IPEX syndrome (X-linked immune dysregulation, polyendocrinopathy, enteropathy) is one of the rare hereditary X-linked forms of neonatal diabetes mellitus associated with mutations in the FOXP3 gene. The disease is characterized by the combination of polyendocrinopathy (more frequently neonatal diabetes mellitus) with enteropathy and immune dysregulation. In the majority of the cases it has an unfavourable prognosis. The present article presents for the first time in the Russian-speaking literature the description of the genetically verified case of IPEX syndrome.
Defects in the insulin gene (INS) are one of the causes responsible for the development of permanent and sometimes transient diabetes mellitus (DM) in the children during the first year of life. Both autosomal dominant and autosomal recessive mutations in the INS gene have been described. Dominant mutations are responsible for the development of absolute insulin deficiency due to precocious apoptosis of pancreatic beta-cells and the formation of the symptomocomplex clinically identical with type 1 diabetes mellitus. Recessive mutations affect insulin biosynthesis and cause DM manifestations within a few first weeks of life of the child. The first case of DM manifestation in a 7-month old girl in Russia is described; it is attributable to a new heterozygous mutation in the insulin gene.
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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