problendoПроблемы ЭндокринологииProblems of Endocrinology0375-96602308-1430Endocrinology Research Centre10.14341/probl12537problendo-12537Research ArticleБолезни костной и жировой тканиBones & Adipose tissues diseasesСерия клинических случаев синдрома семейной гипокальциурической гиперкальциемииA series of clinical cases of familial hypocalciuric hypercalcemia syndromehttps://orcid.org/0000-0001-7963-5022КрупиноваЮ. А.KrupinovaJu. A.

Крупинова Юлия Александровна - научный сотрудник отделения патологии околощитовидных желез.117036, Москва, ул. Дм. Ульянова, д. 11.eLibrary SPIN: 6279-8247

Julia A. Krupinova – MD.11 Dm. Ulyanova street, 117036 Moscow.eLibrary SPIN: 6279-8247

j.krupinova@gmail.comhttps://orcid.org/0000-0002-2320-2532АлмасхановаА. А.AlmaskhanovaA. A.

Алмасханова Алина Анатольевна - клинический ординатор.117036, Москва, ул. Дм. Ульянова, д. 11.eLibrary SPIN: 8944-0460

Alina A. Almaskhanova - medical resident.11 Dm. Ulyanova street, 117036 Moscow.eLibrary SPIN: 8944-0460

alina-almaskhanova@yandex.ruhttps://orcid.org/0000-0001-6667-062XЕремкинаА. К.EremkinaA. K.

Еремкина Анна Константиновна - кандидат медицинских наук, и.о. заведующего отделением патологии околощитовидных желез.117036, Москва, ул. Дм. Ульянова, д. 11.eLibrary SPIN: 8848-2660

Anna K. Eremkina - MD, PhD.11 Dm. Ulyanova street, 117036 Moscow.eLibrary SPIN: 8848-2660

a.lipatenkova@gmail.comhttps://orcid.org/0000-0001-5952-5846БибикЕ. Е.BibikE. E.

Бибик Екатерина Евгеньевна - научный сотрудник отделения патологии околощитовидных желез.117036, Москва, ул. Дм. Ульянова, д. 11.eLibrary SPIN: 8522-9466

Ekaterina E. Bibik - MD, research associate of the Parathyroid Pathology Department.11 Dm. Ulyanova street, 117036 Moscow.eLibrary SPIN: 8522-9466

bibikaterina@mail.ruhttps://orcid.org/0000-0003-1107-362XВасильевЕ. В.VasilyevE. V.

Васильев Евгений Витальевич - кандидат биологических наук, старший научный сотрудник наследственных эндокринопатий.117036, Москва, ул. Дм. Ульянова, д. 11.eLibrary SPIN: 5767-1569

Evgeny V. Vasilyev - PhD in Biology, senior research associate.11 Dm. Ulyanova street, 117036 Moscow.eLibrary SPIN: 5767-1569

vas-evg@yandex.ruhttps://orcid.org/0000-0002-9717-9742МокрышеваН. Г.MokryshevaN. G.

Мокрышева Наталья Георгиевна - доктор медицинских наук, профессор.117036, Москва, ул. Дм. Ульянова, д. 11.eLibrary SPIN: 5624-3875

Natalia G. Mokrysheva - MD, PhD, Professor.11 Dm. Ulyanova street, 117036 Moscow.eLibrary SPIN: 5624-3875

parathyroid.enc@gmail.comНациональный медицинский исследовательский центр эндокринологииРоссияEndocrinology Research CentreRussian FederationНациональный медицинский исследовательский центр эндокринологииРоссияEndocrinology Research Centre, Ministry of Health of RussiaRussian FederationНациональный медицинский исследовательский центр эндокринологииРоссияEndocrinology research centreRussian FederationНациональный медицинский исследовательский центр эндокринологииРоссияEndocrinology Research centreRussian Federation2020311020206656169Copyright © Крупинова Ю.А., Алмасханова А.А., Еремкина А.К., Бибик Е.Е., Васильев Е.В., Мокрышева Н.Г., 20202020Крупинова Ю.А., Алмасханова А.А., Еремкина А.К., Бибик Е.Е., Васильев Е.В., Мокрышева Н.Г.Krupinova J.A., Almaskhanova A.A., Eremkina A.K., Bibik E.E., Vasilyev E.V., 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/12537

Семейная гипокальциурическая гиперкальциемия (familial hypocalciuric hypercalcemia, FHH) — редкое заболевание с аутосомно-доминантным типом наследования. FHH, как правило, развивается вследствие гетерозиготной инактивирующей мутации в гене кальций-чувствительного рецептора (CASR), реже — по причине гетерозиготных мутаций в GNA11 и AP2S1. Мутации в CASR изменяют порог чувствительности к кальцию, что приводит к повышению его концентрации в сыворотке для подавления синтеза паратгормона. В проксимальных канальцах почек увеличивается реабсорбция кальция, развиваются гиперкальциемия и гипокальциурия. В большинстве случаев FHH может протекать бессимптомно или сопровождаться невыраженными клиническими проявлениями. В отличие от первичного гиперпаратиреоза (ПГПТ), FHH не требует хирургического лечения, в связи с чем крайне важной является дифференциальная диагностика этих двух состояний. Учитывая генетическую природу заболевания, ближайшие родственники пробанда с FHH требуют исключения наследования болезни.Нами представлена серия клинических случаев с генетически подтвержденным диагнозом FHH. Описанные наблюдения свидетельствуют о разнообразии клинических проявлений заболевания и сложностях дифференциальной диагностики с ПГПТ.

Familial hypocalciuric hypercalcemia (FHH) - rare disease with predominantly autosomal dominant inheritance. FHH typically develops due to a heterozygous inactivating mutation in the calcium-sensitive receptor gene (CASR), less commonly due to heterozygous mutations in GNA11 and AP2S1. CASR mutations lead to an increase in the threshold for calcium sensitivity, which requires a higher concentration in serum to reduce the release of PTH. These changes are accompanied by an increase of calcium and magnesium reabsorption in the proximal tubules, which leads to hypercalcemia and hypocalciuria. Basically, FHH may be asymptomatic or accompanied by mild hypercalcemia. FHH doesn't require surgical treatment, unlike primary hyperparathyroidism (PHPT), therefore, differential diagnosis of these two conditions is extremely important. In addition, immediate relatives of a proband with FHH also require the exclusion of disease inheritance. We analyzed a series of clinical cases with a genetically confirmed diagnosis of FHH. Our clinical cases indicate a variety of clinical manifestations and the difficulties of differential diagnosis with PHPT.

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