problendoПроблемы ЭндокринологииProblems of Endocrinology0375-96602308-1430Endocrinology Research Centre10.14341/probl201359245-48problendo-4643Research ArticleСтатьиArticlesМоногенный сахарный диабет, обусловленный мутацией в гене инсулина (INS)Monogenic diabetes mellitus associated with a mutation in the insulin gene (INS)TikhonovichIu Vyuliatihonovich@mail.ruPetriaĭkinaE E-RybkinaI G-GariaevaI V-Tiul'pakovA N-201315042013592ТОМ 59, №2 (2013)4548Copyright © Tikhonovich I.V., Petriaĭkina E.E., Rybkina I.G., Gariaeva I.V., Tiul'pakov A.N., 20132013Tikhonovich I.V., Petriaĭkina E.E., Rybkina I.G., Gariaeva I.V., Tiul'pakov A.N.Tikhonovich I.V., Petriaĭkina E.E., Rybkina I.G., Gariaeva I.V., Tiul'pakov A.N.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.probl-endojournals.ru/jour/article/view/4643

Дефекты гена инсулина (INS) являются одной из причин возникновения перманентного или (в единичных случаях) транзиторного сахарного диабета (СД) у детей первого года жизни. Описаны как аутосомно-доминантные, так и аутосомно-рецессивные мутации в данном гене. Доминантные мутации в нем приводят к возникновению абсолютного дефицита инсулина в результате преждевременного апоптоза панкреатических Β-клеток и развитию симптомокомплекса, клинически идентичного СД 1-го типа. Рецессивные мутации вызывают нарушение биосинтеза инсулина и манифестацию СД в течение первых недель жизни ребенка. Приводим описание первого в России случая манифестации СД у 7-месячной пациентки в результате новой гетерозиготной миссенс-мутации в гене INS.

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.

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The authors declare that there are no conflicts of interest present.