title: A retrospective review of autoinflammatory diseases in Saudi children at a rheumatology clinic.
abstract: OBJECTIVE
  Published data from Saudi Arabia regarding autoinflammatory diseases are scarce. In this study, we describe the clinical and laboratory features of autoinflammatory diseases in Saudi children.
  
  
  METHODS
  Restrospective, hospital-based study conducted from January 2010 until June 2010.
  
  
  METHODS
  Patients with autoinflammatory disease treated at the Pediatric Rheumatology Clinic at King Faisal Specialist Hospital and Research Center, Riyadh, over the past 10 years were included. Autoinflammatory diseases included the following: familial Mediterranean fever (FMF); chronic recurrent multifocal osteomyelitis (CRMO); early-onset sarcoidosis (EOS); periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis syndrome (PFAPA); chronic infantile neurologic cutaneous and articular syndrome (CINCA); and Muckle-Wells syndrome (MWS). Demographic characteristics, diagnosis, age at onset, disease duration, follow-up duration, clinical and laboratory variables, and outcome data were compiled. Gathered laboratory data were part of patients' usual medical care.
  
  
  RESULTS
  Thirty-four patients (females, 53%) with autoinflammatory diseases were included (mean age, 151 months). Mean disease duration was 118 months; mean age at onset was 32 months; consanguinity was present in 40%. Patients were diagnosed as follows: FMF, 50%; CRMO, 23.5%; CINCA, 8.8%; EOS, 8.8%; MWS, 6%; and PFAPA, 2.9%. The referral diagnosis was inaccurate in all patients except for FMF patients. Gene study was informative in 9 of 14 FMF patients who had molecular analyses. None of our cohort had amyloidosis. All CRMO patients had a favorable response to treatment except 1 patient, who had refractory, progressive disease. All patients with EOS had multiorgan involvement, including uveitis. All CINCA patients had a favorable response to anakinra.
  
  
  CONCLUSIONS
  Our report shows that autoinflammatory diseases other than FMF may be overlooked. Increased awareness among pediatricians about these conditions will help to provide better health care to patients in the form of early diagnosis and management.
authors.affiliation: Department of Pediatrics, Section of Rheumatology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
authors.forename: Abdullatif
authors.initials: A
authors.lastname: Alenazi
authors.forename: Abdullah
authors.initials: A
authors.lastname: Al Sonbul
authors.forename: Suliman
authors.initials: S
authors.lastname: Al Jumaah
authors.forename: Ali
authors.initials: A
authors.lastname: Al Mehaidib
authors.forename: Sulaiman M
authors.initials: SM
authors.lastname: Al-Mayouf
mesh_terms: D000293:Adolescent; D018501:Antirheumatic Agents / Q000627:therapeutic use; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D003241:Consanguinity; D056587:Cryopyrin-Associated Periodic Syndromes / Q000175:diagnosis* / Q000188:drug therapy; D003937:Diagnosis, Differential; D010505:Familial Mediterranean Fever / Q000175:diagnosis* / Q000188:drug therapy; D005260:Female; D056660:Hereditary Autoinflammatory Diseases / Q000175:diagnosis* / Q000188:drug therapy; D006801:Humans; D007223:Infant; D008297:Male; D010019:Osteomyelitis / Q000175:diagnosis* / Q000188:drug therapy; D012189:Retrospective Studies; D012219:Rheumatology / Q000379:methods*; D012507:Sarcoidosis / Q000175:diagnosis* / Q000188:drug therapy; D012529:Saudi Arabia; D016896:Treatment Outcome; D055815:Young Adult
chemical_list: D018501:Antirheumatic Agents