Sposób żywienia i jego związek z gęstością mineralną kości u dziewcząt i chłopców z mukowiscydozą

Background: Nutrition influence on cystic fibrosis (CF) patients survival is well documented and dietary therapy is one of basic elements of their treatment. Prolonged survival of CF patients might yet emerge comorbidities, which include bone mineral disease. The aim: The assessment of the dietary pattern and its relationship between bone density in boys and girls with cystic fibrosis. Material and methods: 89 patients aged 10-18 years from 3 Polish CF Centres were included into the study. To obtain a knowledge about quality of diet, a 3-day food record was assessed and percent of recommended for CF patients intake of energy, protein, carbohydrates, fat, vitamin D3, calcium, phosphorus was counted. Bone mineral density (BMD) in lumbar spine (L1-L4) was measured and expressed as a Z-score. To assess nutritional status, anthropometric measurements was evaluated (body weight, height and BMI). Descriptive methods, Mann-Whitney test, T-Student test, Spearman correlation and one-way ANOVA were used for statistical analyses. Results: The patients with cystic fibrosis did not meet specific for CF nutritional guidelines. A deficiency in recommended intake was observed in energy (88%), protein (82%), calcium (78%) and vitamin D3 (71%). The intake of phosphorus was higher than recommended (142%). A nutritional status was significantly reduced, as compared with the reference group (p<0.001). Boys characterized significantly lower body weight (p=0.019) and height (p=0.036) than girls as well as worse caloric (p=0.023) and carbohydrates intake (p=0.005). However, girls had reduced vitamin D3 content in their diet (p<0.001). The bone mineral density in the whole group was reduced and Z-score amounted to -0.95±1.17. Tendency to decreasing of BMD with age was observed. BMI showed important correlation with bone mineral density both in girls (p<0.001) and in boys (p=0.020). Conclusion: CF patients do not follow specific for them dietary recommendations and essential differences were observed between girls and boys. Nutritional status (BMI) showed correlation with bone mineral density in CF patients. Therefore intensive nutritional therapy according to recommendations is needed.Wprowadzenie: Wpływ żywienia na długość życia chorych z mukowiscydozą (ang. Cystic Fibrosis − CF) jest dobrze udokumentowany, a postępowanie dietetyczne jest jednym z podstawowych elementów leczenia pacjentów z CF. Systematyczne wydłużanie się wieku przeżycia chorych może powodować ujawienie się niedoborów żywieniowych prowadzących do chorób towarzyszących, jakimi są m.in. zaburzenia w gospodarce mineralnej kości. Cel: Celem pracy była ocena sposobu żywienia dziewcząt i chłopców z mukowiscydozą i jego związku z gęstością mineralną kości. Materiał imetody: Do badania włączono 89 pacjentów wwieku 10-18 lat. Wcelu ustalenia jakości diety, oceniono sposób żywienia za pomocą zapisu 3-dniowych jadłospisów, obliczając procent realizacji zapotrzebowania zgodnie z rekomendacjami opracowanymi dla pacjentów z mukowiscydozą. Dotyczyło to pokrycia zapotrzebowania kalorycznego, białka, tłuszczu, węglowodanów, witaminy D3, wapnia i fosforu. Oceniono gęstość mineralną kości (Bone Mineral Density − BMD) w odcinku lędźwiowym (L1-L4). Wynik wyrażono, jako wartość standaryzowaną Z-score. W celu określenia stanu odżywienia dokonano pomiarów antropometrycznych (masa i wysokość ciała oraz BMI). Wykonano następujące obliczenia statystyczne: analizy opisowe, test Manna-Whitneya, test t-Studenta, korelację Spearmana, oraz jednoczynnikową analizę wariancji ANOVA. Wyniki: Badani pacjenci nie spełniali opracowanych dla chorych na mukowiscydozę zaleceń żywieniowych. W diecie zaobserwowano niedobory energii (88% normy), białka (82%), wapnia (78%) oraz witaminy D3 (71%). Wykazano nadmierne spożycie fosforu (142%). Stan odżywienia (parametry antropometryczne) badanej grupy był obniżony i w sposób statystycznie istotny różnił się od grupy referencyjnej (p<0,001). Chłopcy charakteryzowali się znacznie niższą masą ciała (p=0,019) iwysokością (p=0,036) niż dziewczęta, a także niższą kalorycznością diety (p=0,023) oraz zawartością węglowodanów (p=0,005). Dietę dziewcząt cechowała mniejsza zawartość witaminy D3 w diecie (p<0,001) w porównaniu do chłopców. Średnia wartość gęstości mineralnej kości w całej grupie była obniżona i wynosiła -0,95±1,17. Zaobserwowano tendencję do obniżania się BMD wraz z wiekiem. Stan odżywienia wyrażony jako BMI wykazał statystycznie istotną korelację z gęstością mineralną kości, zarówno u dziewcząt (p<0,001), jak i u chłopców (p=0,020). Wnioski: Pacjenci z CF nie przestrzegali opracowanych dla nich zaleceń dietetycznych. Zaobserwowano istotne różnice między dziewczętami i chłopcami. Stan odżywienia (BMI), wykazał korelację z gęstością mineralną kości (BMD), co wymaga intensywnej terapii żywieniowej, zgodnie z opracowanymi rekomendacjami

Cystic fibrosis is a risk factor for celiac disease

Background: The coexistence of cystic fibrosis (CF) and celiac disease (CD) has been reported. To our knowledge there is no study directly comparing the incidence of CD in CF patients to that in the general population at the same time. There is no published data on genetic predisposition to CD in CF patients either. Therefore, in the present study we aimed to assess the genetic predisposition to CD and its incidence in CF patients comparing it to data from the general population. Patients and methods: Two hundred eighty-two CF patients were enrolled in the study. In 230 CF patients the genetic predisposition to CD (the presence of HLA-DQ2/ DQ8) was assessed. In all CF patients, serological screening for CD was conducted. In patients with positive antiendomysial antibodies (EMA) gastroduenoscopy was offered. Intestinal histology was classified according to modified Marsh criteria. The results of serological CD screening in 3235 Polish schoolchildren and HLA-DQ typing in 200 healthy subjects (HS) were used for comparison. Results: Positive EMA was found in 2.84% of the studied CF patients. The incidence of proven CD was 2.13%. The incidence of CD as well as positive serological screening were significantly more frequent in the CF group than in the general population. The frequency of CD-related HLA-DQ alleles in CF and HS did not differ. Conclusions: Genetic predisposition to celiac disease in cystic fibrosis patients is similar to that of the general population. However, our results suggest that cystic fibrosis is a risk factor for celiac disease development

Transcriptional and Ultrastructural Analyses Suggest Novel Insights into Epithelial Barrier Impairment in Celiac Disease

Disruption of epithelial junctional complex (EJC), especially tight junctions (TJ), resulting in increased intestinal permeability, is supposed to activate the enhanced immune response to gluten and to induce the development of celiac disease (CD). This study is aimed to present the role of EJC in CD pathogenesis. To analyze differentially expressed genes the next-generation mRNA sequencing data from CD326+ epithelial cells isolated from non-celiac and celiac patients were involved. Ultrastructural studies with morphometry of EJC were done in potential CD, newly recognized active CD, and non-celiac controls. The transcriptional analysis suggested disturbances of epithelium and the most significant gene ontology enriched terms in epithelial cells from CD patients related to the plasma membrane, extracellular exome, extracellular region, and extracellular space. Ultrastructural analyses showed significantly tighter TJ, anomalies in desmosomes, dilatations of intercellular space, and shorter microvilli in potential and active CD compared to controls. Enterocytes of fetal-like type and significantly wider adherence junctions were observed only in active CD. In conclusion, the results do not support the hypothesis that an increased passage of gluten peptides by unsealing TJ precedes CD development. However, increased intestinal permeability due to abnormality of epithelium might play a role in CD onset

Atherosclerotic Risk Factors in Children with Celiac Disease

Introduction and Objectives. Celiac disease (CD) is a complex autoimmune disorder occurring in genetically susceptible individuals. There is limited data on the impact of gluten-free diet (GFD) on the risk of developing cardiovascular diseases. Hereby, we present our study regarding the impact of treatment with GFD on the biochemical risk factors of atherosclerosis. Material and Methods. 277 patients with CD from 7 Polish clinics were enrolled in the study (210 children treated for at least 5 years and 67 children included in the study on the day of CD diagnosis and observed for 1 year on a GFD). We obtained selected clinical data, and we assessed lipid profile, apolipoproteins (A1, B, and E), lipoprotein (a), homocysteine, as well as antioxidants (folic and uric acid), and high-sensitivity CRP (hsCRP) for all patients. The compliance to GFD was verified using anti-transglutaminase antibodies and deamidated gliadin peptide antibodies. As a reference group, the data of 95 healthy children recruited for another project was used, for which we had the results of selected parameters. Results. We found significantly lower concentrations of total cholesterol, lipoprotein LDL-C, apolipoproteins A1 and B, as well as hCRP in all children with CD. We showed decreased level (5 years. Moreover, we showed significant decrease of folic acid level already after 1 year of a GFD (12 vs. 5.6 ng/mL; p<0.001). We also found significant negative correlation of z-score body mass index (BMI) with HDL and APOA1 level (r=−0.33; p=0.015 and r=−0.28; p=0.038, respectively) and modest positive correlation of z-score BMI with atherogenic factor of total cholesterol-HDL ratio and LDL-HDL ratio (r=0.40; p=0.002 and r=0.36; p=0.006, respectively). Analysis of physical activity showed an increase in the insulin levels with inactivity (r=0.36; p=0.0025). We also found positive correlation of the sleep duration with the adiponectin level (r=0.41; p=0.011). Conclusions. In children with CD treated with a GFD, decreased level of folic acid together with increased BMI, sedentary behavior, and an improper lipid profile may predispose them to atherosclerosis in the long run. This data suggests the need of further studies to determine the need for metabolic cardiovascular risk screening in children with CD

Combination Testing Using a Single MSH5 Variant alongside HLA Haplotypes Improves the Sensitivity of Predicting Coeliac Disease Risk in the Polish Population.

Assessment of non-HLA variants alongside standard HLA testing was previously shown to improve the identification of potential coeliac disease (CD) patients. We intended to identify new genetic variants associated with CD in the Polish population that would improve CD risk prediction when used alongside HLA haplotype analysis. DNA samples of 336 CD and 264 unrelated healthy controls were used to create DNA pools for a genome wide association study (GWAS). GWAS findings were validated with individual HLA tag single nucleotide polymorphism (SNP) typing of 473 patients and 714 healthy controls. Association analysis using four HLA-tagging SNPs showed that, as was found in other populations, positive predicting genotypes (HLA-DQ2.5/DQ2.5, HLA-DQ2.5/DQ2.2, and HLA-DQ2.5/DQ8) were found at higher frequencies in CD patients than in healthy control individuals in the Polish population. Both CD-associated SNPs discovered by GWAS were found in the CD susceptibility region, confirming the previously-determined association of the major histocompatibility (MHC) region with CD pathogenesis. The two most significant SNPs from the GWAS were rs9272346 (HLA-dependent; localized within 1 Kb of DQA1) and rs3130484 (HLA-independent; mapped to MSH5). Specificity of CD prediction using the four HLA-tagging SNPs achieved 92.9%, but sensitivity was only 45.5%. However, when a testing combination of the HLA-tagging SNPs and the MSH5 SNP was used, specificity decreased to 80%, and sensitivity increased to 74%. This study confirmed that improvement of CD risk prediction sensitivity could be achieved by including non-HLA SNPs alongside HLA SNPs in genetic testing

GWAS-selected SNPs and associations with coeliac disease.

<p>GWAS-selected SNPs and associations with coeliac disease.</p

Frequencies of positive predicting alleles.

<p>Frequencies of positive predicting alleles.</p