title: The scintigraphic evaluation and genetic correlation of joint involvements in pediatric patients with familial Mediterranean fever.
abstract: OBJECTIVE
  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.
  
  
  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.
authors.affiliation: Department of Nuclear Medicine, Faculty of Medicine, Mustafa Kemal University, Hatay, Turkey. drfusunay@yahoo.com
authors.forename: F
authors.initials: F
authors.lastname: Aydogan
authors.forename: M
authors.initials: M
authors.lastname: Tutanc
authors.forename: V
authors.initials: V
authors.lastname: Arica
authors.forename: S
authors.initials: S
authors.lastname: Arica
authors.forename: R
authors.initials: R
authors.lastname: Gunesacar
mesh_terms: D001168:Arthritis / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D002648:Child; D003598:Cytoskeletal Proteins / Q000235:genetics*; D010505:Familial Mediterranean Fever / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D000071198:Pyrin; D011877:Radionuclide Imaging; D019275:Radiopharmaceuticals; D017422:Sequence Analysis, DNA; D013669:Technetium Tc 99m Medronate
chemical_list: D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071198:Pyrin; D019275:Radiopharmaceuticals; D013669:Technetium Tc 99m Medronate