Naslov
Inflammatory polyarthritis in patient with 18q deletion syndrome.

Autori
Gagro, Alenka ; Roić, Goran ; Sansović, Ivona ; Ivankov, AM ; Bobinec, A ; Antičević, Darko ; Barišić, Ingeborg

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, stručni

Izvornik
Program and abstracts Book of 10th ISABS Conference on Forensic and Anthropologic Genetics and Mayo Clinic lectures in Individualized Medicine. / - , 2017, 309-309

Skup
10th ISABS Conference on Forensic and Anthropologic Genetics and Mayo Clinic lectures in Individualized Medicine.

Mjesto i datum
Dubrovnik, Hrvatska, 19.06.2017. - 24.06.2017

Vrsta sudjelovanja
Predavanje

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
chromosomal microarray ; juvenile chronic arthritis

Sažetak
The association of certain chromosome aberrations with arthropathy has been previously described, but there is a limited number of reports in the literature. Arthropathies in 18q deletion (18q-) have been rarely described with limited differentiation between inflammatory and noninflammatory joint disease. We report a 8-year-old boy with 18q- syndrome diagnosed with chromosomal microarray (CMA)testing who developed features consistent with inflammatory arthropathy. CMA revealed a monosomy of 11553kb that was located in regions q22.1-q23. The patient presented with morning stiffness and polyarticular arthritis of three months duration and involving wrists, fingers, knees and ankles. Laboratory evaluation showed increased C-reactive protein (14, 8 mg/L), increased fibrinogen (4, 8 g/L), and normal complete blood counts, erythrocyte sedimentation rate and serum immunoglobulins. He had a negative antinuclear antibody test, , negative rheumatoid factor and negative anti- cyclic citrullinated peptide. HLA-typing was negative for HLA-B27. Ultrasound examination of knees and ankles showed synovial hyperplasia and joint effusions. Ophthalmology evaluations did not confirm uveitis. Family history revealed that his older sister has systemic lupus erythematosus. The patient received meloxicam at 15 md per day but this treatment did not control his symptoms. Therefore a short course of prednisolone was started, followed up by indomethacin and this treatment resulted in satisfactory clinical and laboratory response. The polyarticular arthritis in our patient with q18- syndrome was consistent with rheumatoid factor-negative polyarticular juvenile idiopathic arthritis according to international League of Associations for Rheumatology classification criteria. The findings in our patient support evidence that genetic loci on chromosome 18 may play a role in the expression of complex autoimmune diseases.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA