Background: Currently more than 50 mutations of the INS gene are known to affect the various stages of insulin biosynthesis in the beta cells of the pancreas. However only individual cases of diabetes mellitus (DM) associated with heterozygous mutations in the coding region of the INS gene were reported in Russian Federation. We report a group of patients with a clinical manifestation of DM caused by mutations in both coding and non-coding regions of the INS gene. The patients with a mutation in the intron of the INS gene are reported for the first time in Russian FederationMaterials and methods: 60 patients with an isolated course of neonatal DM (NDM), 52 patients with a manifestation of DM at the age of 7–12 months and the absence of the main autoimmune markers of type 1 DM, 650 patients with the MODY phenotype were included in the study. NGS technology was used for molecular genetic research. Author’s panel of primers (Custom DNA Panel) was used for multiplex PCR and sequencing using Ion Ampliseq™ technology. The author’s panel “Diabetes Mellitus” included 28 genes (13 candidate genes of MODY and other genes associated with DM).Results: 13 heterozygous mutations were identified in 16 probands and 9 relatives. The majority of mutations were detected in patients with PNDM (18.75%) and in patients with an onset of DM at the age of 7–12 months (9.6%). Mutations in the INS gene were detected in 2 patients (0.3%) in the group with the MODY phenotype. Mutations in the INS gene were not detected in patients with transient NDM (TNDM). Analysis of clinical data in patients with PND and onset of diabetes at the age of 7–12 months did not show significant differences in the course of the disease. The clinical characteristics of the cases of MODY10 and diabetes caused by a mutation in the intron of the INS gene are reported in details.Conclusion: The role of INS gene mutations in NDM, MODY, and DM with an onset at the age of 7–12 months was analyzed in a large group of patients. The clinical characteristics of DM due to a mutation in the intron of the INS gene are reported for the first time in the Russian Federation.
Витамин D и его метаболиты играют ключевую роль в поддержании гомеостаза кальция в организме. Нарушение инактивации активного метаболита витамина D 3-1,25-дигидроксивитамина D 3-в результате мутаций в гене CYP24A1 приводит к развитию клинически значимой гиперкальциемии, гиперкальциурии, вторичному гипопаратиреозу, формированию нефрокальциноза и мочекаменной болезни (МКБ). Это состояние получило название «идиопатическая инфантильная гиперкальциемия». Тяжесть заболевания варьирует от бессимптомной гиперкальциемии и гиперкальциурии до тяжелых случаев с летальным исходом в раннем возрасте. Ведение пациентов включает назначение диеты с низким содержанием кальция в пище, регидратации, диуретиков, ограничение инсоляции, а также исключение препаратов, содержащих витамин D. В тяжелых случаях решается вопрос о назначении глюкокортикоидов, кетоконазола, бифосфонатов, проведении гемодиализа. Ранняя диагностика заболевания позволяет разработать индивидуальный план ведения таких пациентов, предотвратить формирование почечной патологии, проводить медико-генетическое консультирование семьи. В статье приведено описание первой в РФ группы пациентов (2 взрослых, 3 детей) с генетически подтвержденным дефектом 24-гидроксилазы; изложены основные клинико-лабораторные характеристики, принципы диагностики и основы ведения пациентов с данной патологией.
For the first time in the domestic literature, the article presents a clinical observation of multisystem inflammatory syndrome in children (MIS-C) associated with COVID-19 in the 6-year-old patient with manifestation of type 1 diabetes mellitus (T1DM) in the form of diabetic ketoacidosis. Anamnestic, clinical and laboratory data are presented on the basis of which two life-threatening diseases was diagnosed, as well as tactics of therapy, which made it possible to achieve a positive result. This clinical observation is compared with observations of foreign colleagues. Possible pathogenetic mechanisms of MIS-C and T1DM comorbidity are discussed.
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