Autoinflammatory syndromes as causes of fever of unknown origin

Lachmann, HJ

doi:10.7861/clinmedicine.15-3-295

Cited by 20 publications

(25 citation statements)

References 23 publications

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“…Among these, JIA was most common, followed by SLE, as in our study21420). All of our 15 patients (15%) had JIA or SLE, while various CTD such as autoimmune cholangitis, polyarthritis nodosa, and rheumatic fever have been reported in another study25). It is well-known that CTD is more common in girls.…”

Section: Discussionsupporting

confidence: 67%

Etiology and clinical characteristics of fever of unknown origin in children: a 15-year experience in a single center

Kim

Kang

et al. 2017

Korean J Pediatr

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PurposeFever is one of the most common symptoms in children. In previous studies, infectious disease was the most common cause of pediatric fever of unknown origin (FUO). The aim of this study is to investigate the etiology, clinical characteristics and prognosis of pediatric FUO in 21 century with more diagnostics available and to analyze the factors for certain disease categories.MethodsAmong the children under 18 years old who were hospitalized at Samsung Medical Center from January 2000 to December 2014, the patients who met the criteria including fever of ≥38.0℃ for longer than ≥14 days and failure to reach a diagnosis after one week of investigations were included.ResultsTotal 100 patients were identified. Confirmed diagnosis was achieved in 57 patients (57%). Among them, infectious diseases (n=19, 19%) were most common, followed by connective tissue diseases (n=15, 15%), necrotizing lymphadenitis (n=8, 8%), and malignancies (n=7, 7%). Children with fever duration over 28 days had a trend for higher frequency of connective tissue diseases (28.3%) except undiagnosed etiology. The symptoms such as arthritis, lymph node enlargement and only fever without other symptoms were significantly related with connective tissue diseases, necrotizing lymphadenitis and undiagnosed respectively (P<0.001). Ninety-two patients have become afebrile at discharge and 1 patient died (1%).ConclusionAlmost half of our patients were left without diagnosis. Although it has been known that infectious disease was most common cause of pediatric FUO in the past, undiagnosed portion of FUO have now increased due to development of diagnostic techniques for infectious diseases.

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Section: Discussionsupporting

confidence: 67%

Etiology and clinical characteristics of fever of unknown origin in children: a 15-year experience in a single center

Kim

Kang

et al. 2017

Korean J Pediatr

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“…The increasing spectrum of autoinflammatory disorders has recently been reviewed [4–6]. For the clinician, a detailed history can provide invaluable information to differentiate between autoinflammatory disorders, as well as immunodeficiency or infection which also present in childhood, thereby reducing further delays in diagnosis and unnecessary diagnostic investigations.…”

Section: Discussionmentioning

confidence: 99%

Novel mutation identified in severe early-onset tumor necrosis factor receptor-associated periodic syndrome: a case report

2017

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BackgroundTumor Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS) is the second most common heritable autoinflammatory disease, typically presenting in pre-school aged children with fever episodes lasting 1–3 weeks. Systemic symptoms can include rash, myalgia, ocular inflammation, and serositis.Case presentationHere we report an unusual presentation of TRAPS in a 7 month old girl who presented with only persistent fever. She was initially diagnosed with incomplete Kawasaki Disease and received IVIG and infliximab; however, her fevers quickly recurred. Subsequent testing revealed a urinary tract infection, but she did not improve despite appropriate therapy. As fever continued, she developed significant abdominal distension with imaging concerning for appendicitis, followed by hyperthermia and hemodynamic instability. Given her protracted clinical course and maternal history of a poorly defined inflammatory condition, an autoinflammatory disease was considered. Therapy with anakinra was initiated, resulting in rapid resolution of fever and normalization of inflammatory markers. She was found to have a previously unreported mutation, Thr90Pro, in the TNFRSF1A gene associated with TRAPS. This novel mutation was also confirmed in the patient’s mother and maternal uncle.ConclusionsThis report reviews a severe case of TRAPS in infancy associated with a novel mutation, Thr90Pro, in the TNFRSF1A gene, and emphasizes that autoinflammatory disease should be considered in the differential of infants with fever of unknown origin.Electronic supplementary materialThe online version of this article (doi:10.1186/s12887-017-0856-2) contains supplementary material, which is available to authorized users.

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“…En el resto de los pacientes se presentan brotes cada 2 a 9 meses. Más del 95 % de los pacientes presentan fiebre, la que siempre se manifiesta en la edad pediátrica (54).…”

Section: Manifestaciones Clínicasunclassified

“…Los hallazgos cutáneos son de particular importancia en TRAPS, ya que se ha demostrado que ayudan a orientar el diagnóstico. Estos ocurren por lo general durante los primeros dos años de vida (54).…”

Section: Manifestaciones Cutáneasunclassified

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TRAPS, síndrome periódico asociado al receptor de necrosis tumoral: inmunopatogénesis y enfoque clínico

Moreno-Zuluaga

Velásquez‐Lopera

2018

iatreia

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Autoinflammatory syndromes as causes of fever of unknown origin

Cited by 20 publications

References 23 publications

Etiology and clinical characteristics of fever of unknown origin in children: a 15-year experience in a single center

Etiology and clinical characteristics of fever of unknown origin in children: a 15-year experience in a single center

Novel mutation identified in severe early-onset tumor necrosis factor receptor-associated periodic syndrome: a case report

TRAPS, síndrome periódico asociado al receptor de necrosis tumoral: inmunopatogénesis y enfoque clínico

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