problendoПроблемы ЭндокринологииProblems of Endocrinology0375-96602308-1430Endocrinology Research Centre10.14341/probl9399problendo-9399Research ArticleОбзорыReviewsОсобенности первичного гиперпаратиреоза у пациентов молодого возрастаCharacteristics of primary hyperparathyroidism in young patientshttps://orcid.org/0000-0002-9783-3599МамедоваЕлизавета ОктаевнаMamedovaElizaveta O.

Научный сотрудник отделения нейроэндокринологии и остеопатий

MD

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

доктор медицинских наук, руководитель Центра патологии околощитовидных желез

MD, PhD

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

доктор медицинских наук, главный научный сотрудник отделения нейроэндокринологии и остеопатий

MD, PhD, professor

rozhinskaya@rambler.ru<p>ФГБУ &laquo;Национальный медицинский исследовательский центр эндокринологии&raquo; Минздрава России</p>Россия<p>Endocrinology Research Centre</p>Russian Federation201817072018643163169Copyright &#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.probl-endojournals.ru/jour/article/view/9399

Первичный гиперпаратиреоз (ПГПТ) хорошо изучен у пациентов старшей возрастной группы. Однако исследования особенностей ПГПТ у детей, подростков и лиц молодого возраста немногочисленны. При сравнении клинических и лабораторных характеристик ПГПТ у молодых пациентов и пациентов старшего возраста выявляются некоторые различия. Кроме того, ранний дебют ПГПТ может свидетельствовать о наличии наследственных синдромов, ассоциированных с ПГПТ. К ним относятся: синдром множественных эндокринных неоплазий 1-го типа, 2А типа, 4-го типа, синдром гиперпаратиреоза с опухолью челюсти (hyperparathyroidism—jaw tumour syndrome), семейная гипокальциурическая гиперкальциемия (familial hypocalciuric hypercalcemia) и семейный изолированный гиперпаратиреоз (familial isolated hyperparathyroidism). Однако необходимость рутинного генетического исследования для исключения этих синдромов пациентам с дебютом ПГПТ в молодом возрасте неочевидна. На сегодняшний день существуют лишь единичные зарубежные исследования, посвященные необходимости генетического обследования всех пациентов молодого возраста с ПГПТ, причем результаты этих исследований неоднозначны. В обзоре суммированы данные зарубежных и отечественных исследований, посвященных особенностям ПГПТ у пациентов с дебютом заболевания в молодом возрасте.

Primary hyperparathyroidism (PHPT) is well studied in elderly patients. Studies of PHPT characteristics in children, adolescents, and young adults are rare. In some of these studies, investigators have compared clinical and laboratory characteristics of PHPT between young and elderly patients and revealed several differences. An early onset of PHPT may indicate familial syndromes associated with PHPT. These include: multiple endocrine neoplasia syndrome type 1, type 2A, and type 4, hyperparathyroidism-jaw tumor syndrome, familial hypocalciuric hypercalcemia, and familial isolated hyperparathyroidism. However, the need for routine genetic tests to exclude these syndromes in all patients with PHPT manifested at a young age is not obvious. To date, there are a few foreign studies on the need for genetic testing in all young patients with PHPT, but their results are controversial. Our review summarizes the data of foreign and Russian studies on characteristics of PHPT in patients with disease onset at a young age.

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