A diagnostic score for molecular analysis of hereditary autoinflammatory syndromes with periodic fever in children

Autor: Maria Pia Sormani, Laura Obici, Nicoletta Solari, Isabelle Touitou, Isabelle Koné-Paut, Andrea D'Osualdo, Maurizia Baldi, Luciana Breda, Grazia Bossi, MA Pelagatti, Alberto Tommasini, Silvia Federici, Antonella Meini, A. Govers, Massimiliano Cecconi, Isabella Ceccherini, Silvana Martino, Francesco Zulian, Marco Gattorno, Francesco Caroli, P Woo, J. Frenkel, Alberto Martini
Přispěvatelé: Institut de génétique humaine (IGH), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Gattorno, M., Sormani, M. P., D'Osualdo, A., Pelagatti, M. A., Caroli, F., Federici, S., Cecconi, M., Solari, N., Meini, A., Zulian, F., Obici, L., Breda, L., Martino, S., Tommasini, A., Bossi, G., Govers, A., Touitou, I., Woo, P., Frenkel, J., Koné Paut, I., Baldi, M., Ceccherini, I., Martini, A.
Jazyk: angličtina
Rok vydání: 2008
Předmět:
Abdominal pain
Multivariate analysis
Type I
Familial Mediterranean fever
Severity of Illness Index
Type I
Sensitivity and Specificity
Severity of Illness Index
Stomatiti
Cohort Studies
0302 clinical medicine
Receptors
Immunology and Allergy
Medicine
Pharmacology (medical)
030212 general & internal medicine
Family history
Child
ComputingMilieux_MISCELLANEOUS
medicine.diagnostic_test
Adolescent
Adult
Age Factors
Aged
Algorithms
Child
Child
Preschool
Cohort Studies
Cytoskeletal Proteins
Diarrhea
Familial Mediterranean Fever
Humans
Infant
Middle Aged
Pain
Phosphotransferases (Alcohol Group Acceptor)
Receptors
Tumor Necrosis Factor
Type I
Sensitivity and Specificity
Severity of Illness Index
Stomatitis
Aphthous
Age Factors
Middle Aged
MEFV
3. Good health
Preschool
Cohort Studies
Cytoskeletal Proteins
Diarrhea
Familial Mediterranean Fever
Humans
Infant
Middle Aged
Pain
Phosphotransferases (Alcohol Group Acceptor)
Receptor
Familial Mediterranean Fever
Phosphotransferases (Alcohol Group Acceptor)
TNF receptor associated periodic syndrome
Receptors
Tumor Necrosis Factor
Type I
Child
Preschool
Stomatitis
Aphthous
medicine.symptom
Algorithms
Adult
Diarrhea
medicine.medical_specialty
Adolescent
Immunology
Pain
Aged
Cytoskeletal Proteins
Humans
Infant
Pyrin
Sensitivity and Specificity
03 medical and health sciences
Rheumatology
Internal medicine
Preschool
Genetic testing
030203 arthritis & rheumatology
Stomatitis
business.industry
Odds ratio
medicine.disease
[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics
business
Zdroj: Arthritis and Rheumatism
Arthritis and Rheumatism, Wiley, 2008, 58 (6), pp.1823-1832. ⟨10.1002/art.23474⟩
ISSN: 0004-3591
1529-0131
DOI: 10.1002/art.23474⟩
Popis: OBJECTIVE: To identify a set of clinical parameters that can predict the probability of carrying mutations in one of the genes associated with hereditary autoinflammatory syndromes. METHODS: A total of 228 consecutive patients with a clinical history of periodic fever were screened for mutations in the MVK, TNFRSF1A, and MEFV genes, and detailed clinical information was collected. A diagnostic score was formulated based on univariate and multivariate analyses in genetically positive and negative patients (training set). The diagnostic score was validated in an independent set of 77 patients (validation set). RESULTS: Young age at onset (odds ratio [OR] 0.94, P = 0.003), positive family history of periodic fever (OR 4.1, P = 0.039), thoracic pain (OR 4.6, P = 0.05), abdominal pain (OR 33.1, P < 0.001), diarrhea (OR 3.3, P = 0.028), and oral aphthosis (OR 0.2, P = 0.007) were found to be independently correlated with a positive genetic test result. These variables were combined in a linear score whose ability to predict a positive result on genetic testing was validated in an independent data set. In this latter set, the diagnostic score revealed high sensitivity (82%) and specificity (72%) for discriminating patients who were genetically positive from those who were negative. In patients with a high probability of having a positive result on genetic testing, a regression tree analysis provided the most reasonable order in which the genes should be screened. CONCLUSION: The proposed approach in patients with periodic fever will increase the probability of obtaining positive results on genetic testing, with good specificity and sensitivity. Our results further help to optimize the molecular analysis by suggesting the order in which the genes should be screened.
Databáze: OpenAIRE
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