Unravelling the clinical heterogeneity of undefined recurrent fever over time in the European registries on Autoinflammation

被引：0

作者：

Vyzhga, Y. ^{[1
]}

Wittkowski, H. ^{[2
]}

Hentgen, V. ^{[3
]}

Georgin-Lavialle, S. ^{[4
,5
]}

Theodoropoulou, A. ^{[6
]}

Fuehner, S. ^{[2
]}

Jesenak, M. ^{[7
]}

Frenkel, J. ^{[8
]}

Papadopoulou-Alataki, E. ^{[9
]}

Anton, Jordi ^{[10
]}

Olivieri, A. Nunzia ^{[11
]}

Brunner, J. ^{[12
,13
]}

Sanchez, J. ^{[14
]}

Kone-Paut, I. ^{[15
]}

Fingerhutova, S. ^{[16
,17
]}

Pillet, P. ^{[18
]}

Meinzer, U. ^{[19
]}

Khubchandani, R. ^{[20
]}

Jansson, A. ^{[21
]}

Haas, J. -P. ^{[22
]}

Berendes, R. ^{[23
]}

Kallinich, T. ^{[24
,25
]}

Horneff, G. ^{[26
]}

Lilienthal, E. ^{[27
]}

Papa, R. ^{[28
]}

Foell, D. ^{[2
]}

Lainka, E. ^{[29
]}

Caorsi, R. ^{[28
]}

Gattorno, M. ^{[28
]}

Hofer, M. ^{[6
]}

机构：

[1] Natl Pirogov Mem Med Univ, Vinnytsya, Ukraine

[2] Univ Hosp Munster, Dept Pediat Rheumatol & Immunol, Munster, Germany

[3] Versailles Hosp, Natl Referral Ctr Autoinflammatory Dis & Inflamma, Dept Pediat, Paris, France

[4] CEREMAIA French Reference Ctr Autoinflammatory Di, Le Kremlin Bicetre, France

[5] Sorbonne Univ, Tenon Hosp, APHP, Dept Internal Med, Paris, France

[6] Ctr Hosp Univ Vaudois CHUV, Dept Pediat, Lausanne, Switzerland

[7] Comenius Univ, Univ Hosp Martin, Jesenius Fac Med Martin, Dept Peadiat & Adolescent Med, Martin, Slovakia

[8] Wilhelmina Childrens Hosp, Dept Pediat Immunol & Rheumatol, Utrecht, Netherlands

[9] Aristotle Univ Thessaloniki, Papageorgiou Gen Hosp, Sch Med, Fac Hlth Sci,Dept Pediat, Thessaloniki, Greece

[10] Univ Barcelona, Hosp St Joan de Deu, Inst Recerca St Joan de Deu, Dept Pediat Rheumatol, Barcelona, Spain

[11] Univ Campania LVanvitelli, Dipartimento Donna Bambino & Chirurg Gen & Specia, Naples, Italy

[12] Med Univ Innsbruck, Dept Pediat, Pediat Rheumatol, Innsbruck, Austria

[13] Danube Private Univ Krems, Innsbruck, Austria

[14] Hosp Parc Tauli de Sabadell, Reumatol Pediat, Serv Med Pediat, Barcelona, Spain

[15] Univ Paris Sud, CEREMAIA, Natl Referral Ctr Autoinflammatory Dis & Inflamma, Dept Pediat Rheumatol,CHU Bicetre,APHP, Le Kremlin Bicetre, France

[16] Charles Univ Prague, Fac Med 1, Ctr Paediat Rheumatol & Autoinflammatory Dis, Dept Paediat & Inherited Metab Disorders, Prague, Czech Republic

[17] Gen Univ Hosp, Prague, Czech Republic

[18] CHU Pellegrin, Pediat & Immunol, Bordeaux, France

[19] Univ Paris, Robert Debre Univ Hosp, Assistance Publ Hop Paris, Dept Gen Pediat Paediat Infect Dis & Internal Med, Paris, France

[20] Jaslok Hosp, Dept Pediat, Mumbai, India

[21] Univ Hosp Munich, Dr Von Hauner Childrens Hosp, Div Pediat Rheumatol & Immunol, Munich, Germany

[22] German Ctr Paediat & Adolescent Rheumatol, Garmisch Partenkirchen, Germany

[23] Marien Childrens Hosp, Landshut, Germany

[24] Charite Univ Med Berlin, German Rheumatism Res Ctr, Leibniz Inst Berlin, Paediat Pneumol Immunol & Crit Care Med, Berlin, Germany

[25] SPZ Ctr Chronically Sick Children, Berlin, Germany

[26] Asklepios Clin Sankt Augustin GmbH, Dept Pediat, St Augustin, Germany

[27] Ruhr Univ Bochum, Dept Pediat, Bochum, Germany

[28] IRCCS Ist Giannina Gaslini, Ctr Autoinflammatory Dis & Immunodeficiencies, Genoa, Italy

[29] Univ Childrens Hosp Essen, Dept Pediat Rheumatol, Essen, Germany

来源：

PEDIATRIC RHEUMATOLOGY | 2024年 / 22卷 / 01期

关键词：

Autoinflammatory diseases; PFAPA; SURF; Eurofever; JIR-cohort; AID-Net; CERVICAL ADENITIS SYNDROME; APHTHOUS STOMATITIS; PERIODIC FEVER; DISEASES; COHORT; PHARYNGITIS;

D O I：

10.1186/s12969-024-00987-z

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Background Systemic autoinflammatory disorders (SAIDs) represent a growing spectrum of diseases characterized by dysregulation of the innate immune system. The most common pediatric autoinflammatory fever syndrome, Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis (PFAPA), has well defined clinical diagnostic criteria, but there is a subset of patients who do not meet these criteria and are classified as undefined autoinflammatory diseases (uAID). This project, endorsed by PRES, supported by the EMERGE fellowship program, aimed to analyze the evolution of symptoms in recurrent fevers without molecular diagnosis in the context of undifferentiated AIDs, focusing on PFAPA and syndrome of undifferentiated recurrent fever (SURF), using data from European AID registries.Methods Data of patients with PFAPA, SURF and uSAID were collected from 3 registries including detailed epidemiological, demographic and clinical data, results of the genetic testing and additional laboratory investigations with retrospective application of the modified Marshall and PRINTO/Eurofever classification criteria on the cohort of PFAPA patients and preliminary SURF criteria on uSAID/SURF patients.Results Clinical presentation of PFAPA is variable and some patients did not fit the conventional PFAPA criteria and exhibit different symptoms. Some patients did not meet the criteria for either PFAPA or SURF, highlighting the heterogeneity within these groups. The study also explored potential overlaps between PFAPA and SURF/uAID, revealing that some patients exhibited symptoms characteristic of both conditions, emphasizing the need for more precise classification criteria.Conclusions Patients with recurrent fevers without molecular diagnoses represent a clinically heterogeneous group. Improved classification criteria are needed for both PFAPA and SURF/uAID to accurately identify and manage these patients, ultimately improving clinical outcomes.

引用

页数：13

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