Influence of calcium-sensing receptor gene on urinary calcium excretion in stone-forming patients

Journal of the American Society of Nephrology

Volumn 13, Issue 10, 2002, Pages 2517-2523

  Vezzoli, Giuseppe ^a   Tanini, Annalisa ^a   Ferrucci, Luigi ^a   Soldati, Laura ^a   Bianchin, Cristiana ^a   Franceschelli, Francesco ^a   Malentacchi, Cecilia ^a   Porfirio, Berardino ^a   Adamo, Donatella ^a   Falchetti, Alberto ^a   Terranegra, Annalisa ^a   Cusi, Daniele ^a   Bianchi, Giuseppe ^a   Brandi, Maria Luisa ^a  

^a SAN RAFFAELE HOSPITAL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM; CALCIUM SENSING RECEPTOR;

ADULT; ARTICLE; CALCIUM BLOOD LEVEL; CALCIUM EXCRETION; CONTROLLED STUDY; FEMALE; GENE FREQUENCY; GENE SEQUENCE; HAPLOTYPE; HUMAN; HYPERCALCIURIA; KIDNEY TUBULE ABSORPTION; MAJOR CLINICAL STUDY; MALE; NEPHROLITHIASIS; PHENOTYPE; PRIORITY JOURNAL; RECEPTOR GENE; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; URINARY EXCRETION;

EID: 18544385290     PISSN: 10466673     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.ASN.0000030077.72157.D2     Document Type: Article

References (36)

1. Brown EM: Physiology and pathophysiology of the extracellular calcium-sensing receptor. Am J Med 106: 238-253, 1999
2. Riccardi D, Park JI, Lee WS, Gamba G, Brown EM, Hebert SC: Cloning and functional expression of a rat kidney extracellular calcium/polyvalent cation-sensing receptor. Proc Natl Acad Sci USA 92: 131-135, 1995
3. Brown EM, Gamba G, Riccardi D, Lombardi M, Butters R, Kifor O, Sun A, Lytton J, Herbert C: Cloning and characterization of an extracellular Ca-sensing receptor from bovine parathyroid. Nature 366: 575-580, 1993
4. Blankenship KA, William JJ, Lawrence MS, McLeish KR, Dean WL, Arthur JM: The calcium-sensing receptor regulates calcium absorption in MDCK cells by inhibition of PMCA. Am J Physiol Renal Physiol 280: F815-F822, 2001
5. Chattopadhyay N, Cheng I, Rogers K, Riccardi D, Hall A, Diaz R, Herbert SC, Soybel DI, Brown EM: Identification and localization of extracellular Ca-sensing receptor in rat intestine. Am J Physiol Gastroint Liver Physiol 274: G122-G130, 1998
6. Yamaguchi T, Chattopadhyay N, Kifor O, Ye C, Vassilev PM, Sanders JL, Brown EM: Expression of extracellular calcium-sensing receptor in human osteoblastic MG-63 cell line. Am J Physiol Cell Physiol 280: C382-C393, 2001
7. Katanani M, Sugimoto T, Kanzawa M, Yano S, Chiara K: Hogh extracellular calcium inhibits osteoclast-like cell formation by directly acting on the calcium-sensing receptor existing in osteoclast precursor cells. Biochem Biophys Res Comm 261: 144-148, 1999
8. Ruat M, Molliver ME, Snowman AM, Snyder SH: Calcium sensing receptor: Molecular cloning in rat and localization to nerve terminals. Proc Natl Acad Sci USA 92: 3161-3165, 1995
9. Pollak MR, Brown EM, Chou YH, Herbert SC, Marx SJ, Steinmann B, Seidman CE: Mutation in the human Ca-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Cell 75: 1237-1239, 1993
10. Pearce SHS, Trump D, Wooding C, Besser GM, Chew SL, Grant DB, Heath DA, Hughes IA, Paterson CR, Whyte MP, Thakker RV: Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism. J Clin Invest 96: 2683-2692, 1995
11. Pearce SH, Williamson C, Kifor, Bai M, Coulthard MG, Davies M, Lewis-Barbed N, McCredie D, Powell H, Kendall-Taylor P, Brown EM, Thakker RV: A familial syndrome of hypocalcemia with hypercalciuria due to mutation in the calcium-sensing receptor. New Engl J Med 335: 1115-1122, 1996
12. Cole DEC, Peltekova VD, Rubin LA, Hawker GA, Virth R, Hwang DM, Evrovski J, Hendy GN: A986S polymorphism of the calcium-sensing receptor and circulating calcium concentrations. Lancet 353: 112-115, 1998
13. Heath H, Oldberg S, Jackson CE, Teh BT, Hayward N, Larsson C, Buist NRM, Krapcho KJ, Hung BC, Capuano IV, Garret JE, Leppert MF: Clustered inactivating mutations and benign polymorphisms of calcium receptor gene in familial benign hypocalciuric hypercalcemia suggest receptor functional domains. J Clin Endocrinol Metab 8: 1312-1317, 1996
14. Herbert S: Extracellular calcium-sensing receptor: Implications for calcium and magnesium handling in the kidney. Kidney Int 50: 2129-2139, 1996
15. Coe F, Parks JH, Moore ES: Familial idiopathic hypercalciuria. N Engl J Med 300: 337-340, 1979
16. Breslau NA, Coe FL: Management of idiopathic hypercalciuria, In: Kidney Stones: Medical and Surgical Management, edited by Coe FL, Favus MJ, Pak CYC, Parks JH, Preminger GM, Philadelphia, Lippincott-Raven Company, 1996, pp 773-785
17. Petrucci M, Scott P, Ouimet D, Trouvé ML, Proulx Y, Valiquette L, Guay G, Bonnardeaux A: Evaluation of the calcium-sensing receptor gene in idiopathic hypercalciuria and calcium nephrolithiasis. Kidney Int 58: 38-42, 2000
18. Ferrucci L, Bandinelli S, Benvenuti E, Di Iorio A, Macchi C, Harris T, Guralnik JM: Subsystems contributing to the decline in ability to walk: Bridging the gap between epidemiology and geriatric pracitce in the inCHIANTI study. J Am Geriatr Soc 48: 1618-1625, 2000
19. Hodgkinson A, Pyrah LN: The urinary excretion of calcium and inorganic phosphate in 344 patients with calcium stone of renal origin. Brit J Surg 46: 10-18, 1958
20. Vezzoli G, Caumo A, Baragetti I, Zerbi S, Bellinzoni A, Centemero A, Rubinacci A, Moro GL, Adamo D, Bianchi G, Soldati L: Study of calcium metabolism in idiopayhic hypercalciuria by strontium oral load test. Clin Chem 45: 257-261, 1999
21. Vigouroux C, Bourut C, Guerci B, Ziegler O, Magré, J, Capeau J, Meyer L: A new missense mutation in the calcium-sensing receptor in familial benign hypercalcaemia associated with partial lipoatrophy and insulin resistant diabetes. Clin Endocrinol 53: 393-398, 2000
22. Lerolle N, Coulet F, Lantz B, Paillard F, Houillier P, Soubrier F, Gattegno B, Jeunemaitre X, Ronco P, Rondeau E: No evidence for point mutations of the calcium-sensing receptor in familiar idiopathic hypercalciuria. Nephrol Dial Transplant 16: 2317-2322, 2001
23. Yano S, Sugimoto T, Kanzawa M, Tsukamoto T, Hattori T, Hattori S, Chihara K: Association of polymorphic alleles of the calcium-sensing receptor gene with parathyroid hormone secretion in hemodialysis patients. Nephron 85: 317-323, 2000
24. st ed., edited by Falconer DS, Edinburgh, Oliver and Boyd, 1970, pp 5-22
25. Miedlich S, Lamesch P, Mueller A, Paschke R: Frequency of the calcium-sensing receptor variant A986S in patients with primary hyperparathyroidism. Eur J Endocrinol 145: 421-427, 2001
26. Lorentzon M, Lorentzon R, Lerner UH, Nordström P: Calcium sensing receptor gene polymorphism, circulating calcium concentrations and bone mineral density in healthy adolescent girls. Eur J Endocrinol 144: 257-261, 2001
27. Lemann J: Calcium and phosphate metabolism: an overview in health and in calcium stone formers. In: Kidney Stones, Medical and Surgical Management, edited by Coe FL, Favus MJ, Pak CY, Parks JH, Preminger GM, Philadelphia, Lippincott-Raven Ltd. 1996, pp 259-288
28. Goodman HO, Holmes RP, Assimos DG: Genetic factors in calcium oxalate stone disease. J Urol 153: 301-307, 1995
29. Risch NJ: Searching for genetic determinants in the new millennium. Nature 405: 847-856, 2000
30. Risch NJ, Merikangas K: The future of genetic studies of complex human diseases. Science 273: 1516-1518, 1996
31. Piazza A, Olivetti E, Barbanti M, Reali G, Domenici R, Giari A, Benciolini P, Caenazzo L, Cortivo P, Bestetti A: The distribution of some polymorphisms in Italy. Gene Geogr 3: 69-139, 1989
32. Pietschmann F, Breslau NA, Pak CY: Reduced vertebral bone density in hypercalciuric nephrolithiasis. J Bone Miner Res 7: 1383-1888, 1992
33. Barkin J, Wilson DR, Manuel MA, Bayley A, Murray T, Harrison J: Bone mineral content in idiopathic calcium nephrolitiasis. Min Electrolyte Metab 11: 19-24, 1985
34. Pacifici R, Rothstein M, Rifas L, Lau KW, Baylink DJ, Aviolo L, Hruska K: Increased monocyte interleukin-1 activity and decreased vertebral bone density in patients with fasting idiopathic hypercalciuria. J Clin Endocrinol Metab 71: 138-145, 1990
35. Perry HM, Fallon MD, Bergfeld M, Tietelbaum SL, Avioli LV: Osteoporosis in young men: A syndrome of hypercalciuria and accelerated bone turnover. Arch Inter Med 142: 1295-1298, 1982
36. Tsukamoto K, Orimo H, Hosoi T, Miyao M, Ota N, Nakajima T, Yoshida H, Watanabe S, Suzuki T, Emi M: Association of bone mineral density with polymorphism of the human calcium-sensing receptor locus. Calcif Tissue Int 66: 181-183, 2000