porozendoОстеопороз и остеопатииOsteoporosis and Bone Diseases2072-26802311-0716Endocrinology Research Centre10.14341/osteo13142porozendo-13142Research ArticleНАУЧНЫЕ ОБЗОРЫREVIEWSРоль кальций-чувствительного рецептора в регуляции синтеза паратиреоидного гормона в норме и при патологииThe role of the calcium-sensing receptor in the regulation of parathyroid hormone secretion in physiology and in calcitropic diseaseshttps://orcid.org/0000-0003-1673-698XМармалюкД. А.MarmalyukD. A.

Мармалюк Дарья Александровна - врач-ординатор, кафедра эндокринологии №1, ИКМ.

119991, Москва, ул. Трубецкая, д. 8, стр. 2

Darya A. Marmalyuk - resident.

8–2 Trubetskaya street, 119991 Moscow

daralmar@mail.ruhttps://orcid.org/0000-0003-2144-8595РуноваГ. Е.RunovaG. E.

Рунова Гюзель Евгеньевна - к.м.н., доцент кафедры эндокринологии №1, ИКМ.

Москва

Gyuzel E. Runova - MD, PhD.

Moscow

guzelvolkova@yandex.ruhttps://orcid.org/0000-0002-3026-6315ФадеевВ. В.FadeyevV. V.

Фадеев Валентин Викторович - д.м.н., профессор, член-корр. РАН, заведующий кафедрой эндокринологии №1, ИКМ.

Москва

Valentin V. Fadeyev - MD, ScD, Professor.

Moscow

walfad@mail.ruПервый Московский государственный медицинский университет имени И.М. Сеченова Министерства здравоохранения Российской Федерации (Сеченовский Университет)РоссияI.M. Sechenov First Moscow State Medical University (Sechenov University)Russian Federation2023170320242632532Copyright © Мармалюк Д.А., Рунова Г.Е., Фадеев В.В., 20242024Мармалюк Д.А., Рунова Г.Е., Фадеев В.В.Marmalyuk D.A., Runova G.E., Fadeyev V.V.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.osteo-endojournals.ru/jour/article/view/13142

Паратиреоидный гормон (ПТГ) играет ключевую роль в поддержании фосфорно-кальциевого гомеостаза. Секреция ПТГ регулируется посредством кальций-чувствительного рецептора (КЧР), преимущественно располагающегося на поверхности клеток околощитовидных желез и почечных канальцев. Активация КЧР происходит при повышении уровня кальция в организме и направлена на ингибирование синтеза ПТГ и усиление экскреции кальция с мочой, т.е. на защиту организма от неблагоприятного воздействия гиперкальциемии. Снижение экспрессии и/или изменение работы КЧР приводит к нарушению регуляции синтеза ПТГ и лежит в основе развития таких заболеваний, как первичный и вторичный гиперпаратиреоз, а также в ряде наследственных заболеваний, связанных с нарушением кальциевого гомеостаза. В данной работе рассмотрены функции КЧР в норме, а также обсуждаются потенциальные механизмы нарушения чувствительности КЧР при различных патологиях.

Parathyroid hormone (PTH) plays a key role in the regulation of calcium-phosphate metabolism. The secretion of PTH is regulated by calcium-sensing receptor (CaSR), which primarily expressed in the parathyroid glands and the renal tubules of the kidney. Increase of calcium concentration in extracellular matrix of cells is causing activation of the CaSR. Activated CaSR inhibits secretion of PTH and increases urinary calcium excretion. All CaSR effects leads to prevent development of hypercalcemia complications. Downregulation of the CASR expression and/or altered CaSR functioning leads to dysregulation of PTH synthesis. It may be the underlying cause of the development of primary and secondary hyperparathyroidism, as well as a number of hereditary diseases associated with loss- and gain-of-function mutations of the CaSR. In this paper we discusses the function of the CaSR in physiology and also the potential mechanisms that can impaired CaSR-induced signaling in various calcitropic diseases.

кальций-чувствительный рецепторпаратиреоидный гормонпервичный гиперпаратиреозвторичный гиперпаратиреозфактор роста фибробластов 23Клотоcalcium-sensing receptorparathyroid hormoneprimary hyperparathyroidismsecondary hyperparathyroidismfibroblast growth factor 23KlothoReferencesSundararaman SS, van der Vorst EPC. Calcium-Sensing Receptor (CaSR), Its Impact on Inflammation and the Consequences on Cardiovascular Health. Int J Mol Sci. 2021;22(5):2478. doi: https://doi.org/10.3390/ijms22052478Sundararaman SS, van der Vorst EPC. Calcium-Sensing Receptor (CaSR), Its Impact on Inflammation and the Consequences on Cardiovascular Health. Int J Mol Sci. 2021;22(5):2478. doi: https://doi.org/10.3390/ijms22052478Brown EM, MacLeod RJ. Extracellular calcium sensing and extracellular calcium signaling. Physiol Rev. 2001;81(1):239-297. doi: https://doi.org/10.1152/physrev.2001.81.1.239Brown EM, MacLeod RJ. Extracellular calcium sensing and extracellular calcium signaling. Physiol Rev. 2001;81(1):239-297. doi: https://doi.org/10.1152/physrev.2001.81.1.239Мирная С.С., Пигарова Е.А., Беляева А.В. и др. Роль кальцийчувствительного рецептора в поддержании системы кальциевого гомеостаза // Остеопороз и остеопатии. — 2010. — Т. 13. — №3. — С. 32-36. doi: https://doi.org/10.14341/osteo2010332-36Mirnaya SS, Pigarova EA, Belyaeva AV et al. The role of the calcium-sensing receptor in maintaining the calcium homeostasis system. Osteoporosis and Bone Diseases. 2010;13(3):32-36. (In Russ.). doi: https://doi.org/10.14341/osteo2010332-36Barahona MJ, Maina RM, Lysyy T, et al. Activation of the Calcium Sensing Receptor Decreases Secretagogue-Induced Fluid Secretion in the Rat Small Intestine. Front Physiol. 2019;10:439. doi: https://doi.org/10.3389/fphys.2019.00439Barahona MJ, Maina RM, Lysyy T, et al. Activation of the Calcium Sensing Receptor Decreases Secretagogue-Induced Fluid Secretion in the Rat Small Intestine. Front Physiol. 2019;10:439. doi: https://doi.org/10.3389/fphys.2019.00439Ruat M, Traiffort E. Roles of the calcium sensing receptor in the central nervous system. Best Pract Res Clin Endocrinol Metab. 2013;27(3):429-442. doi: https://doi.org/10.1016/j.beem.2013.03.001Ruat M, Traiffort E. Roles of the calcium sensing receptor in the central nervous system. Best Pract Res Clin Endocrinol Metab. 2013;27(3):429-442. doi: https://doi.org/10.1016/j.beem.2013.03.001Schepelmann M, Yarova PL, Lopez-Fernandez I, et al. The vascular Ca2+-sensing receptor regulates blood vessel tone and blood pressure. Am J Physiol Cell Physiol. 2016;310(3):C193-C204. doi: https://doi.org/10.1152/ajpcell.00248.2015Schepelmann M, Yarova PL, Lopez-Fernandez I, et al. The vascular Ca2+-sensing receptor regulates blood vessel tone and blood pressure. Am J Physiol Cell Physiol. 2016;310(3):C193-C204. doi: https://doi.org/10.1152/ajpcell.00248.2015Minisola S, Arnold A, Belaya Z, et al. Epidemiology, Pathophysiology, and Genetics of Primary Hyperparathyroidism. J Bone Miner Res. 2022;37(11):2315-2329. doi: https://doi.org/10.1002/jbmr.4665Minisola S, Arnold A, Belaya Z, et al. Epidemiology, Pathophysiology, and Genetics of Primary Hyperparathyroidism. J Bone Miner Res. 2022;37(11):2315-2329. doi: https://doi.org/10.1002/jbmr.4665Conigrave AD, Ward DT. Calcium-sensing receptor (CaSR): pharmacological properties and signaling pathways. Best Pract Res Clin Endocrinol Metab. 2013;27(3):315-331. doi: https://doi.org/10.1016/j.beem.2013.05.010Conigrave AD, Ward DT. Calcium-sensing receptor (CaSR): pharmacological properties and signaling pathways. Best Pract Res Clin Endocrinol Metab. 2013;27(3):315-331. doi: https://doi.org/10.1016/j.beem.2013.05.010Hofer AM, Brown EM. Extracellular calcium sensing and signalling. Nat Rev Mol Cell Biol. 2003;4(7):530-538. doi: https://doi.org/10.1038/nrm1154Hofer AM, Brown EM. Extracellular calcium sensing and signalling. Nat Rev Mol Cell Biol. 2003;4(7):530-538. doi: https://doi.org/10.1038/nrm1154Sato T, Courbebaisse M, Ide N, et al. Parathyroid hormone controls paracellular Ca2+ transport in the thick ascending limb by regulating the tight-junction protein Claudin14. Proc Natl Acad Sci USA. 2017;114(16):E3344-E3353. doi: https://doi.org/10.1073/pnas.1616733114Sato T, Courbebaisse M, Ide N, et al. Parathyroid hormone controls paracellular Ca2+ transport in the thick ascending limb by regulating the tight-junction protein Claudin14. Proc Natl Acad Sci USA. 2017;114(16):E3344-E3353. doi: https://doi.org/10.1073/pnas.1616733114Toka HR, Al-Romaih K, Koshy JM, et al. Deficiency of the calcium-sensing receptor in the kidney causes parathyroid hormone-independent hypocalciuria. J Am Soc Nephrol. 2012;23(11):1879-1890. doi: https://doi.org/10.1681/ASN.2012030323Toka HR, Al-Romaih K, Koshy JM, et al. Deficiency of the calcium-sensing receptor in the kidney causes parathyroid hormone-independent hypocalciuria. J Am Soc Nephrol. 2012;23(11):1879-1890. doi: https://doi.org/10.1681/ASN.2012030323Ba J, Brown D, Friedman PA. Calcium-sensing receptor regulation of PTH-inhibitable proximal tubule phosphate transport. Am J Physiol Renal Physiol. 2003;285(6):F1233-F1243. doi: https://doi.org/10.1152/ajprenal.00249.2003Ba J, Brown D, Friedman PA. Calcium-sensing receptor regulation of PTH-inhibitable proximal tubule phosphate transport. Am J Physiol Renal Physiol. 2003;285(6):F1233-F1243. doi: https://doi.org/10.1152/ajprenal.00249.2003Chang W, Tu C, Chen TH, et al. The extracellular calcium-sensing receptor (CaSR) is a critical modulator of skeletal development. Sci Signal. 2008;1(35). doi: https://doi.org/10.1126/scisignal.1159945Chang W, Tu C, Chen TH, et al. The extracellular calcium-sensing receptor (CaSR) is a critical modulator of skeletal development. Sci Signal. 2008;1(35). doi: https://doi.org/10.1126/scisignal.1159945Hannan FM, Kallay E, Chang W, et al. The calcium-sensing receptor in physiology and in calcitropic and noncalcitropic diseases. Nat Rev Endocrinol. 2018;15(1):33-51. doi: https://doi.org/10.1038/s41574-018-0115-0Hannan FM, Kallay E, Chang W, et al. The calcium-sensing receptor in physiology and in calcitropic and noncalcitropic diseases. Nat Rev Endocrinol. 2018;15(1):33-51. doi: https://doi.org/10.1038/s41574-018-0115-0Pearce SH, Brown EM. Calcium-sensing receptor mutations: insights into a structurally and functionally novel receptor. J Clin Endocrinol Metab. 1996;81(4):1309-1311. doi: https://doi.org/10.1210/jcem.81.4.8636322Pearce SH, Brown EM. Calcium-sensing receptor mutations: insights into a structurally and functionally novel receptor. J Clin Endocrinol Metab. 1996;81(4):1309-1311. doi: https://doi.org/10.1210/jcem.81.4.8636322Singh P, Bhadada SK, Dahiya D, et al. Reduced Calcium Sensing Receptor (CaSR) Expression Is Epigenetically Deregulated in Parathyroid Adenomas. J Clin Endocrinol Metab. 2020;105(9):3015-3024. doi: https://doi.org/10.1210/clinem/dgaa419Singh P, Bhadada SK, Dahiya D, et al. Reduced Calcium Sensing Receptor (CaSR) Expression Is Epigenetically Deregulated in Parathyroid Adenomas. J Clin Endocrinol Metab. 2020;105(9):3015-3024. doi: https://doi.org/10.1210/clinem/dgaa419Wang XM, Wu YW, Li ZJ, et al. Polymorphisms of CASR gene increase the risk of primary hyperparathyroidism. J Endocrinol Invest. 2016;39(6):617-625. doi: https://doi.org/10.1007/s40618-015-0405-5Wang XM, Wu YW, Li ZJ, et al. Polymorphisms of CASR gene increase the risk of primary hyperparathyroidism. J Endocrinol Invest. 2016;39(6):617-625. doi: https://doi.org/10.1007/s40618-015-0405-5Brown AJ, Zhong M, Finch J, et al. Rat calcium-sensing receptor is regulated by vitamin D but not by calcium. Am J Physiol. 1996;270(3 Pt 2):F454-F460. doi: https://doi.org/10.1152/ajprenal.1996.270.3.F454Brown AJ, Zhong M, Finch J, et al. Rat calcium-sensing receptor is regulated by vitamin D but not by calcium. Am J Physiol. 1996;270(3 Pt 2):F454-F460. doi: https://doi.org/10.1152/ajprenal.1996.270.3.F454Varshney S, Bhadada SK, Saikia UN, et al. Simultaneous expression analysis of vitamin D receptor, calcium-sensing receptor, cyclin D1, and PTH in symptomatic primary hyperparathyroidism in Asian Indians. Eur J Endocrinol. 2013;169(1):109-116. doi: https://doi.org/10.1530/EJE-13-0085Varshney S, Bhadada SK, Saikia UN, et al. Simultaneous expression analysis of vitamin D receptor, calcium-sensing receptor, cyclin D1, and PTH in symptomatic primary hyperparathyroidism in Asian Indians. Eur J Endocrinol. 2013;169(1):109-116. doi: https://doi.org/10.1530/EJE-13-0085Ильичева Е.А., Шурыгина И.А., Дремина Н.Н. и др. Роль кальцийчувствительного и витамин D рецепторов в патогенезе множественного поражения околощитовидных желез при спорадическом первичном гиперпаратиреозе // Проблемы Эндокринологии. — Т. 2023-Т. 69. — №3. — С. 24-34 doi: https://doi.org/10.14341/probl13207Ilyicheva EA, Shurygina IA, Dremina NN, et al. The role of calcium sensitive and vitamin D receptors in the pathogenesis of sporadic multiple parathyroid gland disease. Problems of Endocrinology. 2023;69(3):24-34. (In Russ.). doi: https://doi.org/10.14341/probl13207Koh J, Zhang R, Roman S, et al. Ex Vivo Intact Tissue Analysis Reveals Alternative Calcium-sensing Behaviors in Parathyroid Adenomas. J Clin Endocrinol Metab. 2021;106(11):3168-3183. doi: https://doi.org/10.1210/clinem/dgab524Koh J, Zhang R, Roman S, et al. Ex Vivo Intact Tissue Analysis Reveals Alternative Calcium-sensing Behaviors in Parathyroid Adenomas. J Clin Endocrinol Metab. 2021;106(11):3168-3183. doi: https://doi.org/10.1210/clinem/dgab524Koh J, Dar M, Untch BR, et al. Regulator of G protein signaling 5 is highly expressed in parathyroid tumors and inhibits signaling by the calcium-sensing receptor. Mol Endocrinol. 2011;25(5):867-876. doi: https://doi.org/10.1210/me.2010-0277Koh J, Dar M, Untch BR, et al. Regulator of G protein signaling 5 is highly expressed in parathyroid tumors and inhibits signaling by the calcium-sensing receptor. Mol Endocrinol. 2011;25(5):867-876. doi: https://doi.org/10.1210/me.2010-0277Balenga N, Koh J, Azimzadeh P, et al. Parathyroid-Targeted Overexpression of Regulator of G-Protein Signaling 5 (RGS5) Causes Hyperparathyroidism in Transgenic Mice. J Bone Miner Res. 2019;34(5):955-963. doi: https://doi.org/10.1002/jbmr.3674Balenga N, Koh J, Azimzadeh P, et al. Parathyroid-Targeted Overexpression of Regulator of G-Protein Signaling 5 (RGS5) Causes Hyperparathyroidism in Transgenic Mice. J Bone Miner Res. 2019;34(5):955-963. doi: https://doi.org/10.1002/jbmr.3674Balenga N, Azimzadeh P, Hogue JA, et al. Orphan adhesion GPCR GPR64/ADGRG2 is overexpressed in parathyroid tumors and attenuates calcium-sensing receptor-mediated signaling. J Bone Miner Res. 2017;32(3):654-666. doi: https://doi.org/10.1002/jbmr.3023Balenga N, Azimzadeh P, Hogue JA, et al. Orphan adhesion GPCR GPR64/ADGRG2 is overexpressed in parathyroid tumors and attenuates calcium-sensing receptor-mediated signaling. J Bone Miner Res. 2017;32(3):654-666. doi: https://doi.org/10.1002/jbmr.3023Olauson H, Lindberg K, Amin R, et al. Parathyroidspecific deletion of Klotho unravels a novel calcineurin-dependent FGF23 signaling pathway that regulates PTH secretion. PLoS Genet. 2013;9(12):e1003975. doi: https://doi.org/10.1371/journal.pgen.1003975Olauson H, Lindberg K, Amin R, et al. Parathyroidspecific deletion of Klotho unravels a novel calcineurin-dependent FGF23 signaling pathway that regulates PTH secretion. PLoS Genet. 2013;9(12):e1003975. doi: https://doi.org/10.1371/journal.pgen.1003975Xiang Z, Wang M, Miao C, Jin D, Wang H. Mechanism of calcitriol regulating parathyroid cells in secondary hyperparathyroidism. Front Pharmacol. 2022;13:1020858. doi: https://doi.org/10.3389/fphar.2022.1020858Xiang Z, Wang M, Miao C, Jin D, Wang H. Mechanism of calcitriol regulating parathyroid cells in secondary hyperparathyroidism. Front Pharmacol. 2022;13:1020858. doi: https://doi.org/10.3389/fphar.2022.1020858Campion KL, McCormick WD, Warwicker J, et al. Pathophysiologic changes in extracellular pH modulate parathyroid calcium-sensing receptor activity and scretion via a histidine-independent mechanism. J Am Soc Nephrol. 2015;26(9):2163-2171. doi: https://doi.org/10.1681/ASN.2014070653Campion KL, McCormick WD, Warwicker J, et al. Pathophysiologic changes in extracellular pH modulate parathyroid calcium-sensing receptor activity and scretion via a histidine-independent mechanism. J Am Soc Nephrol. 2015;26(9):2163-2171. doi: https://doi.org/10.1681/ASN.2014070653Urakawa I, Yamazaki Y, Shimada T, et al. Klotho converts canonical FGF receptor into a specific receptor for FGF23. Nature. 2006;444(7120):770-774. doi: https://doi.org/10.1038/nature05315Urakawa I, Yamazaki Y, Shimada T, et al. Klotho converts canonical FGF receptor into a specific receptor for FGF23. Nature. 2006;444(7120):770-774. doi: https://doi.org/10.1038/nature05315Krajisnik T, Bjorklund P, Marsell R, et al. Fibroblast growth factor-23 regulates parathyroid hormone and 1alpha-hydroxylase expression in cultured bovine parathyroid cells. J Endocrinol. 2007;195(1):125-131. doi: https://doi.org/10.1677/JOE-07-0267Krajisnik T, Bjorklund P, Marsell R, et al. Fibroblast growth factor-23 regulates parathyroid hormone and 1alpha-hydroxylase expression in cultured bovine parathyroid cells. J Endocrinol. 2007;195(1):125-131. doi: https://doi.org/10.1677/JOE-07-0267Ильин А.В., Арбузова М.И. Фактор роста фибробластов 23 и белок Klotho в патогенезе вторичного гиперпаратиреоза // Остеопороз и остеопатии. — 2013. — Т. 16. — №3. — С. 20-27. doi: https://doi.org/10.14341/osteo2013320-27Ilin AV, Arbuzova MI. Fibroblast growth factor 23 and Klotho protein in the pathogenesis of secondary hyperparathyroidism. Osteoporosis and Bone Diseases. 2013;16(3):20-27. (In Russ.). doi: https://doi.org/10.14341/osteo2013320-27Arnold A, Brown MF, Urena P, et al. Monoclonality of parathyroid tumors in chronic renal failure and in primary parathyroid hyperplasia. J Clin Invest. 1995;95(5):2047-2053. doi: https://doi.org/10.1172/JCI117890Arnold A, Brown MF, Urena P, et al. Monoclonality of parathyroid tumors in chronic renal failure and in primary parathyroid hyperplasia. J Clin Invest. 1995;95(5):2047-2053. doi: https://doi.org/10.1172/JCI117890Centeno PP, Herberger A, Mun HC, et al. Phosphate acts directly on the calcium-sensing receptor to stimulate parathyroid hormone secretion. Nat Commun. 2019;10(1):4693. doi:10.1038/s41467-019-12399-9Centeno PP, Herberger A, Mun HC, et al. Phosphate acts directly on the calcium-sensing receptor to stimulate parathyroid hormone secretion. Nat Commun. 2019;10(1):4693. doi:10.1038/s41467-019-12399-9Baradaran A. Relationship between Klotho and parathormone. J Parathyr Dis. 2023;11:e11230. doi: https://doi.org/10.34172/jpd.2023.11230Baradaran A. Relationship between Klotho and parathormone. J Parathyr Dis. 2023;11:e11230. doi: https://doi.org/10.34172/jpd.2023.11230Fan Y, Liu W, Bi R, et al. Interrelated role of Klotho and calcium-sensing receptor in parathyroid hormone synthesis and parathyroid hyperplasia. Proc Natl Acad Sci USA. 2018;115(16):E3749-E3758. doi: https://doi.org/10.1073/pnas.1717754115Fan Y, Liu W, Bi R, et al. Interrelated role of Klotho and calcium-sensing receptor in parathyroid hormone synthesis and parathyroid hyperplasia. Proc Natl Acad Sci USA. 2018;115(16):E3749-E3758. doi: https://doi.org/10.1073/pnas.1717754115Lee JY, Shoback DM. Familial hypocalciuric hypercalcemia and related disorders. Best Pract Res Clin Endocrinol Metab. 2018;32(5):609-619. doi: https://doi.org/10.1016/j.beem.2018.05.004Lee JY, Shoback DM. Familial hypocalciuric hypercalcemia and related disorders. Best Pract Res Clin Endocrinol Metab. 2018;32(5):609-619. doi: https://doi.org/10.1016/j.beem.2018.05.004Sadacharan D, Mahadevan S, Rao SS, et al. Neonatal Severe Primary Hyperparathyroidism: A Series of Four Cases and their Long-term Management in India. Indian J Endocrinol Metab. 2020;24(2):196-201. doi: https://doi.org/10.4103/ijem.IJEM_53_20Sadacharan D, Mahadevan S, Rao SS, et al. Neonatal Severe Primary Hyperparathyroidism: A Series of Four Cases and their Long-term Management in India. Indian J Endocrinol Metab. 2020;24(2):196-201. doi: https://doi.org/10.4103/ijem.IJEM_53_20Fisher MM, Cabrera SM, Imel EA. Successful treatment of neonatal severe hyperparathyroidism with cinacalcet in two patients. Endocrinol Diabetes Metab Case Rep. 2015;2015:150040. doi: https://doi.org/10.1530/EDM-15-0040Fisher MM, Cabrera SM, Imel EA. Successful treatment of neonatal severe hyperparathyroidism with cinacalcet in two patients. Endocrinol Diabetes Metab Case Rep. 2015;2015:150040. doi: https://doi.org/10.1530/EDM-15-0040Cristina EV, Alberto F. Management of familial hyperparathyroidism syndromes: MEN1, MEN2, MEN4, HPT-Jaw tumour, Familial isolated hyperparathyroidism, FHH, and neonatal severe hyperparathyroidism. Best Pract Res Clin Endocrinol Metab. 2018;32(6):861-875. doi: https://doi.org/10.1016/j.beem.2018.09.010Cristina EV, Alberto F. Management of familial hyperparathyroidism syndromes: MEN1, MEN2, MEN4, HPT-Jaw tumour, Familial isolated hyperparathyroidism, FHH, and neonatal severe hyperparathyroidism. Best Pract Res Clin Endocrinol Metab. 2018;32(6):861-875. doi: https://doi.org/10.1016/j.beem.2018.09.010Горбачева А.М., Еремкина А.К., Мокрышева Н.Г. Наследственные «ндромальные и несиндромальные формы первичного гиперпаратиреоза // Проблемы Эндокринологии. — 2020. — Т. 66. — №1. — С. 23-34. 2020;66(1):23-34. doi: https://doi.org/10.14341/probl10357Gorbacheva AM, Eremkina AK, Mokrysheva NG. Hereditary syndromal and nonsyndromal forms of primary hyperparathyroidism. Problems of Endocrinology. 2020;66(1):23-34. (In Russ.). doi: https://doi.org/10.14341/probl10357Roszko KL, Bi RD, Mannstadt M. Autosomal Dominant Hypocalcemia (Hypoparathyroidism) Types 1 and 2. Front Physiol. 2016;7:458. doi: https://doi.org/10.3389/fphys.2016.00458Roszko KL, Bi RD, Mannstadt M. Autosomal Dominant Hypocalcemia (Hypoparathyroidism) Types 1 and 2. Front Physiol. 2016;7:458. doi: https://doi.org/10.3389/fphys.2016.00458Mrad FCC, Soares SBM, de Menezes Silva LAW, et al. Bartter's syndrome: clinical findings, genetic causes and therapeutic approach. World J Pediatr. 2021;17(1):31-39. doi: https://doi.org/10.1007/s12519-020-00370-4Mrad FCC, Soares SBM, de Menezes Silva LAW, et al. Bartter's syndrome: clinical findings, genetic causes and therapeutic approach. World J Pediatr. 2021;17(1):31-39. doi: https://doi.org/10.1007/s12519-020-00370-4Рунова Г.Е., Голоунина О.О., Глинкина И.В. и др. Дифференциальная диагностика нормокальциемического варианта первичного гиперпаратиреоза и идиопатической гиперкальциурии на примере клинического случая // Проблемы Эндокринологии. — 2020. — Т. 66. — №6. — С. 13-17. doi: https://doi.org/10.14341/probl12677Runova GE, Golounina OO, Glinkina IV6 et al. Differential diagnosis of normocalcemic hyperparathyroidism and idiopathic hypercalciuria on the example of clinical case. Problems of Endocrinology. 2020;66(6):13-17. (In Russ.). doi: https://doi.org/10.14341/probl12677Worcester EM, Coe FL. New insights into the pathogenesis of idiopathic hypercalciuria. Semin Nephrol. 2008;28(2):120-132. doi: https://doi.org/10.1016/j.semnephrol.2008.01.005Worcester EM, Coe FL. New insights into the pathogenesis of idiopathic hypercalciuria. Semin Nephrol. 2008;28(2):120-132. doi: https://doi.org/10.1016/j.semnephrol.2008.01.005Garda Nieto VM, Luis Yanes MI, Tejera Carreno P, et al. The idiopathic hypercalciuria reviewed. Metabolic abnormality or disease? Nefrologia (Engl Ed). 2019;39(6):592-602. doi: https://doi.org/10.1016/j.nefro.2019.02.011Garda Nieto VM, Luis Yanes MI, Tejera Carreno P, et al. The idiopathic hypercalciuria reviewed. Metabolic abnormality or disease? Nefrologia (Engl Ed). 2019;39(6):592-602. doi: https://doi.org/10.1016/j.nefro.2019.02.011Голодников И.И., Павлова З.Ш., Камалов А.А., Савилов А.В. Кальций-чувствительный рецептор, а-клото и FGF21 в развитии нефролитиаза. Технологии живых систем. — 2021. — Т. 18. — №1. — С. 32-40. doi: https://doi.org/10.18127/j20700997-202101-03Golodnikov II, Pavlova ZSh, Kamalov AA, Savilov AV. Calcium-sensing receptor, а-klotho and FGF21 in the development of nephrolithiasis Tekhnologii zhivykh system. 2021;18(1):32-40 (In. Rus.). doi: https://doi.org/10.18127/j20700997-202101-03Vezzoli G, Tanini A, Ferrucci L, et al. Influence of calcium-sensing receptor gene on urinary calcium excretion in stoneforming patients. J Am Soc Nephrol. 2002;13(10):2517-2523. doi: https://doi.org/10.1097/01.asn.0000030077.72157.d2Vezzoli G, Tanini A, Ferrucci L, et al. Influence of calcium-sensing receptor gene on urinary calcium excretion in stoneforming patients. J Am Soc Nephrol. 2002;13(10):2517-2523. doi: https://doi.org/10.1097/01.asn.0000030077.72157.d2Litvinova MM, Khafizov K, Korchagin VI, et al. Association of CASR, CALCR, and ORAI1 Genes Polymorphisms With the Calcium Urolithiasis Development in Russian Population. Front Genet. 2021;12:621049. doi: https://doi.org/10.3389/fgene.2021.621049Litvinova MM, Khafizov K, Korchagin VI, et al. Association of CASR, CALCR, and ORAI1 Genes Polymorphisms With the Calcium Urolithiasis Development in Russian Population. Front Genet. 2021;12:621049. doi: https://doi.org/10.3389/fgene.2021.621049Patel YP, Pandey SN, Patel SB, et al. Haplotype of CaSR gene is associated with risk of renal stone disease in West Indian population. Urolithiasis. 2022;51(1):25. doi: https://doi.org/10.1007/s00240-022-01394-3Patel YP, Pandey SN, Patel SB, et al. Haplotype of CaSR gene is associated with risk of renal stone disease in West Indian population. Urolithiasis. 2022;51(1):25. doi: https://doi.org/10.1007/s00240-022-01394-3Vezzoli G, Terranegra A, Aloia A, et al. Decreased transcriptional activity of calcium-sensing receptor gene promoter 1 is associated with calcium nephrolithiasis. J Clin Endocrinol Metab. 2013;98(9):3839-3847. doi: https://doi.org/10.1210/jc.2013-1834Vezzoli G, Terranegra A, Aloia A, et al. Decreased transcriptional activity of calcium-sensing receptor gene promoter 1 is associated with calcium nephrolithiasis. J Clin Endocrinol Metab. 2013;98(9):3839-3847. doi: https://doi.org/10.1210/jc.2013-1834

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