A clinical case of neonatal diabetes caused by INS gene mutation

• Main Authors: Rosa A. Atanesyan, Tatyana A. Uglova, Tatyana M. Vdovina, Leonid Ya. Klimov, Marina U. Kostanova, Victoriya A. Kuryaninova, Marina V. Stoyan, Lilit S. Alaverdyan, Svetlana V. Dolbnya
• Format: Article
• Language: English
• Published: Endocrinology Research Centre 2019-06-01
• Series: Сахарный диабет
• Subjects: neonatal diabetes; permanent form; pump insulin therapy
• Online Access: https://dia-endojournals.ru/dia/article/viewFile/9876/pdf

Neonatal diabetes mellitus (NDM) is a severe endocrine pathology diagnosed in children during the first months of life. It comprises rare (1:300 0001:400 000 newborns) metabolic disorders with postnatal pancreatic -cell dysfunction, manifested by hyperglycaemia and hypoinsulinaemia. It is currently established that molecular genetic diagnosis of neonatal diabetes forms can influence treatment and prognosis. Interestingly, most identified mutations in the insulin gene are not inherited, but are sporadic. There is evidence that, in addition to heterozygous INS mutations, NDM can be caused by homozygous or compound-heterozygous mutations. The present article presents the clinical case of a girl with NDM associated with an INS gene mutation. INS gene mutations cause permanent diabetes and require children to undergo genetic examination, especially patients with type 1 diabetes in the absence of antibodies. Currently, there are no data that allow to determine a phenotypic and genotypic portrait of NDM forms or to explain the factors determining their occurrence. Further studies of clinical cases of neonatal diabetes are therefore required to determine the characteristics of NDM subtypes with subsequent disease prognosis.