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1.
Clin Invest Med ; 37(4): E211-6, 2014 Aug 01.
Artículo en Inglés | MEDLINE | ID: mdl-25090260

RESUMEN

PURPOSE: Vitamin D deficiency or insufficiency plays a role in the initiation and perpetuation of certain autoimmune diseases. The purpose of this study was to measure the vitamin D status of children with Familial Mediterranean Fever (FMF) and compare it to their healthy peers. METHODS: A total of 50 FMF patients and 49 healthy children were enrolled in this prospective study. Vitamin D levels were measured via HPLC. Demographic data, FMF symptom severity scores and the levels of other disease activity markers were retrieved from our hospital database. RESULTS: The mean age and gender balance of patients and controls were similar, being 8.4 ± 3.8 years and 19 male patients, and 9.1 ± 3.0 years and 25 male controls, respectively. The mean 25(-OH) vitamin D3 levels were 15.94 ± 9.66 µg/L in FMF patients and 41.22 ± 21.31 µg/L in controls. Vitamin D levels were normal in 12% of FMF patients, insufficient in 62% and deficient in 26%. No vitamin D deficiency was evident in any control subject; 30% had insufficient and 70% had normal vitamin D levels. Plasma vitamin D3 levels were similar in all patients despite varying FMF symptom severity scores. CONCLUSIONS: Vitamin D deficiency is frequent in children with FMF but is not associated with disease severity score.


Asunto(s)
Fiebre Mediterránea Familiar/sangre , Deficiencia de Vitamina D/sangre , Vitamina D/sangre , Niño , Fiebre Mediterránea Familiar/epidemiología , Femenino , Humanos , Masculino , Estudios Prospectivos , Deficiencia de Vitamina D/epidemiología
2.
J Pediatr Genet ; 11(2): 91-98, 2022 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-35769958

RESUMEN

Objectives The aim of this study was to identify the genotypic analysis and allele frequencies of the -173 G/C polymorphism in the macrophage migration inhibitory factor ( MIF ) gene in children diagnosed with familial Mediterranean fever (FMF). Methods The study included 98 children who were diagnosed with FMF according to the Tel Hashomer criteria and one hundred and 57 healthy children as the control group. Genotyping was done for a polymorphism in a promoter region of the MIF gene (G/C at position -173). Results The relationship of FMF prevalence and -173 G/C genotype of the MIF gene was statistically significant. Individuals with the CC genotype seem to be predisposed to FMF. Conclusion The C/C polymorphism at position -173 of the MIF gene could be associated with excessive inflammation and immune response and can lead to susceptibility to FMF.

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