20.500.12556/DiRROS-27843 Mevalonate kinase deficiency an updated clinical overview and revision of the SHARE recommendations 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. mevalonate kinase deficiency diagnosis genetics treatment guidelines true false true Angleški jezik Ni določen Neznano 2026-02-26 11:11:46 2026-02-26 11:11:46 2026-02-27 03:58:36 0000-00-00 00:00:00 2024 0 0 Nasl. z nasl. zaslona; Opis vira z dne 28. 2. 2025; str. 1-15 [article no.] ǂ1466844 Vol. 15 Nov. 2024 0000-00-00 Zaloznikova Objavljeno NiDoloceno 0000-00-00 0000-00-00 0000-00-00 616-097 1664-3224 10.3389/fimmu.2024.1466844 227695107 RAZ_Lengvari_Lilla_2024.pdf RAZ_Lengvari_Lilla_2024.pdf 1 53D6C240F87460F0F157DC50233EE8DE 6ef55da9539f14ba2442f133857b5e64a1d26977a7dfe8c78ca0aca26af975d9 c8ca2943-12fb-11f1-9cb0-001a4af901a5 https://dirros.openscience.si/Dokument.php?lang=slv&id=40968 https://doi.org/10.3389/fimmu.2024.1466844 0 d8cf049b-12fb-11f1-9cb0-001a4af901a5 https://dirros.openscience.si/Dokument.php?lang=slv&id=40969 Univerzitetni klinični center Ljubljana 0 0 0