Mevalonate kinase deficiency in a familial Mediterranean fever endemic region: a single-center experience
Patients presenting with periodic fever suggestive of FMF who exhibit atypical features should be evaluated for MKD. Further genetic testing should be performed when atypical clinical findings are present, even in those carrying pathogenic variants in exon 10 of the MEFV gene.
Authors
- Nergis Akay (ORCID: https://orcid.org/0000-0001-6102-4055)
- Mehmet Yıldız (ORCID: https://orcid.org/0000-0002-7834-4909)
- Aybüke Gunalp (ORCID: https://orcid.org/0000-0003-0137-0460)
- Amra Adrovic (ORCID: https://orcid.org/0000-0002-2400-6955)
- Fatih Haşlak (ORCID: https://orcid.org/0000-0002-6963-9668)
- Esma Aslan (ORCID: https://orcid.org/0000-0002-7554-3320)
- Kenan Barut (ORCID: https://orcid.org/0000-0001-8459-2872)
- Ece Aslan (ORCID: https://orcid.org/0000-0001-8976-1356)
- Özgür Kasapçopur (ORCID: https://orcid.org/0000-0002-1125-7720)
- Sezgin Şahin (ORCID: https://orcid.org/0000-0002-5365-3457)
- Ümit Gül (ORCID: https://orcid.org/0000-0002-1282-8273)
Institutions
- Istanbul University-Cerrahpaşa (TR)
Publication Details
- Journal
- The Turkish Journal of Pediatrics
- Published
- 2025-09-01
- DOI
- https://doi.org/10.24953/turkjpediatr.2025.6015
- Citations
- 1
- Primary Topic
- Inflammasome and immune disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.81