RARE GENETIC SYNDROMES THAT DETERMINE TYPE 1 DIABETES MELLITUS ON THE EXAMPLE OF THE SAMARKAND REGION

Abstract

The polymorphism of the clinical picture of Wolfram, Rogers and Alstrom syndromes, similar to many other genetic syndromes, makes it difficult to diagnose. Diagnosis of syndromes also takes time, since clinical symptoms do not appear at the time of the manifestation of the disease, but, as a rule, only after a few years. The staging of manifestations also varies. However, molecular genetic studies contribute to the early detection of these syndromes. The study region does not have the ability to conduct research at the molecular genetic level, as a result of which the data provided in this article will be based mainly on the clinical manifestation in patients of disorders characteristic of each of the presented syndromes. Most cases come from isolated communities or other communities where consanguinity is common (explained by autosomal recessive inheritance). The studied patients applied for admission initially with a diagnosis of diabetes mellitus, only a further study of the patients, their medical history, as well as concomitant diseases made it possible to verify Wolfram, Rogers and Alstrom syndromes. The purpose of the study: to assess the prevalence and association of type 1 diabetes with rare genetically determined syndromes on the example of the Samarkand region.