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Acta Paediatr. 2006 Feb;95(2):246-9.

Anakinra therapy for CINCA syndrome with a novel mutation in exon 4 of the CIAS1 gene.

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1
Department of Paediatrics, Seirei Hamamatsu General Hospital, Shizuoka, Japan. matr@sis.seirei.or.jp

Abstract

We report on a patient with chronic infantile neurological cutaneous and articular (CINCA) syndrome. Sequence analysis revealed a novel missense mutation in exon 4 of the CIAS1 gene. The patient was unresponsive to several treatments including prednisolone, immunosuppressants (azathioprine and cyclosporin), disease-modifying antirheumatic drugs (DMARDs: penicillamine, salazopyrin and methotrexate) and the tumour necrosis factor-alpha (TNF-a)-blocker infliximab. At 32 mo of age, administration of the recombinant human interleukin-1 receptor antagonist anakinra commenced, which caused an immediate and marked improvement in the clinical symptoms and laboratory test results. Continuous inhibition of the inflammation required a dose of 1.0 mg/kg every 12 h.

CONCLUSION:

Following the diagnosis of CINCA syndrome, anakinra treatment should be commenced as the first line of therapy.

PMID:
16449034
DOI:
10.1080/08035250500341451
[Indexed for MEDLINE]
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