The scintigraphic evaluation and genetic correlation of joint involvements in pediatric patients with familial Mediterranean fever

• Published in: Human & experimental toxicology Vol. 32; no. 4; pp. 337 - 343
• Main Authors: Aydogan, F., Tutanc, M., Arica, V., Arica, S., Gunesacar, R.
• Format: Journal Article
• Language: English
• Published: London, England SAGE Publications 01.04.2013; Sage Publications; Sage Publications Ltd
• Subjects: Arthritis - complications; Arthritis - diagnosis; Arthritis - genetics; Biological and medical sciences; Child; Cytoskeletal Proteins - genetics; Diagnostic tests; Diseases of the osteoarticular system; Familial Mediterranean Fever - complications; Familial Mediterranean Fever - diagnosis; Familial Mediterranean Fever - genetics; Female; Genetics; Humans; Inflammatory diseases; Inflammatory joint diseases; Joints; Male; Medical sciences; Mutation; Pediatrics; Pyrin; Radionuclide Imaging; Radiopharmaceuticals; Sequence Analysis, DNA; Technetium Tc 99m Medronate; Bone scintigraphy; FMF; genetic analysis; Human; Correlation; Diseases of the osteoarticular system; Scintigraphy; Joint; Genetic disease; Inflammatory disease; Osteoarticular system; Familial mediterranean fever; Genetics; Diagnosis; Bone; Mechanism of action; Child
• ISSN: 0960-3271; 1477-0903
• DOI: 10.1177/0960327112464797

Purpose:We aimed to evaluate the articular involvements in pediatric patients with familial Mediterranean fever (FMF) with joint symptoms by bone scintigraphy and to correlate the involved joints with the gene mutations. Materials and methods:A total of 41 newly diagnosed patients in pediatric age group (28 girls and 13 boys; mean age 9.14 ± 2.91 years) with joint involvement symptoms were included in this study. Scintigraphic images were obtained at 5th min (blood pool or early phase) and starting at 3 h (late phase) after (after tracer injection) intravenous administration of technetium-99m (99mTc)-methylendiphosphonate (MDP). Genomic DNA was isolated from leukocytes using standard salting out procedure. The sequencing data were analyzed. Results:Of the 41 patients, arthritis was found in 21 (51.2%) patients. Of the 21 patients, there was single joint involvement in 15 (71.4%) patients and multiple joint involvement in six (28.6%) patients. The mean age of patients with joint involvement (8 ± 2.3 years) were considerably lower than the patients without joint involvement (10.35 ± 3.04 years), and this was statistically significant (p = 0.008). The most commonly involved joints were ankles and knees. Multiple joint involvements were most frequently observed in the M694V and M694I gene mutations (16.7%). Conclusions:We use and recommend the bone scintigraphy in patients with FMF to determine the presence and distribution of arthritis, since bone scintigraphy is inexpensive, noninvasive, easy-to-use, and also is more sensitive in the diagnosis and distribution of arthritis than conventional radiological methods and clinical examination.