Mevalonate kinase deficiency: an updated clinical overview and revision of the SHARE recommendations
Publication date
2024-11-12
Authors
Lengvári, Lilla
Takács, Kata
Lengyel, Anna
Pálinkás, Annamária
Wouters, Carine Helena
Koné-Paut, Isabelle
Kuemmerle-Deschner, Jasmin
Jeyaratnam, Jerold
Anton, Jordi
Lachmann, Helen Jane
Editors
Advisors
Supervisors
Document Type
Article
Metadata
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License
cc_by
Abstract
Mevalonate kinase deficiency (MKD), a rare auto-inflammatory disorder, arises from mutations in the MVK gene, disrupting isoprenoid biosynthesis, and affecting cellular processes. This comprehensive review provides an updated perspective on MKD, including its aetiology, pathogenesis, diagnostic modalities, and therapeutic strategies. Based on recent research and clinical advances, our objective is to bridge the knowledge gaps in the 2015 SHARE guidelines. By describing molecular mechanisms, diagnostic dilemmas, and emerging therapies, this article should serve as a resource for clinicians and researchers, promoting a deeper understanding of MKD and guiding optimal patient care.
Keywords
diagnosis, genetics, guideline, mevalonate kinase deficiency, treatment, Immunology and Allergy, Immunology
Citation
Lengvári, L, Takács, K, Lengyel, A, Pálinkás, A, Wouters, C H, Koné-Paut, I, Kuemmerle-Deschner, J, Jeyaratnam, J, Anton, J, Lachmann, H J, Gattorno, M, Hofer, M, Toplak, N, Weiser, P, Kallinich, T, Ozen, S, Hentgen, V, Uziel, Y, Horváth, Z, Szabados, M, Brogan, P, Constantin, T & Frenkel, J 2024, 'Mevalonate kinase deficiency : an updated clinical overview and revision of the SHARE recommendations', Frontiers in Immunology, vol. 15, 1466844. https://doi.org/10.3389/fimmu.2024.1466844