Tumor Necrosis Factor Receptor–Associated Periodic Syndrome

Renal amyloidosis is a detrimental disease caused by the deposition of amyloid fibrils. A child with renal amyloidosis may present with proteinuria or nephrotic syndrome. Chronic renal failure may follow. Amyloid fibrils may deposit in other organs as well. The diagnosis is through the typical appearance on histopathology. Although chronic infections and chronic inflammatory diseases used to be the causes of secondary amyloidosis in children, the most frequent cause is now autoinflammatory diseases. Among this group of diseases, the most frequent one throughout the world is familial Mediterranean fever (FMF). FMF is typically characterized by attacks of clinical inflammation in the form of fever and serositis and high acute-phase reactants. Persisting inflammation in inadequately treated disease is associated with the development of secondary amyloidosis. The main treatment is colchicine. A number of other monogenic autoinflammatory diseases have also been identified. Among them cryopyrin-associated periodic syndrome (CAPS) is outstanding with its clinical features and the predilection to develop secondary amyloidosis in untreated cases. The treatment of secondary amyloidosis mainly depends on the treatment of the disease. However, a number of new treatments for amyloid per se are in the pipeline.

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“…Ocular inflammation with per-orbital edema or conjunctivitis is common. Arthralgia is more prominent than arthritis [82, 85]. …”

Section: Underlying Causes Of Secondary Amyloidosismentioning

confidence: 99%

Renal amyloidosis in children

2011

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“…Chest pain can be caused by either aseptic pleural inflammation, or elective involvement of thoracic muscles: the overall duration of symptoms of polyserositis may vary from a few days to several weeks, much longer than that in FMF, usually accompanied by high-grade fever and resolving without any specific treatment [26]. Pleuritic chest pain was described for the first time in 40% of children with a genetically confirmed diagnosis of TRAPS, recruited by the National Institute of Health Clinical Centre in Bethesda [27]. Pelagatti et al reported the clinical features of 11 Italian patients with TRAPS, aiming to analyze the long-term impact of the R92Q TNFRSF1A mutation in these children, who displayed a lower frequency of typical TRAPS manifestations, and they noted that recurrent febrile thoracic pain/pleuritis occurred in 27.2% of cases [28].…”

Section: Tumor Necrosis Factor Receptor-associated Periodic Syndromementioning

confidence: 99%

Lung Involvement in Children with Hereditary Autoinflammatory Disorders

Tarantino

Esposito

Andreozzi

et al. 2016

IJMS

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Short-lived systemic inflammatory reactions arising from disrupted rules in the innate immune system are the operating platforms of hereditary autoinflammatory disorders (HAIDs). Multiple organs may be involved and aseptic inflammation leading to disease-specific phenotypes defines most HAIDs. Lungs are infrequently involved in children with HAIDs: the most common pulmonary manifestation is pleuritis in familial Mediterranean fever (FMF) and tumor necrosis factor receptor-associated periodic syndrome (TRAPS), respectively caused by mutations in the MEFV and TNFRSF1A genes, while interstitial lung disease can be observed in STING-associated vasculopathy with onset in infancy (SAVI), caused by mutations in the TMEM173 gene. The specific pleuropulmonary diseases may range from sub-clinical abnormalities during inflammatory flares of FMF and TRAPS to a severe life-threatening disorder in children with SAVI.

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“…Sometimes, in addition to fever, the attacks are characterized by severe abdominal pain, which may mimic a surgical emergency. Cutaneous manifestations are present in 87% of patients during attacks [33]. Most patients exhibit localized painful erythematous macules and patches that tend to migrate to the distal parts of the extremities.…”

Section: Clinical Considerations and Treatmentmentioning

confidence: 99%

Clinical Genetic Testing of Periodic Fever Syndromes

Marcuzzi

Piscianz

Kleiner

et al. 2013

BioMed Research International

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Periodic fever syndromes (PFSs) are a wide group of autoinflammatory diseases. Due to some clinical overlap between different PFSs, differential diagnosis can be a difficult challenge. Nowadays, there are no universally agreed recommendations for most PFSs, and near half of patients may remain without a genetic diagnosis even after performing multiple-gene analyses. Molecular analysis of periodic fevers' causative genes can improve patient quality of life by providing early and accurate diagnosis and allowing the administration of appropriate treatment. In this paper we focus our discussion on effective usefulness of genetic diagnosis of PFSs. The aim of this paper is to establish how much can the diagnostic system improve, in order to increase the success of PFS diagnosis. The mayor expectation in the near future will be addressed to the so-called next generation sequencing approach. Although the application of bioinformatics to high-throughput genetic analysis could allow the identification of complex genotypes, the complexity of this definition will hardly result in a clear contribution for the physician. In our opinion, however, to obtain the best from this new development a rule should always be kept well in mind: use genetics only to answer specific clinical questions.

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Tumor Necrosis Factor Receptor–Associated Periodic Syndrome

Cited by 130 publications

References 66 publications

Renal amyloidosis in children

Renal amyloidosis in children

Lung Involvement in Children with Hereditary Autoinflammatory Disorders

Clinical Genetic Testing of Periodic Fever Syndromes

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