Akademik Veri Yönetim Sistemi
Erciyes Tıp Genetik Günleri 2019, Kayseri, Türkiye, 21 - 23 Şubat 2019, ss.33-34, (Özet Bildiri)
Tumor necrosis factor (TNF) receptor-associated periodic syndrome (TRAPS) is a rare autosomal dominant hereditary disease
of the group of recurrent autoinflammatory syndromes. The
prognosis is generally good; the main risk is the development
of amyloidosis. Corticosteroid therapy is usually administered
during attacks. Severe cases require treatment with biological
agents. In this study, DNA fragment analysis and next generation sequencing methods were applied to elucidate the patient
with recurrent fever and joint pain. A six-year-old girl with recurrent fever and joint pain was referred to a medical genetics
clinic for a etiologic study on the consideration of autoinflammatory disease. On physical examination, there was no feature
except bilateral swelling in the knee. Echocardiography and
knee magnetic resonance examination were unremarkable. The
superficial tissue ultrasonographic examination of the bilateral
knee region was observed fluid accumulation 30 mm on the left
and 15mm on the right in the thickest site, at the suprapatellar
level. Fluid was observed in the joint range. In the sample from
the joint fluid, the white blood cell was 74000/m³. In the analysis
of the peripheral blood, white blood cell count was 17.7x10³/µL,
CRP: 31 mg/L, fibrinogen: 4.6g/L, sedimentation: 25 mm/h. The
24-hour urine protein/creatinine was 0.27 mg/mg. FMF fragment analysis revealed no mutation and the diagnosis of FMF
was excluded. The next generation sequence analysis revealed a
likely pathogenic, heterozygous c.362G>A(R121Q; rs4149584) alteration of the TNFRSF1A gene (ENST00000162749). Then the
segregation analysis was planned. In this study, we pointed out
the TNFRSF1A mutation in periodic fever syndrome cases. Early
diagnosis by genetic testing can prevent amyloidosis.