Molecular genetic analysis for periodic fever syndromes: a supplemental role for the diagnosis of adult-onset Still's disease
| Autor: | Hongbin Li, Irina Abramova, Sandra Chesoni, Qingping Yao |
|---|---|
| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
medicine.medical_specialty Pediatrics Nod2 Signaling Adaptor Protein Arthritis Disease 03 medical and health sciences 0302 clinical medicine Rheumatology Internal medicine medicine Humans Genetic Predisposition to Disease Genetic testing 030203 arthritis & rheumatology medicine.diagnostic_test business.industry Hereditary Autoinflammatory Diseases General Medicine Pyrin medicine.disease MEFV Systemic-onset juvenile idiopathic arthritis Diagnosis of exclusion Arthritis Juvenile Phosphotransferases (Alcohol Group Acceptor) 030104 developmental biology Receptors Tumor Necrosis Factor Type I Mutation Periodic fever syndrome business Still's Disease Adult-Onset |
| Zdroj: | Clinical rheumatology. 37(8) |
| ISSN: | 1434-9949 |
| Popis: | Adult-onset Still’s disease (AOSD) represents a systemic autoinflammatory disease (SAID), and its diagnostic criteria are clinical without genetic testing. Given shared manifestations between AOSD and hereditary SAIDs, molecular analysis may help differentiate these diseases. A PubMed literature search was conducted using key words “adult-onset Still’s disease,” “autoinflammatory disease,” and “genetic mutation” between 1970 and February 2018. Articles on genetic mutations in the genes MEFV, TNFRSF1A, mevalonate kinase, or NOD2 for hereditary SAIDs in AOSD/systemic onset juvenile idiopathic arthritis (SJIA) patients were reviewed and analyzed. Five case series studies consisting of a total of 162 of both adult and pediatric patients were included. All patients fulfilled the Yamaguchi criteria for AOSD or the diagnostic criteria for SJIA. The results showed that 31.4% (51/162) of patients were identified to carry at least one genetic variant for periodic fever syndromes. In addition, four patients with the diagnosis of SJIA in other reports were confirmed to have FMF or TRAPS with molecular testing. These data together suggest that some patients who satisfy the clinical diagnostic criteria for AOSD/SOJIA could well be diagnosed with other SAIDs; genetic testing, particularly for those with atypical presentation can be supplementary to the accurate disease diagnosis by excluding other autoinflammatory diseases. AOSD is a diagnosis of exclusion and shares common manifestations with other SAIDs. The currently employed clinical criteria for AOSD can cause misdiagnosis. An updated set of classification criteria to integrate the molecular genetic analysis to exclude other autoinflammatory diseases is warranted. |
| Databáze: | OpenAIRE |
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