Abstract
Objective: We aimed to raise awareness among paediatricians and physicians about this often misunderstood condition. Methods: We discussed the clinical profiles associated with late or wrong diagnosis of mevalonate kinase deficency (MKD) in a single centre case series. Results: We analysed the most common challenges and pitfalls that a clinician might face during the diagnostic process. Five main clinical profiles were characterised. Conclusion: We propose a new perspective on MKD, suggesting that the presentation of this disease can vary from patient to patient.
Original language | English |
---|---|
Pages (from-to) | 437-442 |
Number of pages | 6 |
Journal | Clinical and Experimental Rheumatology |
Volume | 33 |
Issue number | 3 |
Publication status | Published - 2015 |
Keywords
- Autoinflammatory syndromes
- Hyper-IgD syndrome
- Mevalonate kinase deficency
- Periodic fever
ASJC Scopus subject areas
- Rheumatology
- Immunology
- Immunology and Allergy