The current prevalence of pediatric Celiac Disease (CD) is estimated to be around 1% in the general population, worldwide. However, according to the geographic area, a great variability of CD prevalence has been described. Whereas a number of studies are available from Europe, North and South America, Australia, South-West Asia, and North Africa, the knowledge and awareness of CD in large parts of the remaining world areas is definitively poor. In several countries of Central and East Asia, the consumption of wheat is consistent and/or has significantly increased in recent decades, and CD is supposed to be underdiagnosed in children. In this mini-review, we aimed to summarize the current knowledge about the prevalence of pediatric CD in Central and East Asia, paying attention to the HLA-DQ immunogenetic background as well. Indeed, CD is likely not to be as uncommon as previously or currently thought in countries like Russia, Kazakhstan, and China, in addition to India, where pediatric CD has been clearly showed to be quite prevalent. Therefore, there is an urgent need for population-based studies on the prevalence of CD in those countries, especially in children, in order to increase the awareness of this disease and to improve the diagnostic strategy in these areas.

Background. Mycoplasma pneumoniae (M. pneumoniae) is implicated in several immune-mediated extrapulmonary manifestations, including reactive arthritis. Recently, increased total serum IgE were reported in children developing M. pneumoniae-related extrapulmonary diseases (MpEPDs). Here, we aimed at analyzing these aspects in children affected with rheumatic disorders and, in detail, Juvenile Idiopathic Arthritis (JIA). Methods. M. pneumoniae serology (IgG and IgM) and total serum IgE were concomitantly analyzed in 139 pediatric patients diagnosed with: JIA (Group 1, ), or any rheumatic disease other than JIA (Group 2, ), or non-inflammatory endocrinological disorders (Group 3, ). Results. Overall, 19.4% M. pneumoniae seroprevalence was observed in this hospitalized pediatric population, without signicant differences among the three groups. No significant differences in total serum IgE levels were noted among these groups; however, a second analysis excluding children with very high (and clearly abnormal) IgE levels suggested that JIA patients and, in detail, those with oligopolyarticular forms may have higher serum IgE concentrations. This relative difference among groups in serum IgE level seems to be more pronounced in M. pneumoniae seropositive children. Conclusions. M. pneumoniae infection should be actively sought in children developing immune-mediated diseases, including patients affected with JIA and, especially, in oligopolyarticular forms. There is some evidence that total serum IgE levels may tend to be increased in patients with oligopolyarticular JIA subtype and especially in those resulting as M. pneumoniae seropositive. However, further and focused research is needed to confirm these preliminary results and to clarify the relation between M. pneumoniae infection, atopic status, and immune-mediated arthritis.

Basophils are the least abundant circulating leukocytes, and their immunological role has not yet been completely elucidated. There is evidence supporting their immunomodulatory role in several pathological settings; recently, studies in both experimental models and humans suggested that basophil homeostasis may be altered in systemic lupus erythematosus (SLE). Here, we first assessed circulating basophils in children affected with pediatric SLE (pSLE). In this cross-sectional study, circulating basophils were enumerated by fluorescence-based flow cytometry analysis in children affected with pSLE, in addition to children suffering from juvenile idiopathic arthritis (JIA) or non-inflammatory/non-rheumatic conditions. This study included 52 pediatric patients distributed in these three groups. We observed a statistically significant reduction of peripherally circulating basophils in children with pSLE compared to the other two groups of patients. This preliminary study is consistent with the available studies in adult patients with SLE showing a reduced number of circulating basophils. However, further research is needed to draw final conclusions on basophils’ homeostasis in pSLE, in addition to their correlation with the disease activity and concomitant therapies.

This study investigates the genetic landscape and phenotypic spectrum of osteogenesis imperfecta (OI) in the Kazakhstani pediatric population, focusing on 40 children diagnosed and treated at the “University Medical Center” Corporate Fund from July 2021 to June 2023. Genetic analysis was conducted using whole-genome sequencing for 22 participants at the “National Laboratory Astana” (Nazarbayev University, Astana, Kazakhstan) and whole-exome sequencing for 18 participants in private laboratories. Clinically significant genetic variants were found in 35 cases (87.5%). Mutations in the COL1A1 and COL1A2 genes were detected in 24 cases (68.6%), among them 5 variants were described for the first time. Among the rare cases of OI, variants in the IFITM5 (n = 2), SERPINF1 (n = 7), and SERPINH1 (n = 1) genes were identified. At the same time, seven unrelated cases had identical variants in the SERPINF1 gene (c.907C > T, 6 of which in the homozygous and 1 in the compound heterozygous state) and two cases in the IFITM1 gene (c.-14C > T). Novel disease-causing variants were identified in 17% of cases, and a higher proportion of collagen defects were seen. The relatively high proportion of autosomal recessive inherited OI determined in the current study should be investigated at the population level in Kazakhstan and in the countries of Central Asia. Moreover, this study described the genotype–phenotype correlation, which complements and expands the existing knowledge about the OI.

The epidemiology of type 1 diabetes mellitus (T1DM) in children aged 0-17 in Kazakhstan was explored using aggregated large-scale healthcare data from the unified national electronic health system (UNEHS) in 2014-2021. Incidence, period prevalence, and mortality rates per 100,000 population at risk were calculated. Cox proportional hazards regression modelling and Kaplan-Meier methodology were used. The follow-up period was from the initial date of T1DM until death or the end of the follow-up (31 December 2021). Among the 11,088 patients, the incidence rate of T1DM decreased from 28.1 to 24.5 per 100,000 population, whereas the period prevalence rate increased from 48.8 to 179.1, and the mortality rate rose from 0.18 to 0.67. Diagnosis at age 0-1 years (hazards ratio [HR] 4.42), presence of nephropathy (HR 8.94) or neoplasms (HR 1.64) were associated with a higher risk of death, while the presence of retinopathy (HR 0.31) was associated with a lower risk of death.

While many studies compared multiple daily injections (MDI) and insulin pump therapy on various clinical outcomes, the results remain inconclusive. This multicenter retrospective cohort study included 175 patients and aimed to evaluate the effects of different insulin therapy methods on various clinical outcomes, including hemoglobin A1c (HbA1c), total daily insulin dosage, body mass index, glomerular filtration rate, in pediatric patients with type 1 diabetes. In a linear mixed-effects regression analysis, a statistically significant interaction between time and treatment type on HbA1c was found. It suggested significantly higher reduction of HbA1c values between 12-month visit and baseline in the group receiving MDIs compared to insulin pump therapy. Patients using MDIs observed higher reduction of HbA1c levels and lower total daily insulin dose relative to insulin pump therapy group. Other changes of clinical indicators were the same for group of patients. Various studies report controversial results on long term effects of these treatments on HbA1c values necessitating large population-based cohort studies in this field.