porozendoОстеопороз и остеопатииOsteoporosis and Bone Diseases2072-26802311-0716Endocrinology Research Centre10.14341/osteo12932porozendo-12932Research ArticleКлинический случай (или краткое сообщение)Case reportСиндром Маккьюна–Олбрайта–Брайтцева: описание трех клинических случаев, особенности диагностики и тактики леченияMcCune–Albright syndrome: description of three clinical cases, features of diagnostics and treatmenthttps://orcid.org/0000-0001-7041-0732РожинскаяЛ. Я.RozhinskayaL. Ya.

Рожинская Людмила Яковлевна, д.м.н., профессор; Researcher ID: В-6618-2017; Scopus Author ID: 55121221200;eLibrary SPIN: 5691-7775

117036, Москва, ул. Дмитрия Ульянова, д. 11

Liudmila Y. Rozhinskaya, MD, PhD, Professor; Researcher ID: В-6618-2017; Scopus Author ID: 55121221200; eLibrary SPIN: 5691-7775

11 Dmitriya Ul’yanova St, 117036 Moscow

Irozhinskaya@gmail.comhttps://orcid.org/0000-0001-9418-1786СардаеваД. Г.SardaevaD. G.

Сардаева Дарья Геннадьевна, ординатор

Москва

Daria G. Sardaeva, resident

Moscow

sardaieva96@mail.ruhttps://orcid.org/0000-0002-2000-7694КалинченкоН. Ю.KalinchenkoN. Y.

Калинченко Наталья Юрьевна, к.м.н., вед.н.с.; eLibrary SPIN: 6727-9653

Москва

Natalia Y. Kalinchenko, MD, PhD; eLibrary SPIN: 6727-9653

Moscow

kalinnat@rambler.ruhttps://orcid.org/0000-0002-8017-8233ЧукановаА. М.ChukanovaA. M.

Чуканова Анна Михайловна, ординатор

Москва

Anna M. Chukanova, resident

Moscow

anna-zaletaeva@yandex.ruhttps://orcid.org/0000-0001-7965-9454ТарбаеваН. В.TarbaevaN. V.

Тарбаева Наталья Викторовна, к.м.н.; eLibrary SPIN: 5808-8065

Москва

Natalya V. Tarbaeva, MD, PhD; eLibrary SPIN: 5808-8065

Moscow

ntarbaeva@inbox.ruhttps://orcid.org/0000-0001-9065-7791БурякинаС. А.BuryakinaS. A.

Бурякина Светлана Алексеевна, к.м.н.; eLibrary SPIN: 5675-0651

Москва

Svetlana A. Buryakina; eLibrary SPIN: 5675-0651

Moscow

sburyakina@yandex.ruhttps://orcid.org/0000-0002-7775-7568ВладимироваВ. П.VladimirovaV. P.

Владимирова Виктория Павловна, к.м.н.; eLibrary SPIN: 9830-3276

Москва

Victoria P. Vladimirova, MD, PhD; eLibrary SPIN: 9830-3276

Moscow

vpv970@gmail.comhttps://orcid.org/0000-0002-6674-6441БелаяЖ. Е.BelayaZ. E.

Белая Жанна Евгеньевна, д.м.н., профессор; eLibrary SPIN: 4746-7173

Москва

Zhanna E. Belaya, MD, PhD, Professor; eLibrary SPIN: 4746-7173

Moscow

jannabelaya@mail.ruhttps://orcid.org/0000-0002-5634-7877МельниченкоГ. А.MelnichenkoG. A.

Мельниченко Галина Афанасьевна, академик РАН, д.м.н., профессор; eLibrary SPIN: 8615-0038

Москва

Galina A. Melnichenko MD, PhD, Professor; eLibrary SPIN: 8615-0038

Moscow

teofrast2000@mail.ruФГБУ «Национальный медицинский исследовательский центр эндокринологии» Минздрава РоссииРоссияEndocrinology Research CentreRussian Federation2021150220222431932Copyright © Рожинская Л.Я., Сардаева Д.Г., Калинченко Н.Ю., Чуканова А.М., Тарбаева Н.В., Бурякина С.А., Владимирова В.П., Белая Ж.Е., Мельниченко Г.А., 20222022Рожинская Л.Я., Сардаева Д.Г., Калинченко Н.Ю., Чуканова А.М., Тарбаева Н.В., Бурякина С.А., Владимирова В.П., Белая Ж.Е., Мельниченко Г.А.Rozhinskaya L.Y., Sardaeva D.G., Kalinchenko N.Y., Chukanova A.M., Tarbaeva N.V., Buryakina S.A., Vladimirova V.P., 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/12932

Синдром МакКьюна–Олбрайта–Брайцева (МОБ) – редкое заболевание, обусловленное спорадической постзиготической мутацией в гене GNAS, который кодирует альфа-субъединицу Gs сигнального белка. Постоянная активация Gs белка приводит к неконтролируемому образованию внутриклеточного циклического аденозинмонофосфата, что выражается в автономной гиперфункции органов-мишеней. Предполагаемая распространенность заболевания – 1/100 000 и 1/1 000 000. Впервые синдром МакКьюна–Олбрайта был описан в 1936 г. как триада симптомов – фиброзная дисплазия (ФД) костей, появление на коже пятен цвета «кофе с молоком» и преждевременное половое развитие. Однако в настоящее время известно, что фенотип заболевания гораздо сложнее. Это обусловлено сроком возникновения постзиготной мутации в гене GNAS, что определяет широкий спектр клинических проявлений и создает определенные трудности в диагностике данного синдрома. Например, синдром МОБ может сопровождаться развитием различных эндокринопатий, таких как акромегалия, гипертиреоз, синдром Кушинга, гипофосфатемический рахит, а также поражением других органов и систем: патологией желудочно-кишечного тракта, гепатобилиарной и сердечно-сосудистой систем. В настоящей статье представлены 3 поздно диагностированных клинических случая синдрома МОБ у пациентов с наличием «кофейных» пятен, ФД и многоузловым зобом; в двух случаях в сочетании с акромегалией. Рассмотрены возможности медикаментозной терапии акромегалии при синдроме МОБ, а также опыт применения препаратов группы бисфосфонатов для лечения ФД. Знание клинических проявлений синдрома МОБ, своевременной диагностики и возможностей медикаментозной терапии в лечении пациентов с этим заболеванием имеет важное прогностическое значение для улучшения качества жизни пациентов.

McCune Albright syndrome (MAS) is a rare disorder caused by a sporadic postzygotic mutation in the GNAS gene, which encodes the alpha subunit of the Gs signaling protein.

Permanent activation of the Gs protein leads to uncontrolled production of intracellular cAMP, and autonomic hyperfunction of target organs. Estimated prevalence of the disease – 1\100000 to 1\1000000. For the first time, MAS syndrome was described in 1936 as a triad of symptoms – fibrous dysplasia of bones (FD), spots on the skin of the color of «coffee with milk» and premature sexual development. However, it is now known, that the phenotype of the disease is much more complex. This is primarily due to the mosaic type of mutation in the GNAS gene, which determines a wide range of clinical manifestations, and presents certain difficulties in the diagnosis of this syndrome. Various endocrinopathies can be manifestations of MAS like an acromegaly, a hyperthyroidism, Cushing’s syndrome, hypophospatemic osteomalacia as well as damage to other organs and systems, namely the pathology of the gastrointestinal tract, hepato-biliary cardiovascular systems. This article presents three late diagnosed clinical cases of MAS in patients with coffee-milk spots and FD, multinodular goiter; in two cases in combination with acromegaly. We have demonstrated the possibilities of drug therapy for acromegaly in MAS, as well as the experience of using bisphosphonate for the treatment of FD.

The knowledge of clinical manifestations of the MAS, early diagnostics and possibilities of drug therapy in the management of these patients have the important prognostic value for improving the quality of patient’s life.

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