Prevalência da insuficiência/deficiência de vitamina D em Pacientes portadores de fibrose cística: associação com o Perfil inflamatório e polimorfismo foki do gene VDR

• Autor(a) principal: Assis, Milena Luana Coelho de
• Data de Publicação: 2017
• Tipo de documento: Dissertação
• Idioma: por
• Título da fonte: Biblioteca Digital de Teses e Dissertações da UFPB
• Texto Completo: https://repositorio.ufpb.br/jspui/handle/123456789/12283
• topic: Fibrose cística; Vitamina D; Polimorfismo; Inflamação; Cystic fibrosis; Vitamin D; Polymorphism; Inflammation; CNPQ::CIENCIAS DA SAUDE::NUTRICAO

Cystic fibrosis is an autosomal recessive disease caused by mutations in the CFTR gene. In Brazil, it has an approximate incidence of 1/7000, subject to regional variations. About 90% of patients have pancreatic insufficiency, resulting in malabsorption and risk of deficiency of fat-soluble vitamins, including vitamin D. Vitamin D has recently been linked to several disease states, such as hypertension, diabetes mellitus, cardiovascular disease, Cancer and chronic obstructive pulmonary disease. Vitamin D has immunomodulatory effects on inflammation. Studies have indicated the existence of several polymorphisms in the VDR gene. These polymorphisms have been studied as possible factors involved in predisposition to diseases as well as in the modulation of vitamin D activity. These new insights into the biological functions of vitamin D have led to interest in the clinical consequences of their deficiency. Based on these facts, the study aimed to identify the prevalence of 25- hydroxyvitamin D deficiency / deficiency in individuals with cystic fibrosis and to analyze its association with the inflammatory profile and FokI polymorphism of the VDR gene. This was a cross-sectional study, conducted with patients who were followed at the Pediatric Outpatient Clinic of the University Hospital Lauro Wanderley - UFPB, involving 18 patients, of both sexes. Socio-demographic information, factors associated with sun exposure and clothing were collected through a questionnaire. Weight, height and arm circumference were measured and a food consumption frequency questionnaire was applied. Blood was collected for analysis of biochemical parameters (25-hydroxyvitamin D, parathyroid hormone, serum calcium, alanine transaminase, aspartate transaminase, urea, creatinine, uric acid, fasting glycemia and blood count), inflammatory markers (C-reactive protein, α-1 glycoprotein Acid) and to verify the presence of FokI polymorphism of the vitamin D receptor VDR gene, analyzed by RFLP. Statistical analysis was performed using Student's independent t-tests (or their non-parametric correspondent, the Mann-Whitney test), Spearman's Chi-square test and Pearson's correlation, adopting a significance of p <0.05. The majority of the participants were male (55.6%). Of the total sample, 33.33% (n = 6) had vitamin D insufficiency / deficiency (19.60 ± 6.180 ng / ml) and 27.8% (n = 5) anemia and low weight for age. Regarding genotypes, 5.6% (n = 1) had FF genotype, 72.3% (n = 13) had Ff genotype and 22.2% (n = 4) presented ff genotype. There was an association between serum levels of 25- hydroxyvitamin D and hemoglobin (p = 0.008), hematocrit (p = 0.019) and leukocytes (p = 0.0114). There was no association between the values of 25-hydroxyvitamin D and the genotypes (FF, Ff and ff) (p = 0.23). In addition, there was an association between FokI polymorphism and total leukocyte count (p = 0.01). There was no association of hemoglobin with nutritional status (p = 0.61). There was also no association between vitamin D and inflammatory profile. When analyzing the frequency of consumption of source foods of vitamin D, it was observed that all the individuals consume whole milk daily. The present study found an association between the serum values of 25-hydroxyvitamin D and those of hemoglobin, hematocrit and leukocytes in the individuals analyzed. In addition, the association of the FokI polymorphism with the total leukocyte count was found.