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Tocilizumab for the Treatment of Mevalonate Kinase Deficiency
Joint Authors
Herlin, Troels
Rafiq, Nadia K.
Lachmann, Helen
Joensen, Frodi
Brogan, P.
Source
Issue
Vol. 2018, Issue 2018 (31 Dec. 2018), pp.1-6, 6 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2018-08-26
Country of Publication
Egypt
No. of Pages
6
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Rafiq, Nadia K.& Lachmann, Helen& Joensen, Frodi& Herlin, Troels& Brogan, P.. 2018. Tocilizumab for the Treatment of Mevalonate Kinase Deficiency. Case Reports in Pediatrics،Vol. 2018, no. 2018, pp.1-6.
https://search.emarefa.net/detail/BIM-1149049
Modern Language Association (MLA)
Rafiq, Nadia K.…[et al.]. Tocilizumab for the Treatment of Mevalonate Kinase Deficiency. Case Reports in Pediatrics No. 2018 (2018), pp.1-6.
https://search.emarefa.net/detail/BIM-1149049
American Medical Association (AMA)
Rafiq, Nadia K.& Lachmann, Helen& Joensen, Frodi& Herlin, Troels& Brogan, P.. Tocilizumab for the Treatment of Mevalonate Kinase Deficiency. Case Reports in Pediatrics. 2018. Vol. 2018, no. 2018, pp.1-6.
https://search.emarefa.net/detail/BIM-1149049
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1149049