8 research outputs found

    Liver damage in children and adolescents with newly diagnosed celiac disease: clinical and anamnestic, serological and morphological patterns

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    Hypertransaminasemia is a common extra-intestinal manifestation of celiac disease. Aim. To analyze the frequency of hypertransaminasemia, clinical and anamnestic, serological and morphological picture in children in the active period of celiac disease. Materials and methods. The study included 272 children with celiac disease aged from 8 months to 17 years. The patients were divided into two groups: the first children with hypertransaminasemia, the second without hypertransaminasemia. Results. Hypertransaminasemia was detected in 55.9% of children with celiac disease. The age of manifestation of the disease in the first group was 1.0 [0.5; 2.0] years, in the second group 1.9 [0.5; 4.0] years (p=0.0004). Children of the first group were diagnosed at 2.5 [1.7; 4.9] years, the second group at 4.9 [3.0; 10.8] years (p0.001). The duration of the latency period in children of the first and second groups was 1.4 [0.6; 3.1] years and 2.4 [0.9; 4.3] years, respectively (p=0.002). The average values of IgA anti-tTG antibodies in children of the analyzed groups did not differ, and the indicators of IgG anti-tTG antibodies in the first group were 1.6 (p=0.04) times higher. The level of EMA in children with hypertransaminasemia was 2 times higher than in children without hypertransaminasemia. Conclusion. Hypertransaminasemia is more often detected in young children with early manifestation of the disease, increases with the deepening of atrophy in the mucous membrane of the small intestine. Higher titers of celiac-specific antibodies were detected in children with hypertransaminasemia

    A clinical case of neonatal diabetes caused by INS gene mutation

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    Neonatal diabetes mellitus (NDM) is a severe endocrine pathology diagnosed in children during the first months of life. It comprises rare (1:300 000–1:400 000 newborns) metabolic disorders with postnatal pancreatic β-cell dysfunction, manifested by hyperglycaemia and hypoinsulinaemia. It is currently established that molecular genetic diagnosis of neonatal diabetes forms can influence treatment and prognosis. Interestingly, most identified mutations in the insulin gene are not inherited, but are sporadic. There is evidence that, in addition to heterozygous INS mutations, NDM can be caused by homozygous or compound-heterozygous mutations. The present article presents the clinical case of a girl with NDM associated with an INS gene mutation. INS gene mutations cause permanent diabetes and require children to undergo genetic examination, especially patients with type 1 diabetes in the absence of antibodies. Currently, there are no data that allow to determine a phenotypic and genotypic ‘portrait’ of NDM forms or to explain the factors determining their occurrence. Further studies of clinical cases of neonatal diabetes are therefore required to determine the characteristics of NDM subtypes with subsequent disease prognosis

    Vitamin D Status Among Children With Juvenile Idiopathic Arthritis: A Multicenter Prospective, Non-randomized, Comparative Study

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    BackgroundJuvenile idiopathic arthritis (JIA) is a chronic autoimmune disease characterized by destructive and inflammatory damage to the joints. The aim in this study was to compare vitamin D levels between children and adolescents, 1–18 years of age, with juvenile idiopathic arthritis (JIA) and a health control group of peers. We considered effects of endogenous, exogenous, and genetic factors on measured differences in vitamin D levels among children with JIA.MethodsOur findings are based on a study sample of 150 patients with various variants of JIA and 277 healthy children. The blood level of vitamin D was assessed by calcidiol level. The following factors were included in our analysis: age and sex; level of insolation in three regions of country (center, south, north); assessment of dietary intake of vitamin D; effect of prophylactic doses of cholecalciferol; a relationship between the TaqI, FokI, and BsmI polymorphisms of the VDR gene and serum 25(OH)D concentration.ResultsWe identified a high frequency of low vitamin D among children with JIA, prevalence of 66%, with the medial level of vitamin D being within the range of “insufficient” vitamin D. We also show that the dietary intake of vitamin D by children with JIA is well below expected norms, and that prophylactic doses of vitamin D supplementation (cholecalciferol) at a dose of 500–1,000 IU/day and 1,500–2,000 IU/day do not meet the vitamin D needs of children with JIA. Of importance, we show that vitamin D levels among children with JIA are not affected by clinical therapies to manage the disease nor by the present of VDR genetic variants.ConclusionProphylactic administration of cholecalciferol and season of year play a determining role in the development of vitamin D deficiency and insufficiency

    Role of vitamin D in pre-school children’s health

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    Vitamin D has pleiotropic effects, including maintaining calcium and phosphate homeostasis, and affecting the immune and endocrine systems. The article summarizes data on the expected biological effects of vitamin D on children’s health. The results of randomized clinical trials evaluating the effect of vitamin D supplementation on the incidence of acute respiratory tract infections are reviewed in detail. It has been shown that daily intake of vitamin D at a dose of 10 to 25 mcg/day (400–1000 IU/day) compared with placebo leads to a significant decrease in the proportion of children and adolescents who have had at least one episode of acute respiratory infection. The criteria for the provision of calciferol and the gradation of the status of vitamin D deficiency and deficiency in different countries are discussed. It has been shown that in the interpretation of the 25 (OH) D results there is a consensus on two points: calcidiol levels below 12 ng/ml (30 nmol/L) are considered clearly insufficient, and levels above 30 ng/ml (75 nmol/L) are considered sufficient in all regions. The incidence of hypovitaminosis D has been reported in children aged 3 to 7 years, where the overall combined assessment, regardless of age group, ethnic composition and breadth of the studied populations, showed that 13% of European children had a serum calcidiol concentration of less than 12 ng/ml (<30 nmol/L), and about 40% had a level of less than 30 ng/ml (<75 nmol/L). The data on the physiological need and the recommended daily dose of vitamin D for preschool children have been analyzed. In each country, the recommended intake of vitamin D is set (from 400 to 4000 IU), depending on the target concentration of serum calcidiol, the level of insolation, and nutritional characteristics. The necessity of conducting clinical studies in the age group from 3 to 7 years to determine an adequate, effective and safe preventive dose of vitamin D for preschool children in the Russian Federation is emphasized
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