Differentiating PFAPA Syndrome From Monogenic Periodic Fevers
| العنوان: | Differentiating PFAPA Syndrome From Monogenic Periodic Fevers |
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| المؤلفون: | Roberta Caorsi, Joost Frenkel, Rita Consolini, Alberto Martini, Alberto Tommasini, Maria Pia Sormani, Francesco Zulian, Marco Gattorno, Maurizia Baldi, Gabriele Simonini, Elisabetta Cortis, MA Pelagatti, Marco Cattalini, Alessandro Plebani, G Calcagno, Silvia Federici, Isabella Ceccherini, Antonella Meini |
| المساهمون: | Gattorno, M., Caorsi, R., Meini, A., Cattalini, M., Federici, S., Zulian, F., Cortis, E., Calcagno, G., Tommasini, A., Consolini, R., Simonini, G., Pelagatti, M. A., Baldi, M., Ceccherini, I., Plebani, A., Frenkel, J., Sormani, M. P., Martini, A. |
| المصدر: | Università degli studi di Firenze-IRIS |
| بيانات النشر: | American Academy of Pediatrics (AAP), 2009. |
| سنة النشر: | 2009 |
| مصطلحات موضوعية: | Male, Abdominal pain, Familial Mediterranean fever, Receptors, Tumor Necrosis Factor, Cohort Studies, Diagnosis, Receptors, differential diagnosis, Child, Preschool, Cohort Studies, Diagnosi, Mevalonate kinase deficiency, medicine.diagnostic_test, PFAPA, Pharyngitis, Aphthous, Syndrome, MEFV, Child, Child, Familial Mediterranean Fever, Phosphotransferases (Alcohol Group Acceptor), Child, Preschool, Female, Stomatitis, Aphthous, medicine.symptom, Tumor Necrosis Factor, Stomatiti, medicine.medical_specialty, PFAPA syndrome, Aphthous, Syndrome, Fever of Unknown Origin, Diagnosis, Differential, Lymphadenitis, Internal medicine, medicine, Humans, Genetic Predisposition to Disease, Preschool, Genetic testing, Preschool, Cohort Studies, Diagnosis, Differential, Familial Mediterranean Fever, Female, Fever of Unknown Origin, Gene Expression Regulation, Genetic Predisposition to Disease, Humans, Lymphadenitis, Male, Mutation, Pharyngitis, Phosphotransferases (Alcohol Group Acceptor), Receptors, Tumor Necrosis Factor, Stomatitis, Stomatitis, business.industry, medicine.disease, Differential, Familial Mediterranean Fever, Female, Fever of Unknown Origin, Gene Expression Regulation, Genetic Predisposition to Disease, Humans, Lymphadenitis, Male, Mutation, Pharyngitis, Phosphotransferases (Alcohol Group Acceptor), Receptor, Gene Expression Regulation, Differential, Mutation, Pediatrics, Perinatology and Child Health, Immunology, Periodic fever, aphthous stomatitis, pharyngitis and adenitis, Tumor Necrosis Factor, business |
| الوصف: | OBJECTIVES: To analyze whether there were clinical differences between genetically positive and negative patients fulfilling periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome criteria and to test the accuracy of the Gaslini diagnostic score for identifying patients with PFAPA syndrome with higher probabilities of carrying relevant mutations in genes associated with periodic fevers. METHODS: Complete clinical and genetic information was available for 393 children with periodic fever; 82 had positive genetic test results, 75 had incomplete genetic test results, and 236 had negative results for MVK, TNFRSF1A, and MEFV mutations. Current diagnostic criteria for PFAPA syndrome were applied. RESULTS: Of 393 children, 210 satisfied PFAPA syndrome criteria; 43 carried diagnostic mutations (mevalonate kinase deficiency: n = 33; tumor necrosis factor receptor-associated periodic syndrome: n = 3; familial Mediterranean fever: n = 7), 37 displayed low-penetrance mutations or incomplete genotypes, and 130 demonstrated negative genetic testing results. Genetically positive patients had higher frequencies of abdominal pain and diarrhea (P < .001), vomiting (P = .006), and cutaneous rash and arthralgia (P = .01). Genetically negative patients had a higher frequency of exudative pharyngitis (P = .010). Genetically undetermined patients showed the same pattern of symptom frequency as genetically negative patients. The Gaslini diagnostic score was able to identify 91% of genetically positive patients correctly, with a global accuracy of 66%. CONCLUSION: The Gaslini diagnostic score represents a useful tool to identify patients meeting PFAPA syndrome criteria and at low risk of carrying relevant mutations in genes associated with periodic fevers. |
| تدمد: | 1098-4275 0031-4005 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63b14315db42506cb3d4594d2a1f72a8Test https://doi.org/10.1542/peds.2009-0088Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....63b14315db42506cb3d4594d2a1f72a8 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 10984275 00314005 |
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