Marked hypercalcemia in a patient with hypocalciuric hypercalcemia without a mutation in the calcium-sensing receptor gene

Internal Medicine

Volumn 41, Issue 12, 2002, Pages 1153-1157

  Hanibuchi, Noriyuki ^a   Maruyama, Takao ^a   Menju, Masakazu ^a   Toyoshima, Hiroyuki ^a   Yamamoto, Takehisa ^a   Fukumoto, Seiji ^b   Konishi, Ichiro ^a  

^a Minoh City Hospital   (Japan)

^b UNIVERSITY OF TOKYO HOSPITAL   (Japan)

Author keywords

Calcium to creatinine clearance; Calcium sensing receptor; Familial hypocalciuric hypercalcemia

Indexed keywords

CALCIUM; CALCIUM SENSING RECEPTOR; CREATININE; ELCATONIN; GENOMIC DNA; METHOXY ISOBUTYL ISONITRILE TECHNETIUM TC 99M; PAMIDRONIC ACID; PARATHYROID HORMONE; SODIUM CHLORIDE;

ADULT; ARTICLE; BONE RADIOGRAPHY; CALCIUM BLOOD LEVEL; CASE REPORT; CONTROLLED STUDY; CREATININE CLEARANCE; FAMILIAL DISEASE; GENE MUTATION; GENETIC ANALYSIS; HOSPITAL ADMISSION; HUMAN; HYPERCALCEMIA; KIDNEY CLEARANCE; LABORATORY TEST; MALE; PARATHYROID HORMONE BLOOD LEVEL; PARATHYROID SCINTISCANNING; POLYMERASE CHAIN REACTION; SYMPTOMATOLOGY;

EID: 0036969967     PISSN: 09182918     EISSN: None     Source Type: Journal    
DOI: 10.2169/internalmedicine.41.1153     Document Type: Article

References (22)

1. Richard B, Marie BD, Henry MK. Hormones and disorders of mineral metabolism. in: Williams Textbook of Endocrinology, 9th ed. Wilson JD, Foster DW, Kronenberg HM, et al, Eds. WB Saunders, Philadelphia, 1998: 1155-1210.
2. Marx SJ. Familial hypocalciuric hypercalcemia. in: Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism, 4th ed. Favus MJ, Ed. Lippincott-Raven, Philadelphia, 1999: 195-198.
3. Marx SJ, Spiegel AM, Brown EM, et al. Divalent cation metabolism: familial hypocalciuric hypercalcemia versus typical primary hyperparathyroidism. Am J Med 65: 235-242, 1978.
4. Marx SJ, Attie MF, Stock JL, Spiegel AM, Levine MA. Maximal urine-concentrating ability: Familial hypocalciuric hypercalcemia versus typical primary hyperparathyroidism. J Clin Endocrinol Metab 52: 736-740, 1981.
5. 2+-sensing receptor from bovine parathyroid. Nature 366: 575-580, 1993.
6. Garrett JE, Capuano IV, Hammerland LG, et al. Molecular cloning and functional expression of human parathyroid calcium receptor cDNAs. J Biol Chem 270: 12919-12925, 1995.
7. 2+-sensing receptor. in: Contemporary Endocrinology: Hormone Resistance Syndromes. Jameson L, Ed. Humana Press, Totowa, 1999: 87.
8. Chikatsu N, Fukumoto S, Suzawa M, et al. An adult patient with severe hypercalcaemia and hypocalciuria due to a novel homozygous inactivating mutation of calcium-sensing receptor. Clin Endocrinol (Oxf) 50: 537-543, 1999.
9. Chikatsu N, Fukumoto S, Takeuchi Y, et al. Cloning and characterization of two promoters for the human calcium-sensing receptor (CaSR) and changes of CaSR expression in parathyroid adenomas. J Biol Chem 275: 7553-7557, 2000.
10. Law WM Jr, Heath H III. Familial benign hypercalcemia (hypocalciuric hypercalcemia): Clinical and pathogenetic studies in 21 families. Ann Intern Med 102: 511-519, 1985.
11. Brown EM, Pollak M, Seidman CE, et al. Calcium-ion-sensing cell-surface receptors. N Engl J Med 333: 234-240, 1995.
12. Janicic N, Soliman E, Pausova Z, et al. Mapping of the calcium-sensing receptor (CASR) to human chromosome 3q13.3-21 by fluorescence in situ hybridization, and localization of rat chromosome 11 and mouse chromosome 16. Mamm Genome 6: 798-801, 1995.
13. Kanazawa H, Tanaka H, Kodama S, Moriwake A, Kobayashi M, Seino Y. The effect of calcium-sensing receptor gene polymorphisms on serum calcium levels: A familial hypocalciuric hypercalcemia family without mutation in the calcium-sensing receptor gene. Endocr J 47: 29-35, 2000.
14. Clapham DE. Mutations in G protein-linked receptors: Novel insights on disease. Cell 75: 1237-1239, 1993 (comment).
15. 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 64: 189-195, 1999.
16. Chou YH, Brown EM, Levi T, et al. The gene responsible for familial hypocalciuric hypercalcemia maps to chromosome 3q in four unrelated families. Nat Genet 1: 295-300, 1992.
17. Heath H III, Leppert MF, Lifton RP, Penniston JT, Heath H. Genetic linkage analysis in familial benign hypercalcemia using a candidate gene strategy. J Clin Endocrinol Metab 75: 846-851, 1992.
18. Feldman RS, Krieger NS, Tashjian AH. Effects of parathyroid hormone and calcitonin on osteoclast formation in vitro. Endocrinology 107:1137-1143, 1980.
19. Sato M, Grasser W, Endo N, et al. Bisphosphonate action. Alendronate localization in rat bone and effects on osteoclast ultrastructure. J Clin Invest 88: 2095-2105, 1991.
20. Hosking DJ, Gilson D. Comparison of the renal and skeletal actions of calcitonin in the treatment of severe hypercalcemia of malignancy. Q J Med 53: 359-368, 1984.
21. Sato K, Hattori M, Tomita A, et al. Comparative clinical study of alendronate with eel calcitonin in hypercalcema of malignancy. Rinsho-Iyaku 10: 2667-2689, 1994 (in Japanese, Abstract in English).
22. Marx SJ, Stock JL, Attie MF, et al. Famlial hypocalciuric hypercalcemia: Recognition among patients referred after unsuccessful parathyroid exploration. Ann Intern Med 92: 351-356, 1980.