problendoПроблемы ЭндокринологииProblems of Endocrinology0375-96602308-1430Endocrinology Research Centre10.14341/probl13125problendo-13125Research ArticleКлиническая эндокринологияClinical endocrinologyСиндром гипокальциурической гиперкальциемии. Редкость ли? Два клинических случая в амбулаторной практикеSyndrome of hypocalсiuric hypercalcemia. Is it rare? Two clinical cases in an outpatient clinichttps://orcid.org/0000-0001-7005-431XСвиридоноваМ. А.SviridonovaM. A.

Свиридонова Марина Александровна – кандидат медицинских наук.

125124, Москва, 1-я улица Ямского Поля, д. 15, с. 4.

SPIN-код: 3717-2510

Marina A. Sviridonova - MD, PhDю

125124, 15/4 1th street Yamskogo Polya, Moscow.

SPIN-код: 3717-2510

marsendoc@gmail.comОбщество с ограниченной ответственностью «Огни Олимпа»РоссияLLC “Ogni Olimpa”Russian Federation2022170620226852431Copyright © Свиридонова М.А., 20222022Свиридонова М.А.Sviridonova M.A.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/13125

Синдром гипокальциурической гиперкальциемии (Familial hypocalciuric hypercalcemia, FHH) является наследственным заболеванием, в основе которого лежит дисфункция кальций-чувствительного рецептора или ассоциированных с ним белковых комплексов. По последним данным, распространенность этого состояния может быть сопоставимой с частотой первичного гиперпаратиреоза. Клинические проявления FHH, как правило, отсутствуют, но в ряде случаев могут отмечаться классические симптомы гиперкальциемии. Своевременная дифференциальная диагностика FHH позволяет избежать дорогостоящего инструментального обследования, а также необоснованного хирургического лечения. Представленные в данной публикации клинические случаи демонстрируют неоправданные сложности в этом вопросе и необходимость повышения информированности врачей о синдроме семейной гипокальциурической гиперкальциемии.

Hypocalciuric hypercalcemia syndrome (familial hypocalciuric hypercalcemia, FHH) is an inherited condition based on dysfunction of the calcium receptor or its associated partner proteins. Recent evidence suggests that the prevalence of this condition may be comparable to that of primary hyperparathyroidism. Clinical manifestations of FHH are usually absent; however the classic symptoms of hypercalcemia may be present in some cases. Timely differential diagnosis of FHH avoids unnecessary and expensive instrumental examination, as well as ineffective treatment. The clinical cases presented in this publication demonstrate the unjustified difficulties in this issue and the necessity to raise the awareness of physicians about the familial hypocalciuric hypercalcemia.

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