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Validation of a diagnostic score for the diagnosis of autoinflammatory diseases in adults
- Source :
- Scopus-Elsevier, Università degli studi di Firenze-IRIS, Europe PubMed Central
-
Abstract
- Most autoinflammatory disorders typically come out in the pediatric population, although a limited number of patients may experience disease onset during adulthood. To date, a late disease onset has been described only in familial Mediterranean fever, caused by mutations in the MEFV gene, and in tumor necrosis factor receptor-associated periodic syndrome, caused by mutations in the TNFRSF1A gene. The relative rarity and lack of information on adult-onset autoinflammatory diseases make it likely that mutations will be found in an even smaller percentage of cases. With the aim of improving the genetic diagnosis in adults with suspected autoinflammatory disorders, we recently identified a set of variables related to the probability of detecting gene mutations in MEFV and TNFRSF1A and, in addition, we have also proposed a diagnostic score for identifying those patients at high risk of carrying mutations in these genes. In the present study we evaluated the preliminary score sensitivity and specificity on a wider number of patients in order to validate the goodness of fit of the model. Two hundred and nineteen consecutive patients with a clinical history of periodic fever attacks were screened for mutations in MEFV and TNFRSF1A genes; detailed information about family/personal history and clinical manifestations were also collected. For the validation of the score we considered data both from the 110 patients used to build the preliminary diagnostic score and from the additional 219 patients enrolled in the present study, for a total number of 329 patients. Early age at disease onset, positive family history for recurrent fever episodes, thoracic pain, abdominal pain and skin rash, which are the variables that had previously been shown to be significantly associated with a positive genetic test result (12), were used for validation. On univariate analysis the associations with a positive genetic test were: age at onset (odds ratio [OR] 0.43, p=0.003), positive family history for recurrent fever episodes (OR 5.81, p
- Subjects :
- Male
Abdominal pain
Pathology
DNA Mutational Analysis
Familial Mediterranean fever
Gene mutation
Odds Ratio
Immunology and Allergy
Age of Onset
Family history
Child
Univariate analysis
Middle Aged
MEFV
Rash
Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA
Receptors, Tumor Necrosis Factor, Type I
Child, Preschool
Female
medicine.symptom
Human
Adult
Heterozygote
Autoinflammatory disease
medicine.medical_specialty
Logistic Model
Adolescent
European Continental Ancestry Group
Immunology
Reproducibility of Result
Models, Biological
White People
DNA Mutational Analysi
Young Adult
Internal medicine
medicine
Humans
Genetic Predisposition to Disease
Aged
Maximal Expiratory Flow-Volume Curves
Pharmacology
business.industry
Hereditary Autoinflammatory Diseases
Gene Amplification
Infant
Reproducibility of Results
DNA
Odds ratio
medicine.disease
Hereditary Autoinflammatory Disease
Logistic Models
ROC Curve
Maximal Expiratory Flow-Volume Curve
business
Subjects
Details
- Database :
- OpenAIRE
- Journal :
- Scopus-Elsevier, Università degli studi di Firenze-IRIS, Europe PubMed Central
- Accession number :
- edsair.doi.dedup.....6dc2b7d80bfae89c20c6ea38a90d355a