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
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De Pieri, C., Taddio, A., Insalaco, A., Barbi, E., Lepore, L., Ventura, A., & Tommasini, A. (2015). Different presentations of mevalonate kinase deficiency: A case series. Clinical and Experimental Rheumatology, 33(3), 437-442.