The MEFV gene and its association with familial Mediterranean fever, severe atopy, and recurrent respiratory tract infections.
Allergol Immunopathol (Madr)
; 48(5): 430-440, 2020.
Article
em En
| MEDLINE
| ID: mdl-32359823
ABSTRACT
BACKGROUND:
Familial Mediterranean fever (FMF) is the most common auto-inflammatory disease and is characterized by self-limiting episodes of fever and polyserositis. The aim of this study was to determine the atopic clinical findings associated with the MEFV gene.METHODS:
A retrospective chart review was conducted of pediatric patients who had received a diagnosis of familial Mediterranean fever between August 2015 and November 2018.RESULTS:
A total of 454 patients with familial Mediterranean fever were evaluated. The median age of diagnosis was 60 months (min-max 6-228) and the percentage of patients who were male was 57.5%. A MEFV gene mutation was determined in 310 (68.3%) children. The most frequent genetic mutation was a R202Q heterozygote mutation, which was found in 95 patients (20.9%). When compared with MEFV-negative patients, elevation of serum amyloid A and fibrinogen levels during an episode of FMF was found to occur more frequently in MEFV-positive patients (p=0.019 and 0.027, respectively). Male gender, cigarette exposure, and a younger diagnosis age were seen more frequently in patients who had episodes with fever (p=0.039, 0.022, and 0.001, respectively). Chronic cough with sputum and persistent purulent rhinitis were more frequent in the group which did not experience fever episodes (p=0.003 and 0.002, respectively).CONCLUSIONS:
While being a periodic fever syndrome, familial Mediterranean fever also presents as a multisystemic disease with heterogeneous clinical symptoms. Severe atopic diseases and recurrent respiratory tract infections are characteristic features of this disease.Palavras-chave
Texto completo:
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Base de dados:
MEDLINE
Assunto principal:
Febre Familiar do Mediterrâneo
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Infecções Respiratórias
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Pirina
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Hipersensibilidade Imediata
Tipo de estudo:
Diagnostic_studies
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Observational_studies
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Prognostic_studies
Limite:
Adolescent
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Adult
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Child
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Child, preschool
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Female
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Humans
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Infant
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Male
Idioma:
En
Ano de publicação:
2020
Tipo de documento:
Article