%0 Journal Article %J Clin Exp Rheumatol %D 2015 %T Different presentations of mevalonate kinase deficiency: a case series. %A De Pieri, Carlo %A Taddio, Andrea %A Insalaco, Antonella %A Barbi, Egidio %A Lepore, Loredana %A Ventura, Alessandro %A Tommasini, Alberto %K Age Factors %K Bacterial Infections %K Child %K Child, Preschool %K Diagnosis, Differential %K Diagnostic Errors %K Female %K Genetic Predisposition to Disease %K Humans %K Infant %K Inflammatory Bowel Diseases %K Male %K Mevalonate Kinase Deficiency %K Phenotype %K Predictive Value of Tests %K Recurrence %K Risk Factors %K Sepsis %K Vasculitis %K Young Adult %X

OBJECTIVES: 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.

CONCLUSIONS: We propose a new perspective on MKD, suggesting that the presentation of this disease can vary from patient to patient.

%B Clin Exp Rheumatol %V 33 %P 437-42 %8 2015 May-Jun %G eng %N 3 %1 http://www.ncbi.nlm.nih.gov/pubmed/25897835?dopt=Abstract