problendoПроблемы ЭндокринологииProblems of Endocrinology0375-96602308-1430Endocrinology Research Centre10.14341/probl10357problendo-10357Research ArticleБолезни костной и жировой тканиBones & Adipose tissues diseasesНаследственные cиндромальные и несиндромальные формы первичного гиперпаратиреозаHereditary syndromal and nonsyndromal forms of primary hyperparathyroidismhttps://orcid.org/0000-0003-2669-9457ГорбачеваАнна МаксимовнаGorbachevaAnna M.

MD

ann.gorbachewa@yandex.ruhttps://orcid.org/0000-0001-6667-062XЕремкинаАнна КонстантиновнаEremkinaAnna K.

к.м.н.

MD, PhD

eremkina.anna@endocrincentr.ruhttps://orcid.org/0000-0002-9717-9742МокрышеваНаталья ГеоргиевнаMokryshevaNatalya G.

д.м.н., профессор

MD, PhD, Professor

nm70@mail.ruНациональный медицинский исследовательский центр эндокринологииРоссияEndocrinology Research CentreRussian FederationНациональный медицинский исследовательский центр эндокринологииРоссияEndocrinology research centreRussian Federation2020040820206612334Copyright © Горбачева А.М., Еремкина А.К., Мокрышева Н.Г., 20202020Горбачева А.М., Еремкина А.К., Мокрышева Н.Г.Gorbacheva A.M., Eremkina A.K., 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.probl-endojournals.ru/jour/article/view/10357

Первичный гиперпаратиреоз — патология минерального обмена, характеризующаяся избыточной продукцией паратиреоидного гормона вследствие гиперплазии или опухоли одной или нескольких околощитовидных желез и верхненормальным или повышенным уровнем кальциемии. До 90−95% случаев первичного гиперпаратиреоза являются спорадическими, в то время как наследственные формы составляют не более 5−10%. Первичный гиперпаратиреоз в составе наследственных синдромов может протекать в виде различных клинических форм (бессимптомная, манифестная), быть ассоциированным с другими эндокринными или неэндокринными заболеваниями и требовать особых подходов к лечению. Учитывая, что первичный гиперпаратиреоз — один из наиболее часто встречающихся компонентов данных синдромов, он может использоваться в качестве важного диагностического инструмента в выявлении «ядерных» семей. Данный обзор посвящен современным представлениям о клиническом течении и генетических характеристиках наследственных вариантов первичного гиперпаратиреоза и рекомендуемым на сегодняшний день алгоритмам диагностики и лечения. В обзоре рассматривается первичный гиперпаратиреоз в качестве компонента наследственных синдромов множественных эндокринных неоплазий 1, 2А и 4-го типов и синдрома гиперпаратиреоза с опухолью челюсти. Также дано описание несиндромальных наследственных форм первичного гиперпаратиреоза: семейного изолированного гиперпаратиреоза, семейной гипокальциурической гиперкальциемии и тяжелого неонатального первичного гиперпаратиреоза.

Primary hyperparathyroidism is a common disorder of mineral homeostasis, characterized by overproduction of parathyroid hormone and upper normal or elevated calcium levels due to hyperplasia or a tumor of parathyroid gland. 90−95% of cases of primary hyperparathyroidism are sporadic, while hereditary genetic forms occur in 5–10% of all cases. Primary hyperparathyroidism as the component of hereditary syndromes can present in various clinical forms (asymptomatic, symptomatic), can be associated with other endocrine or non-endocrine diseases, and require special approaches to treatment. Given that primary hyperparathyroidism is one of the most common components of these syndromes, it can be used as an important diagnostic tool in identifying affected families. This review is devoted to modern ideas about the clinical course and genetic characteristics of hereditary variants of primary hyperparathyroidism and the diagnostic and treatment algorithms recommended today. The review considers primary hyperparathyroidism as a component of hereditary syndromes including multiple endocrine neoplasias types 1, 2A and 4 and syndrome of hyperparathyroidism with a jaw tumor. Also non-syndromic hereditary forms are descripted, such as familial isolated hyperparathyroidism, familial hypocalciuric hypercalcemia, and severe neonatal primary hyperparathyroidism.

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