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.
Introduction of the methods for molecular-genetic analysis into clinical practice has opened up new prospects for both diagnosis and pathogenetically sound therapy of neonatal diabetes mellitus. It is currently known that the overwhelming majority of the cases of diabetes mellitus developing in children during the first six month of life are associated with defects of the genes controlling formation, development, and functional activity of pancreatic beta-cells whereas type 1 diabetes mellitus of autoimmune origin accounts for less than 1% of this pathology. This paper reports the results of a molecular-genetic study of 14 patients presenting with neonatal diabetes mellitus. Nine cases are shown to have developed as a result of mutations in KCNJ11 and ABCC8 genes. ABCC8 mutations are described for the first time in Russia. Analysis of clinical forms of neonatal diabetes mellitus revealed correlation between the type of mutations, clinical features of the disease, and susceptibility of the patients to sulfonylurea drugs.
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