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.
MeSH terms
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Age Factors
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Bacterial Infections / diagnosis
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Bacterial Infections / etiology
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Child
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Child, Preschool
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Diagnosis, Differential
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Diagnostic Errors / prevention & control
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Female
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Genetic Predisposition to Disease
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Humans
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Infant
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Inflammatory Bowel Diseases / diagnosis
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Inflammatory Bowel Diseases / etiology
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Male
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Mevalonate Kinase Deficiency / complications
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Mevalonate Kinase Deficiency / diagnosis*
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Mevalonate Kinase Deficiency / epidemiology
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Mevalonate Kinase Deficiency / etiology
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Mevalonate Kinase Deficiency / genetics
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Phenotype
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Predictive Value of Tests
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Recurrence
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Risk Factors
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Sepsis / diagnosis
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Sepsis / etiology
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Vasculitis / diagnosis
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Vasculitis / etiology
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Young Adult