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Paediatric Rheumatology

 

Different presentations of mevalonate kinase deficiency: a case series


1, 2, 3, 4, 5, 6, 7

 

  1. Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy.
  2. Institute for Maternal and Child Health, IRCCS Burlo Garofolo; and Department of Medical, Surgical and Health Sciences, University of Trieste, Trieste, Italy.
  3. Operative Unit of Rheumatology, Department of Paediatric Medicine, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy.
  4. Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy.
  5. Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy.
  6. Institute for Maternal and Child Health, IRCCS Burlo Garofolo; and Department of Medical, Surgical and Health Sciences, University of Trieste, Trieste, Italy.
  7. Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy.

CER7751
2015 Vol.33, N°3
PI 0437, PF 0442
Paediatric Rheumatology

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PMID: 25897835 [PubMed]

Received: 17/07/2014
Accepted : 19/12/2014
In Press: 16/04/2015
Published: 22/06/2015

Abstract

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.

Rheumatology Article