645
• Keywords: Pediatrics; RJ1-570
• Source: Case Reports in Pediatrics, Vol 2018 (2018)

Mevalonate kinase deficiency (MKD) is a severe autoinflammatory disease caused by recessive mutations in MVK resulting in reduced function of the enzyme mevalonate kinase, involved in the cholesterol/isoprenoid pathway. MKD presents with periodic episodes of severe systemic inflammation, poor quality of life, and life-threatening sequelae if inadequately treated. We report the case of a 12-year-old girl with MKD and severe autoinflammation that was resistant to IL-1 and TNF-α blockade. In view of this, she commenced intravenous tocilizumab (8 mg/kg every 2 weeks), a humanised monoclonal antibody targeting the IL-6 receptor (IL-6R) that binds to membrane and soluble IL-6R, inhibiting IL-6-mediated signaling. She reported immediate cessation of fever and marked improvement in her energy levels following the first infusion; after the fifth dose, she was in complete clinical and serological remission, now sustained for 24 months. This is one of the first reported cases of a child with MKD treated successfully with tocilizumab and adds to the very limited experience of this treatment for MKD. IL-6 blockade could therefore be an important addition to the armamentarium for the treatment of this rare monogenic autoinflammatory disease.