Background. Relevant in pediatrics is the use of indicators of quality of life of children to personify the treatment process, monitoring the course of the disease. In recent years, there has been increasing research on the role of vitamin D and calcium in the human body. The study was aimed to assess the quality of life of infants and to establish the possibility of medical correction of the main indicators of quality of life under the influence of the combined use of vitamin D and calcium. Materials and methods. We observed 30 clinically healthy infants who received 2.5 ml of vitamin D and calcium 3 times a day for 2 months. We have created our questionnaire on the quality of life of infants. Methods of variation statistics are used. Results. Based on the correlation analysis in infants before treatment, there was found a positive relationship between quality of life and the state of biological resistance (r = +0.51; p < 0.05); natural feeding (r = +0.56; p < 0.05); symptoms of functional gastrointestinal disorders (r = +0.58; p < 0.05); parameters of emotional status (r = +0.62; p < 0.05); signs of autonomic dysfunction syndrome (r = +0.63; p < 0.05); neuropsychological development (r = +0.65; p < 0.05); features of adaptability (r = +0.66; p < 0.05). The results of the treatment with vitamin D and calcium in the study of the correlation diagram of the relationship between quality of life and the established indicators of the development of infants demonstrated no correlation between the quality of life and symptoms of functional gastrointestinal disorders and symptoms of autonomic dysfunction. After treatment, there was a decrease in the strength of the correlation between the quality of life of infants and the parameters of emotional status (r = +0.36; p < 0.05); indicators of neuropsychological development (r = +0.35; p < 0.05), and ability to adapt (r = +0.44; p < 0.05). Conclusions. The сombined use of vitamin D and calcium in the recommended dose of 2.5 ml 3 times a day for 2 months is characterized by a high safety profile, improves the quality of life of a child, and can be recommended for infants.

В статье описаны генетические варианты транзиторного неонатального сахарного диабета, указана частота встречаемости различных генетических дефектов у больных с синдромом 6q24-TNDM. Подробно представлены механизмы генетических нарушений, приводящих к развитию данного заболевания. Показано, что развитие 6q24-TNDM ассоциировано с отцовской однородительской дисомией по хромосоме 6, несбалансированной дупликацией q24 на копии отцовской хромосомы 6 и гипометилированием ICR на копии материнской хромосомы 6q24. Дефицит экспрессии гена фактора транскрипции PDX-1 играет важную роль в регенерации поджелудочной железы и дифференцировке β-клеток, а высокая скорость пролиферации и апоптоза клеток сопровождается нестабильностью равновесия продукции инсулина и потребности в нем. Указана роль протеина ZAC1 в патогенезе заболевания.