Research & Literature

A novel mutation of the calcium-sensing receptor gene in a Greek family from Nisyros.

Zapanti E, Polonifi A, Kokkinos M, et al.

Hormones (Athens, Greece) 2015; (14(2)):321-5 doi:10.14310/horm.2002.1586.

A G-protein Subunit-α11 Loss-of-Function Mutation, Thr54Met, Causes Familial Hypocalciuric Hypercalcemia Type 2 (FHH2).

Gorvin CM, Cranston T, Hannan FM, et al.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2016; (31(6)):1200-6 doi:10.1002/jbmr.2778.

The influence of thiazide intake on calcium and parathyroid hormone levels in patients with primary hyperparathyroidism.

Riss P, Kammer M, Selberherr A, et al.

Clinical endocrinology 2016; (85(2)):196-201 doi:10.1111/cen.13046.

Localization and function of the renal calcium-sensing receptor.

Riccardi D, Valenti G

Nature reviews. Nephrology 2016; (12(7)):414-25 doi:10.1038/nrneph.2016.59.

[Pharmacological characteristics of drugs targeted on calcium-sensing receptor.-properties of cinacalcet hydrochloride as allosteric modulator].

Nagano N, Tsutsui T

Clinical calcium 2016; (26(6)):839-50.

Heterozygous inactivating CaSR mutations causing neonatal hyperparathyroidism: function, inheritance and phenotype.

Glaudo M, Letz S, Quinkler M, et al.

European journal of endocrinology 2016; (175(5)):421-31 doi:10.1530/EJE-16-0223.

Multiple endocrine neoplasia phenocopy revealed as a co-occurring neuroendocrine tumor and familial hypocalciuric hypercalcemia type 3.

Hovden S, Jespersen ML, Nissen PH, et al.

Clinical case reports 2016; (4(10)):922-927 doi:10.1002/ccr3.657.

The Biochemical Profile of Familial Hypocalciuric Hypercalcemia and Primary Hyperparathyroidism during Pregnancy and Lactation: Two Case Reports and Review of the Literature.

Ghaznavi SA, Saad NM, Donovan LE

Case reports in endocrinology 2016; (2016()):2725486 doi:10.1155/2016/2725486.

Stepwise CaSR, AP2S1, and GNA11 sequencing in patients with suspected familial hypocalciuric hypercalcemia.

Szalat A, Shpitzen S, Tsur A, et al.

Endocrine 2017; (55(3)):741-747 doi:10.1007/s12020-017-1241-5.

[The functions of calcium-sensing receptor in regulating mineral metabolism.]

Kinoshita Y

Clinical calcium 2017; (27(4)):491-497.

[Disorders Caused by Mutations in Calcium-Sensing Receptor and Related Diseases.]

Michigami T

Clinical calcium 2017; (27(4)):521-527.

Cinacalcet corrects hypercalcemia in mice with an inactivating Gα11 mutation.

Howles SA, Hannan FM, Gorvin CM, et al.

JCI insight 2017; (2(20)).

Familial Hyperparathyroidism - Disorders of Growth and Secretion in Hormone-Secretory Tissue.

Marx SJ, Lourenço DM

Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme 2017; (49(11)):805-815 doi:10.1055/s-0043-120670.

Successful use of cinacalcet to treat parathyroid-related hypercalcemia in two pediatric patients.

Mogas E, Campos-Martorell A, Clemente M, et al.

Endocrinology, diabetes & metabolism case reports 2018; (2018()).

CALCIUM CREATININE CLEARANCE RATIO IS NOT HELPFUL IN DIFFERENTIATING PRIMARY HYPERPARATHYROIDISM FROM FAMILIAL HERPERCALCEMIC HYPOCALCIURIA: A STUDY OF 1000 PATIENTS.

Moore EC, Berber E, Jin J, et al.

Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists 2018; doi:10.4158/EP-2018-0350.

Calcium-sensing receptor: evidence and hypothesis for its role in nephrolithiasis.

Vezzoli G, Macrina L, Magni G, Arcidiacono T

Urolithiasis 2019; (47(1)):23-33 doi:10.1007/s00240-018-1096-0.

Familial hypocalciuric hypercalcemia and related disorders.

Lee JY, Shoback DM

Best practice & research. Clinical endocrinology & metabolism 2018; (32(5)):609-619 doi:10.1016/j.beem.2018.05.004.

Identification of a novel large CASR deletion in a patient with familial hypocalciuric hypercalcemia.

García-Castaño A, Madariaga L, Azriel S, et al.

Endocrinology, diabetes & metabolism case reports 2018; (2018()).

Cinacalcet corrects biased allosteric modulation of CaSR by AHH autoantibody.

Makita N, Ando T, Sato J, et al.

JCI insight 2019; (4(8)).

Primary hyperparathyroidism versus familial hypocalciuric hypercalcemia: a challenging diagnostic evaluation in an adolescent female.

Tosur M, Lopez ME, Paul DL

Annals of pediatric endocrinology & metabolism 2019; (24(3)):195-198 doi:10.6065/apem.2019.24.3.195.

Parathyroid hormone-dependent familial hypercalcemia with low measured PTH levels and a presumptive novel pathogenic mutation in CaSR.

Mahajan A, Buse J, Kline G

Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA 2020; (31(1)):203-207 doi:10.1007/s00198-019-05170-9.

Neonatal Hypocalcemic Seizures in Offspring of a Mother With Familial Hypocalciuric Hypercalcemia Type 1 (FHH1).

Dharmaraj P, Gorvin CM, Soni A, et al.

The Journal of clinical endocrinology and metabolism 2020; (105(5)) doi:10.1210/clinem/dgaa111.

Clinical characteristics of familial hypocalciuric hypercalcaemia type 1: A multicentre study of 77 adult patients.

Mouly C, Vargas-Poussou R, Lienhardt A, et al.

Clinical endocrinology 2020; (93(3)):248-260 doi:10.1111/cen.14211.

Familial Hypocalciuric Hypercalcemia Type 1 and Autosomal-Dominant Hypocalcemia Type 1: Prevalence in a Large Healthcare Population.

Dershem R, Gorvin CM, Metpally RPR, et al.

American journal of human genetics 2020; (106(6)):734-747 doi:10.1016/j.ajhg.2020.04.006.

Familial Hypocalciuric Hypercalcemia in Pregnancy: Diagnostic Pitfalls.

Jones AR, Hare MJ, Brown J, et al.

JBMR plus 2020; (4(6)):e10362 doi:10.1002/jbm4.10362.

Calcium-Sensing Receptor and Regulation of WNK Kinases in the Kidney.

Ostroverkhova DS, Hu J, Tarasov VV, et al.

Cells 2020; (9(7)) doi:10.3390/cells9071644.

Think twice: a rare calcium sensing receptor mutation and a new diagnosis of familial hypocalciuric hypercalcaemia.

Tellam JJ, Abdulrasool G, Ciin LCH

Endocrinology, diabetes & metabolism case reports 2020; (2020()).

Familial hypocalciuric hypercalcemia caused by homozygous CaSR gene mutation: A case report of a family.

Wang F, Hu J, Mei C, et al.

Medicine 2020; (99(35)):e21940 doi:10.1097/MD.0000000000021940.

Familial hypocalciuric hypercalcemia in an index male: grey zones of the differential diagnosis from primary hyperparathyroidism in a 13-year clinical follow up.

Zajíčková K, Dvořáková M, Moravcová J, et al.

Physiological research 2020; (69(Suppl 2)):S321-S328 doi:10.33549/physiolres.934522.

[A series of clinical cases of familial hypocalciuric hypercalcemia syndrome].

Krupinova JA, Almaskhanova AA, Eremkina AK, et al.

Problemy endokrinologii 2020; (66(5)):61-69 doi:10.14341/probl12537.

Rare diseases caused by abnormal calcium sensing and signalling.

Tőke J, Czirják G, Enyedi P, Tóth M

Endocrine 2021; (71(3)):611-617 doi:10.1007/s12020-021-02620-5.

Is routine 24-hour urine calcium measurement useful during the evaluation of primary hyperparathyroidism?

Li SR, McCoy KL, Levitt HE, et al.

Surgery 2022; (171(1)):17-22 doi:10.1016/j.surg.2021.04.055.

Case Report: Severe Neonatal Course in Paternally Derived Familial Hypocalciuric Hypercalcemia.

Höppner J, Lais S, Roll C, et al.

Frontiers in endocrinology 2021; (12()):700612 doi:10.3389/fendo.2021.700612.

Severe Symptomatic Hypercalcemia in a Patient With Familial Hypocalciuric Hypercalcemia.

Kurian R, Madegowda Chandrashekar G, Antony MA, et al.

Cureus 2021; (13(11)):e20057 doi:10.7759/cureus.20057.

Case Report: Unusual Presentations of Loss-of-Function Mutations of the Calcium-Sensing Receptor.

Palmieri S, Grassi G, Guarnieri V, et al.

Frontiers in medicine 2021; (8()):809067 doi:10.3389/fmed.2021.809067.

Novel mutations of the calcium-sensing receptor impede differential diagnosis of primary hyperparathyroidism and familial hypocalciuric hypercalcemia.

Bhangu JS, Baumgartner-Parzer S, Hargitai L, et al.

Gland surgery 2022; (11(1)):12-22 doi:10.21037/gs-21-577.

Prenatal bone abnormalities in three cases of familial hypocalciuric hypercalcemia.

Frerot A, Baudouin V, Rideau-Batista A, et al.

Prenatal diagnosis 2022; (42(5)):583-588 doi:10.1002/pd.6134.

Calcium homeostasis and hyperparathyroidism: Nephrologic and endocrinologic points of view.

Lemoine S, Figueres L, Bacchetta J, et al.

Annales d'endocrinologie 2022; (83(4)):237-243 doi:10.1016/j.ando.2022.05.003.

A case of familial hypocalciuric hypercalcemia type 1 due to CASR p.Pro55Leu mutation.

Sumida A, Iizuka K, Kato T, et al.

BMC endocrine disorders 2022; (22(1)):164 doi:10.1186/s12902-022-01077-5.

Reduced affinity of calcium sensing-receptor heterodimers and reduced mutant homodimer trafficking combine to impair function in a model of familial hypocalciuric hypercalcemia type 1.

Wang X, Lundblad J, Smith SM

PloS one 2022; (17(7)):e0266993 doi:10.1371/journal.pone.0266993.

[Syndrome of hypocalсiuric hypercalcemia. Is it rare? Two clinical cases in an outpatient clinic].

Sviridonova MA

Problemy endokrinologii 2022; (68(5)):24-31 doi:10.14341/probl13125.

Generation of an induced pluripotent stem cell line CSSi015-A (9553), carrying a point mutation c.2915C > T in the human calcium sensing receptor (CasR) gene.

Rotundo G, Turco EM, Ruotolo G, et al.

Stem cell research 2023; (67()):103023 doi:10.1016/j.scr.2023.103023.

Cinacalcet Reverses Short QT Interval in Familial Hypocalciuric Hypercalcemia Type 1.

Cuny T, Romanet P, Goldsworthy M, et al.

The Journal of clinical endocrinology and metabolism 2024; (109(2)):549-556 doi:10.1210/clinem/dgad494.

Genetics of hereditary forms of primary hyperparathyroidism.

English KA, Lines KE, Thakker RV

Hormones (Athens, Greece) 2024; (23(1)):3-14 doi:10.1007/s42000-023-00508-9.

Allosteric modulation and G-protein selectivity of the Ca2+-sensing receptor.

He F, Wu CG, Gao Y, et al.

Nature 2024; (626(8001)):1141-1148 doi:10.1038/s41586-024-07055-2.

A novel mouse model for familial hypocalciuric hypercalcemia (FHH1) reveals PTH-dependent and independent CaSR defects.

Küng CJ, Daryadel A, Fuente R, et al.

Pflugers Archiv : European journal of physiology 2024; (476(5)):833-845 doi:10.1007/s00424-024-02927-y.

Nephrotic Syndrome Complicated with Familial Hypocalciuric Hypercalcemia in an Infant: A Case Report and Comprehensive Literature Review.

Yu M, Xue M, Fan X, et al.

Alternative therapies in health and medicine 2024;.

Case report: familial hypocalciuric hypercalcemia.

Al-Ramdhan A, Al-Ashwal A, Albagshi H, et al.

AME case reports 2024; (8()):55 doi:10.21037/acr-23-132.

Familial hypocalciuric hypercalcemia in an infant: diagnosis and management quandaries.

Goldsweig B, Turk Yilmaz RS, Ravindranath Waikar A, et al.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2024; (39(10)):1406-1411 doi:10.1093/jbmr/zjae137.

Primary Hyperparathyroidism With Undetectable Intact Parathyroid Hormone.

Song Z, McMullin J, Huls F, et al.

Clinical medicine insights. Endocrinology and diabetes 2024; (17()):11795514241290125 doi:10.1177/11795514241290125.

Is biochemical screening enough to guide calcium-sensing receptor gene mutational analysis when diagnosing familial hypocalciuric hypercalcemia? A retrospective study.

Flaris AN, Julsrud TO, Vierkant RA, et al.

Surgery 2025; (177()):108840 doi:10.1016/j.surg.2024.07.077.

CASRdb: A Publicly Accessible Comprehensive Database for Disease-Associated Calcium-Sensing Receptor Variants.

Charoenngam N, Wattanachayakul P, Mannstadt M

The Journal of clinical endocrinology and metabolism 2025; (110(2)):297-302 doi:10.1210/clinem/dgae769.

Demineralization of Osseous Structures as Presentation of a Rare Genetic Disorder That Is Associated With a High Rate of Mortality.

Afrah A, Finkel MA, Fonseca C, et al.

Case reports in endocrinology 2024; (2024()):6063059 doi:10.1155/crie/6063059.

Case Report: Familial hypocalciuric hypercalcemia type 1 with a novel mutation combined with Gitelman syndrome and a review of the literature.

He T, Li X, Li G, et al.

Frontiers in endocrinology 2025; (16()):1503128 doi:10.3389/fendo.2025.1503128.

Management of Primary Hyperparathyroidism: Historical and Contemporary Perspectives.

Htoo STY, Cusano NE

Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists 2025; (31(11)):1488-1494 doi:10.1016/j.eprac.2025.07.009.

A Rare Case of Familial Hypocalciuric Hypercalcemia in Patient With Pancreatitis.

Khan MI, Jain T, Abid MM, et al.

Journal of community hospital internal medicine perspectives 2025; (15(4)):66-68 doi:10.55729/2000-9666.1497.

A Hypercalcemic Deception: Uncovering an Unusual Case of Familial Hypocalciuric Hypercalcemia.

Gandhi SM, Nylen ES

Cureus 2025; (17(10)):e95514 doi:10.7759/cureus.95514.

Neonatal hypocalcemia caused by maternal hypercalcemia: clinical characteristics, etiology, treatment, and outcome.

Ding JJ, Chiu CF, Su YT, et al.

Pediatric research 2025; doi:10.1038/s41390-025-04577-x.