Neonatal treatment of CINCA syndrome.

Détails

Ressource 1Télécharger: BIB_810C9092B9B3.P001.pdf (720.42 [Ko])
Etat: Public
Version: de l'auteur⸱e
ID Serval
serval:BIB_810C9092B9B3
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Institution
Titre
Neonatal treatment of CINCA syndrome.
Périodique
Pediatric Rheumatology Online Journal
Auteur⸱e⸱s
Paccaud Y., Berthet G., Von Scheven-Gête A., Vaudaux B., Mivelaz Y., Hofer M., Roth-Kleiner M.
ISSN
1546-0096 (Electronic)
ISSN-L
1546-0096
Statut éditorial
Publié
Date de publication
2014
Peer-reviewed
Oui
Volume
12
Pages
52
Langue
anglais
Notes
Publication types: Journal Article Publication Status: epublish
Résumé
ABSTRACT: Chronic Infantile Neurological Cutaneous Articular (CINCA) syndrome, also called Neonatal Onset Multisystem Inflammatory Disease (NOMID) is a chronic disease with early onset affecting mainly the central nervous system, bones and joints and may lead to permanent damage. We report two preterm infants with severe CINCA syndrome treated by anti-interleukin-1 in the neonatal period, although, so far, no experience with this treatment in infants younger than three months of age has been reported. A review of the literature was performed with focus on treatment and neonatal features of CINCA syndrome.
CASE REPORT: Two cases suspected to have CINCA syndrome were put on treatment with anakinra in the early neonatal period due to severe clinical presentation. We observed a rapid and persistent decline of clinical signs and systemic inflammation and good drug tolerance. Diagnosis was confirmed in both cases by mutations in the NLRP3/CIAS1-gene coding for cryopyrin. As particular neonatal clinical signs polyhydramnios and endocardial overgrowth are to be mentioned.
CONCLUSION: We strongly suggest that specific treatment targeting interleukin-1 activity should be started early. Being well tolerated, it can be introduced already in neonates presenting clinical signs of severe CINCA syndrome in order to rapidly control inflammation and to prevent life-long disability.
Pubmed
Web of science
Open Access
Oui
Création de la notice
29/01/2015 20:23
Dernière modification de la notice
20/08/2019 14:41
Données d'usage