porozendoОстеопороз и остеопатииOsteoporosis and Bone Diseases2072-26802311-0716Endocrinology Research Centre10.14341/osteo12103porozendo-12103Research ArticleКлинический случай (или краткое сообщение)Case reportПервое в России описание клинического случая несовершенного остеогенеза v типа с тяжелыми деформациями скелета, обусловленного мутацией с.119С>T в гене IFITM5First description of a type v osteogenesis imperfecta clinical case with severe skeletal deformities caused by a mutation p.119C> T in IFITM5 gene in Russiahttps://orcid.org/0000-0003-1413-1549ГребенниковаТатьяна АлексеевнаGrebennikovaTatiana A.

к.м.н.

MD, PhD

Grebennikova@hotmail.comhttps://orcid.org/0000-0001-8148-8180ГавриловаАлина ОлеговнаGavrilovaAlina O.

клинический ординатор

Resident

a.o.gavrilova@list.ruhttps://orcid.org/0000-0001-8500-4841ТюльпаковАнатолий НиколаевичTiulpakovAnatoly N.

д.м.н.

MD, phD

anatolytiulpakov@gmail.comhttps://orcid.org/0000-0001-7965-9454ТарбаеваНаталья ВикторовнаTarbaevaNatalya V.

к.м.н.

PhD

ntarbaeva@inbox.ruhttps://orcid.org/0000-0002-6674-6441БелаяЖанна ЕвгеньевнаBelayaZhanna E.

д.м.н.

MD, PhD

jannabelaya@gmail.comhttps://orcid.org/0000-0002-5634-7877МельниченкоГалина АфанасьевнаMelnichenkoGalina A.

д.м.н., проф., акад. РАН

MD, PhD, Professor

teofrast2000@mail.ruФГБУ «НМИЦ эндокринологии», Минздрава РФРоссияEndocrinology Research CentreRussian Federation2019070220202223237Copyright © Гребенникова Т.А., Гаврилова А.О., Тюльпаков А.Н., Тарбаева Н.В., Белая Ж.Е., Мельниченко Г.А., 20192019Гребенникова Т.А., Гаврилова А.О., Тюльпаков А.Н., Тарбаева Н.В., Белая Ж.Е., Мельниченко Г.А.Grebennikova T.A., Gavrilova A.O., Tiulpakov A.N., Tarbaeva N.V., Belaya Z.E., Melnichenko G.A.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.osteo-endojournals.ru/jour/article/view/12103

Несовершенный остеогенез (НО) – это генетически обусловленная патология опорно-двигательного аппарата, основными клиническими проявлениями которой являются склонность к повторяющимся патологическим переломам и прогрессирующая деформация скелета. На основании клинических признаков выделяют 5 типов НО. В большинстве случаев заболевание обусловлено мутациями в генах COL1A1 и COL1A2, приводящими к дефекту синтеза коллагена 1 типа, который является главным компонентом матрикса кости. До 5% пациентов с НО имеют мутацию в гене IFITM5, что приводит к развитию V типа НО. Всего описано около 150 клинических случаев V типа НО, при этом, как правило, выявляется мутация c.-14C>T в гене IFITM5, и только у 5 пациентов описана мутация с.119С>T:p.S40L.

Патогенез V типа НО до конца не изучен, однако предполагается, что мутации в гене IFITM5 вызывают нарушение остеобластогенеза, приводящее к нарушению костной микроархитектоники и, как следствие, к повышенной хрупкости костей. Вероятно, существует фенотип-генотипическая корреляция признаков при разных мутациях гена IFITM5, однако оценить взаимосвязь ввиду выраженной вариабельности признаков и низкой распространенности заболевания в настоящее время трудно.

В статье приводится первое в России описание клинического случая взрослой пациентки с НО V типа, обусловленного редкой мутацией с.119С>T:p.S40L в гене IFITM5.

Osteogenesis imperfecta (OI) is a hereditary connective tissue disorder. Main clinical manifestations include recurring pathological fractures and progressive skeletal deformation. Five types of OI are distinguished based on clinical symptoms. In most cases, the disease is caused by mutations in the COL1A1 and COL1A2 genes, leading to a defect of type 1 collagen synthesis, which is the main component of the bone matrix. Up to 5% of patients with OI have a mutation in IFITM5 gene, which leads to the development of OI type V. Approximately 150 cases of the OI type V are described in the literature, and mutation c.-14C> T in IFITM5 gene is found in most of the cases. Only 5 patients have a c.119C> T: p.S40L.mutation.

Pathogenesis of OI type V is not fully understood. It is assumed that mutations in the IFITM5 gene cause impaired osteoblastogenesis, decreased bone mineral density and multiple low-traumatic fractures. There is probably a phenotype-genotypic correlation in cases with different mutations of the IFITM5. However, it is currently difficult to assess the relationship in view of the variability of the characters and the low prevalence of the OI type V.

We present the first description in Russia of the clinical case of an adult patient with OI type V due to a rare mutation p.119C> T: p.S40L in the IFITM5 gene.

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