Demirkaya Erkan, Saglam Celal, Turker Turker, Koné-Paut Isabelle, Woo Pat, Doglio Matteo, Amaryan Gayane, Frenkel Joost, Uziel Yosef, Insalaco Antonella, Cantarini Luca, Hofer Michael, Boiu Sorina, Duzova Ali, Modesto Consuelo, Bryant Annette, Rigante Donato, Papadopoulou-Alataki Efimia, Guillaume-Czitrom Severine, Kuemmerle-Deschner Jasmine, Neven Bénédicte, Lachmann Helen, Martini Alberto, Ruperto Nicolino, Gattorno Marco, Ozen Seza
From the Familial Mediterranean Fever Arthritis Vasculitis and Orphan Disease Research Center (FAVOR), Gulhane Military Medical Faculty; Epidemiology, Gulhane Military Medical Faculty, Ankara, Turkey; Centre de référence national des maladies auto-inflammatoires, CEREMAI, Rhumatologie pédiatrique, CHU Le Kremlin Bicêtre (APHP, University of Paris SUD), Paris, France; Center of Paediatric and Adolescent Rheumatology, UCL, London, UK; Istituto Giannina Gaslini, UO Pediatria II, Reumatologia, Genoa, Italy; Arabkir Medical Centre, Institute of Child and Adolescents Health, Yerevan, Armenia; Department of Paediatrics, University Medical Center Utrecht, Utrecht, Netherlands; Pediatrics, Meir Medical Centre, Kfar Saba, Israel; Division of Rheumatology, Department of Pediatric Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome; Rheumatology Unit, Policlinico le Scotte, University of Siena, Siena, Italy; Pediatrie, Centre Multisite Romand de Rhumatologie Pediatrique/Centre Hospitalier, Universitaire Vaudois (CHUV), Lausanne, Switzerland; Pediatric Rheumatology, Université Paris-Descartes, Paris, France; Pediatric Rheumatology, Hacettepe University, School of Medicine, Ankara, Turkey; Reumatologia, Hospital Valle de Hebron, Barcelona, Spain; Pediatrics, Università Cattolica Sacro Cuore, Rome, Italy; Fourth Department of Pediatrics, Aristotle University of Thessaloniki Papageorgiou Hospital, Thessaloniki, Greece; Universitatsklinik fur Kinderheilkunde und Jugendmedizin, Tübingen, Germany; Université Paris-Descartes, Hôpital Necker-Enfants Malades, Centre de référence national pour les Arthrites Juveniles, Unité d'Immunologie, Hématologie et Rhumatologie Pédiatrique, Université Descartes, Sorbonne Paris Cité, Institut IMAGINE, Paris, France; National Amyloidosis Centre, University College London Medical School, Royal Free Campus, London, UK.E. Demirkaya, MD, MSc, FAVOR, Gulhane Military Medical Faculty; C. Saglam, MD, FAVOR, Gulhane Military Medical Facult
J Rheumatol. 2016 Jan;43(1):154-60. doi: 10.3899/jrheum.141249. Epub 2015 Nov 15.
Our aims were to validate the pediatric diagnostic criteria in a large international registry and to compare them with the performance of previous criteria for the diagnosis of familial Mediterranean fever (FMF).
Pediatric patients with FMF from the Eurofever registry were used for the validation of the existing criteria. The other periodic fevers served as controls: mevalonate kinase deficiency (MKD), tumor necrosis factor receptor-associated periodic syndrome (TRAPS), cryopyrin-associated periodic syndrome (CAPS), aphthous stomatitis, pharyngitis, adenitis syndrome (PFAPA), and undefined periodic fever from the same registry. The performances of Tel Hashomer, Livneh, and the Yalcinkaya-Ozen criteria were assessed.
The FMF group included 339 patients. The control group consisted of 377 patients (53 TRAPS, 45 MKD, 32 CAPS, 160 PFAPA, 87 undefined periodic fevers). Patients with FMF were correctly diagnosed using the Yalcinkaya-Ozen criteria with a sensitivity rate of 87.4% and a specificity rate of 40.7%. On the other hand, Tel Hashomer and Livneh criteria displayed a sensitivity of 45.0 and 77.3%, respectively. Both of the latter criteria displayed a better specificity than the Yalcinkaya-Ozen criteria: 97.2 and 41.1% for the Tel Hashomer and Livneh criteria, respectively. The overall accuracy for the Yalcinkaya-Ozen criteria was 65 and 69.6% (using 2 and 3 criteria), respectively. Ethnicity and residence had no effect on the performance of the Yalcinkaya-Ozen criteria.
The Yalcinkaya-Ozen criteria yielded a better sensitivity than the other criteria in this international cohort of patients and thus can be used as a tool for FMF diagnosis in pediatric patients from either the European or eastern Mediterranean region. However, the specificity was lower than the previously suggested adult criteria.
我们的目的是在一个大型国际登记处验证小儿诊断标准，并将其与先前家族性地中海热（FMF）诊断标准的性能进行比较。
来自欧洲发热登记处的FMF小儿患者用于验证现有标准。其他周期性发热作为对照：甲羟戊酸激酶缺乏症（MKD）、肿瘤坏死因子受体相关周期性综合征（TRAPS）、冷吡啉相关周期性综合征（CAPS）、复发性阿弗他口炎、咽炎、腺炎综合征（PFAPA）以及来自同一登记处的不明原因周期性发热。评估了特尔哈绍梅尔（Tel Hashomer）、利夫内（Livneh）和亚尔钦卡亚 - 奥曾（Yalcinkaya - Ozen）标准的性能。
FMF组包括339例患者。对照组由377例患者组成（53例TRAPS、45例MKD、32例CAPS、160例PFAPA、87例不明原因周期性发热）。使用亚尔钦卡亚 - 奥曾标准正确诊断FMF患者的灵敏度为87.4%，特异度为40.7%。另一方面，特尔哈绍梅尔和利夫内标准的灵敏度分别为45.0%和77.3%。后两者标准的特异度均高于亚尔钦卡亚 - 奥曾标准：特尔哈绍梅尔标准和利夫内标准的特异度分别为97.2%和41.1%。亚尔钦卡亚 - 奥曾标准的总体准确率分别为65%和69.6%（使用2项和3项标准）。种族和居住地对亚尔钦卡亚 - 奥曾标准的性能没有影响。
在这个国际患者队列中，亚尔钦卡亚 - 奥曾标准的灵敏度优于其他标准，因此可作为诊断欧洲或东地中海地区小儿患者FMF的工具。然而，其特异度低于先前建议的成人标准。
