Macejova, Z

Vargova, V

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Vargova V

Macejova Z

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Pediatric Rheumatology

Our experience with the use of the Interleukin-1 receptor antagonist in the treatment of the patient with CINCA/NOMID syndrome (case study - 5 years of therapy)

V Vargova

Z Macejova

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POSTER PRESENTATION Open Access
Our experience with the use of the Interleukin-1
receptor antagonist in the treatment of the
patient with CINCA/NOMID syndrome
(case study - 5 years of therapy)
V Vargova1,2*, Z Macejova1,2
From 18th Pediatric Rheumatology European Society (PReS) Congress
Bruges, Belgium. 14-18 September 2011
Background
CINCA/NOMID is an autoinflammatory disorder char-
acterized by the triad: neonatal onset of cutaneous
symptoms, chronic meningitis, and recurrent fever. It
belongs to the group of cryopyrinopathies - it is a rare
hereditary autoinflammatory syndrome caused by exces-
sive production of interleukin-1beta.
Objectives
To evaluate effectiveness and safety of the 5 year ther-
apy with interleukin -1 receptor antagonist in patient
with CINCA/NOMID syndrome.
Methods
We present the case of the patient who had been moni-
tored closely from the fifth day of her life because of the
presence of neonatal exanthem, bouts of fevers, and
positive inflammatory parameters. Over time the patient
developed other symptoms such as pain and swelling of
joints, headaches, lymphadenopathy, aseptic meningitis,
and hearing impairment. Genetic analysis at the age of
24 years confirmed suspected mutation in the gene
NLPR3(CAIS1) - T405P. In September 2005 the therapy
with anakinra was started at the dose of 100 mg/day.
Effectiveness of the therapy was evaluated on the basis
of patient’s subjective complaints (exathem, headaches,
pain in joints, changes in well-being), objective findings
and laboratory markers of inflammation.
Results
During the first week of therapy the patient reported
dramatic relief of symptoms she suffered for years
(exanthem, headache, pain in joints). Gradually, in the
course of 6 months of therapy, levels of inflammation
markers were decreased and bouts of fever were elimi-
nated permanently. At present the patient is monitored
closely, she is free of significant subjective symptoms.
Nevertherless, the loss of vision and impairment of
hearing were found to be progressing. The patient toler-
ates without problems subcutaneous anakinra injections
administered daily. Recurrent cystitis and mycotic infec-
tion of nails were treated successfully on out-of- hospital
basis. Dynamics of the selected laboratory indicators
(before initiation of the therapy, after 8 weeks, 6
months, and 60 months of therapy, respectively) is as
follows:
ESR 70/100, 40/60, 45/52, 20/50, CRP (mg/l) 60, 7, 5,
0.44, IgG (g/l) 21.2, 19.8, 15.4, 12.5, IgA (g/l) 6.7, 5.9,
3.2, 2.5, s-creatinin (umol/l): 48, 52, 58, 65.3, u-protein:
negat-negat-negat-negat.
Conclusions
Therapy with anakinra in patient with CINCA/NOMID
resulted in permanent relief of everyday clinical symp-
toms as well as decrease in levels of inflammation indi-
cators (except for the ESR value which remains mildly
increased). In our patient, at the age of 30, results of
kidney function tests are within normal range. Our
attempts to reverse progression of hearing loss were not
successful (according to our opinion this is due to rela-
tively late initiation of the therapy). We can conclude
that the therapy with anakinra was effective
11st Dep. of Pediatrics, Safarik University and Children Hospital, Kosice,
Slovakia
Full list of author information is available at the end of the article
Vargova and Macejova Pediatric Rheumatology 2011, 9(Suppl 1):P13
http://www.ped-rheum.com/content/9/S1/P13
© 2011 Vargova and Macejova; licensee BioMed Central Ltd. This is an open access article distributed under the terms of the Creative
Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and
reproduction in any medium, provided the original work is properly cited.
(significantly improved the quality of life of our patient),
well tolerated, and safe.
Author details
11st Dep. of Pediatrics, Safarik University and Children Hospital, Kosice,
Slovakia. 23rd Dep. of Internal Medicine, Safarik University and University
Hospital, Kosice, Slovakia.
Published: 14 September 2011
doi:10.1186/1546-0096-9-S1-P13
Cite this article as: Vargova and Macejova: Our experience with the use
of the Interleukin-1 receptor antagonist in the treatment of the patient
with CINCA/NOMID syndrome (case study - 5 years of therapy). Pediatric
Rheumatology 2011 9(Suppl 1):P13.
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Vargova and Macejova Pediatric Rheumatology 2011, 9(Suppl 1):P13
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Our experience with the use of the Interleukin-1 receptor antagonist in the treatment of the patient with CINCA/NOMID syndrome (case study - 5 years of therapy)

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