diaendoСахарный диабетDiabetes mellitus2072-03512072-0378Endocrinology research centre10.14341/DM12721diaendo-12721Research ArticleКлинический случайCase reportСочетание несовершенного остеогенеза и сахарного диабета 1 типаCombination of osteogenesis imperfecta and type 1 diabetes mellitushttps://orcid.org/0000-0003-1673-698XМармалюкД. А.MarmalyukD. A.

Мармалюк Дарья Александровна – студент; eLibrary SPIN: 6113-6567.

119991, Москва, ул. Трубецкая, д. 8, стр. 2

Darya A. Marmalyuk - student; eLibrary SPIN: 6113-6567.

8-2 Trubetskaya street, 119991 Moscow

daralmar@mail.ruhttps://orcid.org/0000-0003-2144-8595РуноваГ. Е.RunovaG. E.

Рунова Гюзель Евгеньевна - кандидат медицинских наук; eLibrary SPIN: 3639-6932/

Москва

Gyuzel E. Runova - MD, PhD; eLibrary SPIN: 3639-6932.

Moscow

guzelvolkova@yandex.ruhttps://orcid.org/0000-0002-3802-3035МошенинаС. Э.MosheninaS. E.

Мошенина Софья Эдуардовна, врач-эндокринолог; eLibrary SPIN: 3101-4800.

Москва

Sofia E. Moshenina - MD; eLibrary SPIN: 3101-4800.

Moscow

sonaga@yandex.ruhttps://orcid.org/0000-0003-2742-7795ШапкаМ. П.ShapkaM. P.

Шапка Маргарита Петровна - врач-рентгенолог; eLibrary SPIN: 8871-7115

Москва

Margarita P. Shapka - MD; eLibrary SPIN: 8871-7115.

Moscow

extranea@mail.ruhttps://orcid.org/0000-0002-3026-6315ФадеевВ. В.FadeyevV. V.

Фадеев Валентин Викторович - доктор медицинских наук, профессор, член-корр. РАН; eLibrary SPIN: 6825-8417

Москва

Valentin V. Fadeyev, MD, Professor; eLibrary SPIN: 6825-8417.

Moscow

walfad@mail.ruПервый Московский государственный медицинский университет имени И.М. Сеченова (Сеченовский университет)РоссияI.M. Sechenov First Moscow State Medical University (Sechenov University)Russian Federation202105012022245470476Copyright © Мармалюк Д.А., Рунова Г.Е., Мошенина С.Э., Шапка М.П., Фадеев В.В., 20222022Мармалюк Д.А., Рунова Г.Е., Мошенина С.Э., Шапка М.П., Фадеев В.В.Marmalyuk D.A., Runova G.E., Moshenina S.E., Shapka M.P., Fadeyev V.V.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.dia-endojournals.ru/jour/article/view/12721

Несовершенный остеогенез (НО) — наследственное заболевание соединительной ткани, сопровождающееся повышенной хрупкостью костей. На основании фенотипических проявлений выделяют 5 типов НО. НО 1-го типа характеризуется снижением содержания структурно нормального коллагена 1-го типа и имеет благоприятный прогноз. Кроме переломов, течение НО может сопровождаться низкорослостью, деформациями костей и гипермобильностью крупных суставов. Хотя с возрастом вероятность переломов уменьшается, такие пациенты нуждаются в динамическом наблюдении с оценкой значений минеральной плотности кости (МПК) и, при необходимости, коррекции терапии для улучшения качества жизни. Сахарный диабет 1 типа (СД1) ассоциирован со снижением МПК. Основными причинами этого являются дефицит инсулина и гипергликемия, что также повышает риск развития переломов. Достижение и стабильное поддержание целевых уровней гликемии часто сопряжено c рядом трудностей, однако необходимо для исключения гипергликемии как фактора, еще больше ухудшающего качество кости. В данной работе представлено описание клинического случая чрезвычайно редкого сочетания НО 1-го типа и СД1, двух заболеваний с ярко выраженным отрицательным влиянием на костную ткань. Комбинация указанных патологий требует особой тактики ведения таких пациентов для снижения риска развития новых переломов.

Osteogenesis imperfecta (OI) is a hereditary connective tissue disorder accompanied by increased bone fragility. Five types of OI are distinguished on the basis of phenotypic manifestations. OI type 1 is characterized by a reduced amount of normal type 1 collagen and is the mildest form. In addition to the fractures, course of disease can be accompanied by short stature, skeletal deformity and joint hypermobility. Although fracture risk decreases with age, such patients needs regular follow-up with an assessment of bone mineral density (BMD) and, if necessary, correction of therapy to improve the quality of life. Type 1 diabetes mellitus (T1DM) is associated with a decreased BMD, which is mostly attributed to insulin deficiency and hyperglycemia, which also increase the risk of fractures. Achieving and stable maintenance of glycemic targets is often challenging, but it is necessary to exclude hyperglycemia as a factor that further worsens the quality of bone. This paper describes a clinical case of an extremely rare combination of type 1 OI and T1DM, two diseases with a pronounced negative effect on bone tissue. The combination of these pathologies requires special management tactics for such patients to reduce the risk of developing new fractures.

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