endosergЭндокринная хирургияEndocrine Surgery2306-35132310-3965Типография «Печатных дел Мастер»10.14341/serg12815endoserg-12815Research ArticleКлинический случайClinical CaseНеклассическая манифестация синдрома множественных эндокринных неоплазий 1 типаNon-classical manifestation of multiple endocrine neoplasia type 1https://orcid.org/0000-0001-5952-5846БибикЕ. Е.BibikE. E.

Бибик Екатерина Евгеньевна, научный сотрудник, к.м.н.  117036, Москва, ул. Дм. Ульянова, д. 11 

 

 

Ekaterina E. Bibik, MD, PhD

11 Dm. Ulyanova street, Moscow, 117036 

bibikaterina@mail.ruhttps://orcid.org/0000-0002-0306-6588АбойшеваЕ. А.AboishavaL. A.

Абойшева Елизавета Андреевна, врач-эндокринолог 

Москва

Lizaveta A. Aboishava, MD

Moscow

lizaveta.aboisheva@gmail.comhttps://orcid.org/0000-0001-8265-5809МатюшкинаА. С.MatyushkinaA. S.

Матюшкина Анна Сергеевна, врач-эндокринолог 

Москва

Anna S. Matyushkina

Moscow

matiuschkinaa@yandex.ruhttps://orcid.org/0000-0001-6667-062XЕремкинаА. К.EremkinaA. K.

Еремкина Анна Константиновна, к.м.н. 

Москва

Anna K. Eremkina, MD, PhD 

Moscow

a.lipatenkova@gmail.comhttps://orcid.org/0000-0001-5652-2607ДегтяревМ. В.DegtyarevM. V.

Дегтярев Михаил Владимирович, заведующий отделением радионуклидной диагностики

Москва

Mikhail V. Degtyarev, MD 

Moscow

 

germed@mail.ruhttps://orcid.org/0000-0001-6388-1544ПлатоноваН. М.PlatonovaN. M.

Платонова Надежда Михайловна, д.м.н

Москва

Nadezhda M. Platonova, MD, PhD

Moscow

doc-platonova@inbox.ruhttps://orcid.org/0000-0002-8520-8702ТрошинаЕ. А.TroshinaE. A.

Трошина Екатерина Анатольевна, д.м.нМосква 

Ekaterina A. Troshina, MD, PhD

Moscow

troshina@inbox.ruhttps://orcid.org/0000-0002-9717-9742МокрышеваН. Г.MokryshevaN. G.

Мокрышева Наталья Георгиевна, д.м.н., профессор

Москва

Natalia G. Mokrysheva, MD, PhD, Professor

Moscow

mokrisheva.natalia@endocrincentr.ruФГБУ «НМИЦ эндокринологии» Минздрава РоссииРоссияEndocrinology Research CentreRussian Federation2023130920231736170Copyright © Бибик Е.Е., Абойшева Е.А., Матюшкина А.С., Еремкина А.К., Дегтярев М.В., Платонова Н.М., Трошина Е.А., Мокрышева Н.Г., 20242024Бибик Е.Е., Абойшева Е.А., Матюшкина А.С., Еремкина А.К., Дегтярев М.В., Платонова Н.М., Трошина Е.А., Мокрышева Н.Г.Bibik E.E., Aboishava L.A., Matyushkina A.S., Eremkina A.K., Degtyarev M.V., Platonova N.M., Troshina E.A., Mokrysheva N.G.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.surg-endojournals.ru/jour/article/view/12815

Синдром множественных эндокринных неоплазий 1 типа (МЭН-1) — орфанное заболевание, обусловленное метахронным развитием образований эндокринных и неэндокринных органов. Первым наиболее частым проявлением заболевания является первичный гиперпаратиреоз, однако также возможна манифестация с других компонентов. Ввиду широкой вариабельности клинического течения настороженность в отношении данной патологии должна проявляться врачами разных специальностей.

На примере представленного клинического случая неклассической манифестации синдрома МЭН-1 освещаются трудности установления диагноза, тактика комплексного обследования и лечения основных компонентов синдрома. Своевременное проведение лабораторно-инструментальной и генетической диагностики играет важную роль в профилактике осложнений заболевания, повышении качества жизни и улучшении прогноза пациентов.

Multiple endocrine neoplasia type 1 (MEN-1) is the orphan disease caused by the metachronous tumors of endocrine and non–endocrine organs. The first most frequent feature of the syndrome is primary hyperparathyroidism, however, manifestation from other components is also possible. Different medical specialists should know about this pathology because its clinical course is often varied.

This clinical case of non-classical manifestation of MEN-1 demonstrates the difficulties of diagnostics, comprehensive examination and treatment of the main components of the syndrome. Timely laboratory, instrumental and genetic diagnostics plays an important role in the prevention of complications, improving the quality of life and prognosis of patients.

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