Calcium sensing receptor: Physiology and pathology;Le récepteur sensible au calcium: Physiologie et pathologie

Annales d'Endocrinologie

Volumn 67, Issue 1, 2006, Pages 45-53

  Faivre Defrance, F ^b   Marcelli Tourvieille, S ^b   Odou, M F ^b   Porchet, N ^b   Wemeau, J L ^b   Vantyghem, M C ^a  

^a LILLE UNIVERSITY HOSPITAL   (France)

^b NONE

Author keywords

Bartter; Calcimimetics; Calcium sensing receptor; Hypercalcemia; Hypocalcemia; Marx Aurbach

Indexed keywords

CALCIMIMETIC AGENT; CALCIUM; CALCIUM SENSING RECEPTOR; VITAMIN D;

AUTOIMMUNE DISEASE; AUTOSOMAL DOMINANT DISORDER; BARTTER SYNDROME; CALCIUM BLOOD LEVEL; CALCIUM URINE LEVEL; CLINICAL FEATURE; CONGENITAL HYPOTHYROIDISM; DISEASE ASSOCIATION; DISEASE SEVERITY; DNA POLYMORPHISM; GENE MUTATION; GENETIC DISORDER; HUMAN; HYPERCALCEMIA; HYPERTHYROIDISM; HYPOCALCEMIA; HYPOCALCIURIA; MORPHOLOGY; PATHOLOGY; PHYSIOLOGY; REVIEW; SIGNAL TRANSDUCTION; TREATMENT INDICATION;

EID: 33645985820     PISSN: 00034266     EISSN: None     Source Type: Journal    
DOI: 10.1016/s0003-4266(06)72540-9     Document Type: Review

References (52)

1. Alvarez-Hernandez D, Santamaria I, Rodriguez-Garcia M, Iglesias P, Delgado-Lillo R, Cannata-Andia JB. A novel mutation in the calcium-sensing receptor responsible for autosomal dominant hypocalcemia in a family with two uncommon parathyroid hormone polymorphisms. J Mol Endocrinol 2003 ; 31 : 255-62.
2. Bai M, Pearce SH, Kifor O et al. In vivo and in vitro characterization of neonatal hyperparathyroidism resulting from a de novo, heterozygous mutation in the Ca2+-sensing receptor gene : normal maternal calcium homeostasis as a cause of secondary hyperparathyroidism in familial benign hypocalciuric hypercalcemia. J Clin Invest 1997 ; 99 : 88-96.
3. Bai M, Trivedi S, Kifor O, Quinn SJ, Brown EM. Intermolecular interactions between dimeric calcium-sensing receptor monomers are important for its normal function. Proc Natl Acad Sci USA 1999 ; 96 : 2834-9.
4. Baron J, Winer KK, Yanovski JA et al. Mutations in the Ca(2+)-sensing receptor gene cause autosomal dominant and sporadic hypoparathyroidism. Hum Mol Genet 1996 : 601-6.
5. Block GA, Martin KJ, de Francisco AL et al. Cinacalcet for secondary hyperparathyroidism in patients receiving hemodialysis. N Engl J Med 2004 ; 350 : 1516-25.
6. Brown EM, Gamba G, Riccardi D et al. Cloning and characterization of an extracellular Ca(2+)-sensing receptor from bovine parathyroid. Nature 1993 ; 366 : 575-80.
7. Burski K, Torjussen B, Paulsen AQ, Boman H, Bollerslev J. Parathyroid adenoma in a subject with familial hypocalciuric hypercalcemia: coincidence or causality? J Clin Endocrinol Metab 2002 ; 87 : 1015-6.
8. Carling T, Szabo E, Bai M et al. Familial hypercalcemia and hypercalciuria caused by a novel mutation in the cytoplasmic tail of the calcium receptor. J Clin Endocrinol Metab 2000 ; 85 : 2042-7.
9. Cetani F, Pardi E, Borsari S et al. Calcium-sensing receptor gene polymorphism is not associated with bone mineral density in Italian postmenopausal women. Eur J Endocrinol 2003; 148 : 603-7.
10. Cetani F, Picone A, Cerrai P et al. Parathyroid expression of calcium-sensing receptor protein and in vivo parathyroid hormone-Ca(2+) set-point in patients with primary hyperparathyroidism. J Clin Endocrinol Metab 2000 ; 85 : 4789-94.
11. Cetan F, Pinchera A, Pardi E et al. No evidence for mutations in the calcium-sensing receptor gene in sporadic parathyroid adenomas. J Bone Miner Res 1999 ; 14 : 878-82.
12. Chikatsu N, Watanabe S, Takeuchi Y et al. A family of autosomal dominant hypocalcemia with an activating mutation of calcium-sensing receptor gene. Endocr J 2003 ; 50 : 91-6.
13. Cole DE, Vieth R, Trang HM, Wong BY, Hendy GN, Rubin LA. Association between total serum calcium and the A986S polymorphism of the calcium-sensing receptor gene. Mol Genet Metab 2001 ; 72 : 168-74.
14. Collins MT, Skarulis MC, Bilezikian JP, Silverberg SJ, Spiegel AM, Marx SJ. Treatment of hypercalcemia secondary to parathyroid carcinoma with a novel calcimimetic agent. Clin Endocrinol Metab 1998 ; 83 : 1083-8.
15. Corbetta S, Mantovani G, Lania A et al. Calcium-sensing receptor expression and signalling in human parathyroid adenomas and primary hyperplasia. Clin Endocrinol (Oxf) 2000 ; 52 : 339-48.
16. Davies M, Klimiuk PS, Adams PH, Lumb GA, Large DM, Anderson DC. Familial hypocalciuric hypercalcaemia and acute pancreatitis. Br Med J (Clin Res Ed) 1981; 282: 1023-5.
17. De Luca F, Ray K, Mancilla EE et al. Sporadic hypoparathyroidism caused by de Novo gain-of-function mutations of the Ca(2+)-sensing receptor. Clin Endocrinol Metab 1997 ; 82(8) : 2710-5.
18. Garrett JE, Capuano IV, Hammerland LG et al. Molecular cloning and functional expression of human parathyroid calcium receptor cDNAs. J Biol Chem 1995 ; 270 : 12919-25.
19. Goswami R, Brown EM, Kochupillai N et al. Prevalence of calcium sensing receptor autoantibodies in patients with sporadic idiopathic hypoparathyroidism. Eur J Endocrinol 2004 ; 150 : 9-18.
20. Gowen M, Stroup GB, Dodds RA et al. Antagonizing the parathyroid calcium receptor stimulates parathyroid hormone secretion and bone formation in osteopenic rats. J Clin Invest 2000 ; 105 : 1595-604.
21. Gunn IR, Wallace JR. Urine calcium and serum ionized calcium, total calcium and parathyroid hormone concentrations in the diagnosis of primary hyperparathyroidism and familial benign hypercalcaemia Ann Clin Biochem 1992 ; 29 : 52-8.
22. Haven CJ, van Puijenbroek M, Karperien M, Fleuren GJ, Morreau H. Differential expression of the calcium sensing receptor and combined loss of chromosomes 1 q and 11 q in parathyroid carcinoma. J Pathol 2004 ; 202 : 86-94.
23. Hendy GN, D'Souza-Li L, Yang B, Canaff L, Cole DE. Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia. Hum Mutat 2000 ; 16: 281-96.
24. Hosokawa Y, Pollak MR, Brown EM, Arnold A. Mutational analysis of the extracellular Ca(2+)-sensing receptor gene in human parathyroid tumors. J Clin Endocrinol Metab 1995 ; 80 : 3107-10.
25. Jackson CE, Boonstra. Hereditary hypercalcemia and parathyroid hyperplasia without definite hyperparathyroidism. J lab Clin Med 1966; 68 : 883 Abst 62.
26. Kifor O, Moore FD Jr, Delaney M et al. A syndrome of hypocalciuric hypercalcemia caused by autoantibodies directed at the calcium-sensing receptor. J Clin Endocrinol Metab 2003 ; 88 : 60-72.
27. Kifor O, McElduff A, LeBoff MS et al. Activating antibodies to the calcium-sensing receptor in two patients with autoimmune hypoparathyroidism. J Clin Endocrinol Metab 2004 ; 89 : 548-56.
28. Law WM Jr, Carney JA, Heath H 3rd. Parathyroid glands in familial benign hypercalcemia (familial hypocalciuric hypercalcemia). Am J Med 1984 ; 76 : 1021-6.
29. Lerolle N, Coulet F, Lantz B et al. No evidence for point mutations of the calcium-sensing receptor in familial idiopathic hypercalciuria. Nephrol Dial Transplant 2001 ; 16 : 2317-22.
30. Li Y, Song YH, Rais N et al. Autoantibodies to the extracellular domain of the calcium sensing receptor in patients with acquired hypoparathyroidism. J Clin Invest 1996 ; 97 : 910-4.
31. Lienhardt A, Bai M, Lagarde JP et al. Activating mutations of the calcium-sensing receptor: management of hypocalcemia. J Clin Endocrinol Metab 2001 ; 86 : 5313-23.
32. Lienhardt A, Garabedian M, Bai M et al. A large homozygous or heterozygous in-frame deletion within the calcium-sensing receptor's carboxylterminal cytoplasmic tail that causes autosomal dominant hypocalcemia. J Clin Endocrinol Metab 2000 ; 85 : 1695-702.
33. Lloyd SE, Pannett AA, Dixon PH, Whyte MP, Thakker RV. Localization of familial benign hypercalcemia, Oklahoma variant (FBHOk), to chromosome 19q13. Am J Hum Genet 1999 ; 64 : 189-95.
34. Lorentzon M, Lorentzon R, Lerner UH, Nordstrom P. Calcium sensing receptor gene polymorphism, circulating calcium concentrations and bone mineral density in healthy adolescent girls. Eur J Endocrinol 2001 ; 144 : 257-61.
35. Miedlich S, Lamesch P, Mueller A, Paschke R. Frequency of the calcium-sensing receptor variant A986S in patients with primary hyperparathyroidism. Eur J Endocrinol 2001 ; 145 : 421-7.
36. Miyashiro K, Kunii I, Manna TD et al. Severe hypercalcemia in a 9-year-old Brazilian girl due to a novel inactivating mutation of the calcium-sensing receptor. J Clin Endocrinol Metab 2004 Dec ; 89 : 5936-41.
37. Nemeth EF. The search for calcium receptor antagonists (calcilytics) J Mol Endocrinol 2002; 29: 15-21.
38. Poppe K, Karmali R, Lissens W et al. Citrate infusion test in the diagnosis of hypocalcemia due to a mutation in the calcium-sensing receptor gene. Eur J Intern Med 2002 ; 13 : 276-9.
39. Peacock M, Bilezikian JP, Klassen PS, Guo MD, Turner SA, Shoback D. Cinacalcet hydrochloride maintains long-term normocalcemia in patients with primary hyperparathyroidism. J Clin Endocrinol Metab 2005 ; 90 : 135-41.
40. Pearce SH, Wooding C, Davies M, Tollefsen SE, Whyte MP, Thakker RV. Calcium-sensing receptor mutations in familial hypocalciuric hypercalcaemia with recurrent pancreatitis. Clin Endocrinol (Oxf) 1996 ; 45 : 675-80.
41. Pidasheva S, D'Souza-Li L, Canaff L, Cole DE, Hendy GN. CASRdb: calcium-sensing receptor locus-specific database for mutations causing familial (benign) hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia. Hum Mutat 2004 ; 24 : 107-11.
42. Posillico JT, Wortsman J, Srikanta S, Eisenbarth GS, Mallette LE, Brown EM. Parathyroid cell surface autoantibodies that inhibit parathyroid hormone secretion from dispersed human parathyroid cells. J Bone Miner Res 1986 ; 1 : 475-83.
43. Shiohara M, Mori T, Mei B, Brown EM, Watanabe T, Yasuda T. A novel gain-of-function mutation (F821L) in the transmembrane domain of calcium-sensing receptor is a cause of severe sporadic hypoparathyroidism. Eur J Pediatr 2004 ; 163 : 94-8.
44. Shoback DM, Bilezikian JP, Turner SA, McCary LC, Guo MD, Peacock M. The calcimimetic cinacalcet normalizes serum calcium in subjects with primary hyperparathyroidism. J Clin Endocrinol Metab 2003 ; 88 : 5644-9.
45. Takacs I, Speer G, Bajnok E et al. Lack of association between calcium-sensing receptor gene "A986S" polymorphism and bone mineral density in Hungarian postmenopausal women. Bone 2002 ; 30 : 849-52.
46. Vargas-Poussou R, Huang C, Hulin P et al. Functional characterization of a calcium-sensing receptor mutation in severe autosomal dominant hypocalcemia with a Bartter-like syndrome. J Am Soc Nephrol 2002 ; 13 : 2259-66.
47. Vezzoli G, Tanini A, Ferrucci L et al. Influence of calcium-sensing receptor gene on urinary calcium excretion in stone-forming patients. J Am Soc Nephrol 2002 ; 13 : 2517-23.
48. Watanabe S, Fukumoto S, Chang H et al. Association between activating mutations of calcium-sensing receptor and Bartter's syndrome. Lancet 2002 ; 360 : 692-4.
49. Wystrychowski A, Pidasheva S, Canaff L et al. Functional characterization of calcium-sensing receptor codon 227 mutations presenting as either familial (benign) hypocalciuric hypercalcemia or neonatal hyperparathyroidism. Clin Endocrinol Metab 2005 ; 90 : 864-70.
50. Yamauchi M, Sugimoto T, Yamaguchi T et al. Association of polymorphic alleles of the calcium-sensing receptor gene with the clinical severity of primary hyperparathyroidism. Clin Endocrinol (Oxf) 2001 ; 55 : 373-9.
51. Yano S, Sugimoto T, Tsukamoto T et al. Association of decreased calcium-sensing receptor expression with proliferation of parathyroid cells in secondary hyperparathyroidism. Kidney Int 2000 ; 58 : 1980-6.
52. Yano S, Sugimoto T, Kanzawa M et al. Association of polymorphic alleles of the calcium-sensing receptor gene with parathyroid hormone secretion in hemodialysis patients. Nephron 2000 ; 85 : 317-23.