Моногенные формы сахарного диабета являются редкой патологией среди различных вариантов нарушений углеводного обмена. В настоящее время к ним относятся варианты, обусловленные генетическими нарушениями функции β-клеток поджелудочной железы и/или факторов, участвующих в метаболизме глюкозы. Мутации в гене ядерного фактора транс-крипции HNF1A приводят к развитию одного из наиболее распространенных типов моногенного диабета -MODY3. Мы приводим описание выявленных в России случаев сахарного диабета типа MODY3, связанных с мутациями гене HNF1A.
Ключевые слова: моногенный сахарный диабет, мутации в гене HNF1A, сульфонилмочевина, глюкозурия.Monogenic forms of diabetes mellitus make up a group of rare pathologies associated with various forms of carbohydrate metabolism disorders. This group includes genetically determined dysfunction of pancreatic β-cells and/or factors participating in glucose metabolism. Mutations in the HNFIA gene encoding for the nuclear transcription factor are responsible for the development of MODY3, one of the most widespread forms of monogenic diabetes mellitus. We present the description of the cases of MODY3 caused by mutations in the HNFIA gene reported from this country.
Несовершенный остеогенез-группа редких наследственных заболеваний соединительной ткани, в основе которых лежит дефект коллагенообразования. Главным направлением медикаментозной терапии несовершенного остеогенеза является циклическое применение бисфосфонатов (памидроновой кислоты). В статье представлен порядок организации медицинской помощи и лекарственного обеспечения детей с данным заболеванием, включая разработку нормативно-правовой базы.
Juvenile arthritis (JA) is a disease of unknown etiology that begins before the age of 16 years and lasts for at least 6 weeks. The main objective of most existing international registers of children with JA is assessment various aspects of the efficacy and safety of biologics in comparison with methotrexate. The results of the analysis of the effectiveness of registers as a tool for long-term monitoring of the disease and medical care for children with JA are not presented in the available literature. The aim of the study is to develop methodological approaches to maintaining the Register of children with JA and algorithms of actions of medical personnel on the basis of the experience of the Republican Children's Clinical Hospital (Ufa). This work is a retro- and prospective observational study. The Register included children under the age of 18 years with an established diagnosis of JA, who were admitted to the cardio-rheumatologic department of Republican Children's Clinical Hospital (Ufa). In this paper, we used the All-Russian register of children with JA, developed by «Aston Consulting» and «Norbit» (official partner of Microsoft) on the basis of the technological platform Microsoft Dynamics CRM 5.0. In total, the Register included information about 426 children with JA. The average age of children during the analysis of the register data was 10.9±4.3 years, and in the onset of the disease – 4.7±3.7 years. According to the results of the analysis, the tasks, areas of responsibility and scope of action for each subject of medical care (rheumatologist of rheumatology hospital and office, head of department, chief freelance specialist of the Ministry of Health) and the corresponding tools of the Register were determined. A clear algorithm of actions of specialists depending on the task will optimize the work with the register of patients, reduce the time required to enter and receive information and, at the same time, provide the possibility of the most complete and effective use of the Register in optimizing medical care for children with JA.
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