Mevalonate kinase deficiency (MKD), also known as Hyper IgD syndrome, is an inborn error of metabolism characterized by inflammatory dysregulation and, in most severe cases, neurodevelopmental delay. The clinical phenotype of each patient depends on the severity of the underlying enzymatic defect and on environmental factors. Due to its complex pathogenesis, involving both metabolic and immune functions, the disease shows different clinical pictures mimicking infectious, inflammatory, rheumatologic and neurological disorders. In these cases the correct diagnosis may be delayed and the patient may undergo useless investigation and treatment. In the present work five common patterns of clinical presentation of the disease that can lead to a late or wrong diagnosis are identified. Considering MKD as a novel “great mimicker” can foster awareness of this disorder among paediatricians and physicians in different medical specialties. Each case will enable to discuss possible diagnostic pitfalls and to propose practical hints to improve the diagnosis.

Difetto di mevalonato-chinasi: molte facce di una stessa malattia

Taddio, Andrea;Barbi, Egidio;Lepore, Loredana;Tommasini, Alberto;Ventura, Alessandro
2013-01-01

Abstract

Mevalonate kinase deficiency (MKD), also known as Hyper IgD syndrome, is an inborn error of metabolism characterized by inflammatory dysregulation and, in most severe cases, neurodevelopmental delay. The clinical phenotype of each patient depends on the severity of the underlying enzymatic defect and on environmental factors. Due to its complex pathogenesis, involving both metabolic and immune functions, the disease shows different clinical pictures mimicking infectious, inflammatory, rheumatologic and neurological disorders. In these cases the correct diagnosis may be delayed and the patient may undergo useless investigation and treatment. In the present work five common patterns of clinical presentation of the disease that can lead to a late or wrong diagnosis are identified. Considering MKD as a novel “great mimicker” can foster awareness of this disorder among paediatricians and physicians in different medical specialties. Each case will enable to discuss possible diagnostic pitfalls and to propose practical hints to improve the diagnosis.
2013
Pubblicato
http://www.medicoebambino.com/?id=1308_501.pdf
File in questo prodotto:
Non ci sono file associati a questo prodotto.
Pubblicazioni consigliate

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11368/2920468
 Avviso

Attenzione! I dati visualizzati non sono stati sottoposti a validazione da parte dell'ateneo

Citazioni
  • ???jsp.display-item.citation.pmc??? ND
  • Scopus 0
  • ???jsp.display-item.citation.isi??? ND
social impact