Clinical and experimental rheumatology · 2015
Different presentations of mevalonate kinase deficiency: a case series.
СтатьяНазвание и аннотация: Перевод пока не подготовлен
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De Pieri Carlo, Taddio Andrea, Insalaco Antonella, Barbi Egidio, Lepore Loredana, Ventura Alessandro, Tommasini Alberto
Аннотация
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.
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.