Ottobre 2013 - Volume XXXII - numero 8

Medico e Bambino


Aggiornamento

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

Carlo De Pieri1, Antonella Insalaco2, Andrea Taddio >sup>1>/sup>, Egidio Barbi1, Loredana Lepore1, Alberto Tommasini1, Alessandro Ventura1

1IRCCS Materno-Infantile “Burlo Garofolo”, Trieste
2IRCCS Ospedale Pediatrico Bambino Gesù, Roma

Indirizzo per corrispondenza: carlodepieri@gmail.com

Mevalonate kinase deficiency: various aspects of the same disease

Key words: Mevalonate kinase deficiency, Hyper IgD syndrome, Mevalonic aciduria

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.

Vuoi citare questo contributo?

C. De Pieri, A. Insalaco, A. Taddio, E. Barbi, L. Lepore, A. Tommasini, A. Ventura Difetto di mevalonato-chinasi: molte facce di una stessa malattia. Medico e Bambino 2013;32(8):501 https://www.medicoebambino.com/?id=1308_501.pdf


L'accesso è riservato agli abbonati alla rivista che si siano registrati.
Per accedere all'articolo in formato full text è necessario inserire nella casella di login username e password.

L'immissione di nuovi contenuti è riservata ai soli utenti registrati