porozendoОстеопороз и остеопатииOsteoporosis and Bone Diseases2072-26802311-0716Endocrinology Research Centre10.14341/osteo9877porozendo-9877Research ArticleНаучный обзорReviewНаследственные формы первичного гиперпаратиреозаHereditary forms of primary hyperparathyroidismhttps://orcid.org/0000-0002-9783-3599МамедоваЕлизавета ОктаевнаMamedovaElizaveta O.

к.м.н., старший научный сотрудник отделения нейроэндокринологии и остеопатий

MD, PhD

lilybet@mail.ruhttps://orcid.org/0000-0002-9717-9742МокрышеваНаталья ГеоргиевнаMokryshevaNatalya G.

д.м.н., профессор, заведующая отделением патологии околощитовидных желез

MD, PhD

nm70@mail.ruhttps://orcid.org/0000-0001-7041-0732РожинскаяЛюдмила ЯковлевнаRozhinskayaLiudmila Ya.

д.м.н., профессор, главный гаучный сотрудник отделения нейроэндокринологии и остеопатий

MD, PhD, Professor

lrozhinskaya@gmail.com<p>ФГБУ &laquo;Национальный медицинский исследовательский центр эндокринологии&raquo; Минздрава России</p>Россия<p>Endocrinology Research Centre</p>Russian Federation<p>ФГБУ "НМИЦ эндокринологии" Минздрава России</p>Россия<p>Endocrinology Research Centre</p>Russian Federation2018261220182122329Copyright &#x00A9; Мамедова Е.О., Мокрышева Н.Г., Рожинская Л.Я., 20182018Мамедова Е.О., Мокрышева Н.Г., Рожинская Л.Я.Mamedova E.O., Mokrysheva N.G., Rozhinskaya L.Y.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.osteo-endojournals.ru/jour/article/view/9877

Первичный гиперпаратиреоз (ПГПТ) в подавляющем большинстве случаев является спорадическим заболеванием. Наследственные формы ПГПТ встречаются значительно реже, однако представляют особый интерес, поскольку позволяют глубже понять патогенез развития новообразований околощитовидных желез в целом. К наследственным формам ПГПТ относят: синдром множественных эндокринных неоплазий 1 типа (МЭН-1), 2А типа (МЭН-2А), 4 типа (МЭН-4), синдром гиперпаратиреоза с опухолью челюсти (hyperparathyroidism-jaw tumour syndrome, HPT-JT), варианты семейной гипокальциурической гиперкальциемии (familial hypocalciuric hypercalcemia, FHH) и семейный изолированный гиперпаратиреоз (familial isolated hyperparathyroidism, FIHP). Мутации в генах MEN1, RET, CDKN1B, CDC73приводят к развитию МЭН-1, МЭН-2А, МЭН-4, HPT-JT, соответственно. Варианты FHH обусловлены мутациями в генах CASR, AP2S1, GNA11. Ген(ы), ответственные за развитие большинства случаев FIHP, до сих пор неизвестны.

Выявление наследственной природы ПГПТ важно как для пациента, так и для его родственников первой линии родства, поскольку позволяет определить необходимость скрининга для выявления других компонентов синдромов, в ряде случаев определяет объем операции по поводу ПГПТ, а также риск развития заболевания у потомков.

В статье представлены данные об особенностях наследственных синдромов, в рамках которых возникает ПГПТ, а также характерные особенности ПГПТ в рамках этих синдромов.

Primary hyperparathyroidism (PHPT) is sporadic in the majority of cases. Hereditary forms of PHPT are rarer, however, they are of particular interest because they allow a deeper understanding of pathogenesis of parathyroid neoplasia. Hereditary forms of PHPT include multiple endocrine neoplasia type 1 (MEN-1), type 2A (MEN-2A), type 4 (MEN-4), hyperparathyroidism-jaw tumour syndrome (HPT-JT), variants of familial hypocalciuric hypercalcemia (FHH) and familial isolated hyperparathyroidism (FIHP). Mutations in the following genes cause the development of MEN-1, MEN-2A, MEN4, HPT-JT: MEN1, RET, CDKN1B, CDC73, respectively. Variants of FHH are caused by mutations in CASR, AP2S1, GNA11. Gene(s) responsible for the development of the majority of FIHP cases remain unknown.

Identification of hereditary forms of PHPT is important for patients and their first-degree relatives, as it allows defining the necessity of screening to reveal other components of the syndrome, in some cases determines the surgical approach to PHPT, and the risk of development of the disease in offsprings.

This article provides information on hereditary syndromes associated with PHPT and special features of PHPT in each syndrome.

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