Medico e Bambino
2012
Gennaio 2012
numero 1
AGGIORNAMENTO




Linfoistiocitosi emofagocitica:
una sfida diagnostica per il pediatra

Elena Sieni, Valentina Cetica, Maurizio Aricò
Dipartimento di Oncoematologia Pediatrica, Azienda Ospedaliero-Universitaria Meyer, Firenze

indirizzo per corrispondenza:m.arico@meyer.it

Haemophagocytic lymphohistiocytosis:
a diagnostic challenge for the pediatrician
Key words
Haemophagocytic lymphohistiocytosis, Cellular cytotoxicity, Natural killer, Haemophagocytosis

Summary
Haemophagocytic lymphohistiocytosis (HLH) is a severe hyperinflammatory syndrome caused by uncontrolled but ineffective immune response. Inherited human disorders causing the defect of selected proteins involved in the cellular cytotoxicity machinery are responsible for this disease. Since 2000 some genes, whose mutations cause the disease, have been progressively identified. Occasionally a transient state of functional impairment may result from a contingent situation; these patients without evidence of a genetic defect are defined as affected by “secondary” or “acquired” HLH. The international cooperative effort has allowed to develop, by prospective trials, an effective therapy that today enables most affected children to be cured. A diagnostic strategy based on clinical criteria and functional assays has also been defined, thus providing a strong support to the clinical diagnosis and directing early start of specific therapy. On this basis, genetic diagnosis can now be directed to the gene(s) most likely involved; definitive diagnosis allows to define indication to haematopoietic stem cells transplantation, familial genetic counselling, with prenatal diagnosis. Investigation of these rare genetic cases provided important clues for better understanding some mechanisms of the immune system in humans.


Vuoi citare questo contributo?
E. Sieni, V. Cetica, M. Aricò. LINFOISTIOCITOSI EMOFAGOCITICA: UNA SFIDA DIAGNOSTICA PER IL PEDIATRA. Medico e Bambino 2012;31:21-29 https://www.medicoebambino.com/?id=1201_21.pdf






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




La riproduzione senza autorizzazione è vietata. Le informazioni di tipo sanitario contenute in questo sito Web sono rivolte a personale medico specializzato e non possono in alcun modo intendersi come riferite al singolo e sostitutive dell'atto medico. Per i casi personali si invita sempre a consultare il proprio medico curante. I contenuti di queste pagine sono soggetti a verifica continua; tuttavia sono sempre possibili errori e/o omissioni. Medico e Bambino non è responsabile degli effetti derivanti dall'uso di queste informazioni.

Unauthorised copies are strictly forbidden. The medical information contained in the present web site is only addressed to specialized medical staff and cannot substitute any medical action. For personal cases we invite to consult one's GP. The contents of the pages are subject to continuous verifications; anyhow mistakes and/or omissions are always possible. Medico e Bambino is not liable for the effects deriving from an improper use of the information.