A case of gain-of-function mutation in calcium-sensing receptor: Supplemental hydration is required for renal protection

Clinical Nephrology

Volumn 63, Issue 6, 2005, Pages 481-486

  Suzuki, M ^a   Aso, T ^b   Sato, T ^c   Michimata, M ^a   Kazama, I ^a   Saiki, H ^d   Hatano, R ^a   Ejima, Y ^e   Miyama, N ^e   Sato, A ^e   Matsubara, M ^a  

^a TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b YOKOSUKA KYOSAI HOSPITAL   (Japan)

^c Hakujikai Memorial Hospital   (Japan)

^d SEKISUI CHEMICAL CO LTD   (Japan)

^e TOHOKU UNIVERSITY HOSPITAL   (Japan)

Author keywords

Hypoparathyroidism; Renal calcification; Thiazide; Urinary concentration

Indexed keywords

CALCIUM; CALCIUM SENSING RECEPTOR; CYSTEINE; HYDROCHLOROTHIAZIDE; PARATHYROID HORMONE; PHENYLALANINE; THIAZIDE DIURETIC AGENT;

AMINO ACID SUBSTITUTION; ARTICLE; ASIAN; CALCIUM ABSORPTION; CALCIUM EXCRETION; CALCIUM URINE LEVEL; CASE REPORT; DNA SEQUENCE; EXON; EXTRACELLULAR CALCIUM; FEMALE; FOLLOW UP; GENE MUTATION; HETEROZYGOSITY; HUMAN; HYPERCALCIURIA; HYPOCALCEMIA; HYPOPARATHYROIDISM; KIDNEY CALCIFICATION; KIDNEY TUBULE ABSORPTION; PARATHYROID HORMONE RELEASE; PROTEIN DOMAIN; REHYDRATION; RENAL PROTECTION; SCHOOL CHILD;

EID: 21044449026     PISSN: 03010430     EISSN: None     Source Type: Journal    
DOI: 10.5414/CNP63481     Document Type: Article

References (28)

1. 2+ and other ions as extracellular (first) messengers. Physiol Rev 71: 371-411
2. 2+-sensing receptor from bovine parathyroid. Nature 366: 575-580
3. 2+ on renal function? J Am Soc Nephrol 6: 1530-1540
4. Carling T, Szabo E, Bai M, Ridefelt P, Westin G, Gustavsson P, Trivedi S, Hellman P, Brown EM, Dahl N, Rastad J 2000 Familial hypercalcemia and hypercalciuria caused by a novel mutation in the cytoplasmic tail of the calcium receptor. J Clin Endocrinol Metab 85: 2042-2047
5. Chikatsu N, Watanabe S, Takeuchi Y, Muraosa Y, Sasaki S, Oka Y, Fukumoto S, Fujita T 2003 A family of autosomal-dominant hypocalcemia with an activating mutation of calcium-sensing receptor gene. Endocrinol J 50: 91-96
6. 2+-sensing receptor. J Clin Endocrinol Metab 82: 2710-2715
7. 2+ receptor: effects on cell surface expression, dimerization and signal transduction. FEBS Lett 436: 353-356
8. Garrett JE, Capuano IV, Hammerland LG, Hung BC, Brown EM, Hebert SC, Nemeth EF, Fuller F 1995 Molecular cloning and functional expression of human parathyroid calcium receptor cDNAs. J Biol Chem 270: 12919-12925
9. 2+-sensing receptor in divalent mineral ion homeostasis. J Exp Biol 200: 295-302
10. Hendy GN, D'Souza-Li L, Yang B, Canaff L, Cole DE 2000 Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal-dominant hypocalcemia. Hum Mutat 16: 281-296
11. Hendy GN, Minutti C, Canaff L, Pidasheva S, Yang B, Nouhi Z, Zimmerman D, Wei C, Cole DE 2003 Recurrent familial hypocalcemia due to germline mosaicism for an activating mutation of the calcium-sensing receptor gene. J Clin Endocrinol Metab 88: 3674-3681
12. Hirai H, Nakajima S, Miyauchi A, Nishimura K, Shimizu N, Shima M, Michigami T, Ozono K, Okada S 2001 A novel activating mutation (C129S) in the calcium-sensing receptor gene in a Japanese family with autosomal-dominant hypocalcemia. J Hum Genet 46: 41-44
13. Hu J, Mora S, Colussi G, Proverbio MC, Jones KA, Bolzoni L, De Ferrari ME, Civati G, Spiegel AM 2002 Autosomal-dominant hypocalcemia caused by a novel mutation in the loop 2 region of the human calcium receptor extracellular domain. J Bone Miner Res 17: 1461-1469
14. Kurzel RB, Hagen GA 1990 Use of thiazide diuretics to reduce the hypercalciuria of hypoparathyroidism during pregnancy. Am J Perinatol 7: 333-336
15. Lienhardt A, Garabedian M, Bai M, Sinding C, Zhang Z, Lagarde JP, Boulesteix J, Rigaud M, Brown EM, Kottler ML 2000 A large homozygous or heterozygous in-frame deletion within the calcium-sensing receptor's carboxyl-terminal cytoplasmic tail that causes autosomal-dominant hypocalcemia. J Clin Endocrinol Metab 85: 1695-1702
16. 2+-sensing receptor. Mol Gen Metab 64: 198-204
17. Nagase T, Murakami T, Tsukada T, Kitamura R, Chikatsu N, Takeo H, Takata N, Yasuda H, Fukumoto S, Tanaka Y, Nagata N, Yamaguchi K, Akatsu T, Yamamoto M 2002 A family of autosomal-dominant hypocalcemia with a positive correlation between serum calcium and magnesium: identification of a novel gain of function mutation (Ser(820)Phe) in the calcium-sensing receptor. J Clin Endocrinol Metab 87: 2681-2687
18. Pearce SH, Wooding C, Davies M, Tollefsen SE, Whyte MP, Thakker RV 1996 Calcium-sensing receptor mutations in familial hypocalciuric hypercalcaemia with recurrent pancreatitis. Clin Endocrinol (Oxf) 45: 675-680
19. Pearce SH, Williamson C, Kifor O, Bai M, Coulthard MG, Davies M, Lewis-Barned N, McCredie D, Powell H, Kendall-Taylor P, Brown EM, Thakker RV 1996 A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor. N Engl J Med 335: 1115-1122
20. 2+ receptor. J Biol Chem 274: 27642-27650
21. Riccardi D, Park J, Lee WS, Gamba G, Brown EM, Hebert SC 1995 Cloning and functional expression of a rat kidney extracellular calcium/polyvalent cation-sensing receptor. Proc Natl Acad Sci USA 92: 131-135
22. 2+ /polyvalent cation-sensing protein in rat kidney. Am J Physiol 274: F611-622
23. Sands JM, Naruse M, Baum M, Jo I, Hebert SC, Brown EM, Harris HW 1997 Apical extracellular calcium/polyvalent cation-sensing receptor regulates vasopressin-elicited water permeability in rat kidney inner medullary collecting duct. J Clin Invest 99: 1399-1405
24. 3). Action of hydrochlorothiazide. Am J Dis Child 140: 139-142
25. Sato K, Hasegawa Y, Nakae J, Nanao K, Takahashi I, Tajima T, Shinohara N, Fujieda K 2002 Hydrochlorothiazide effectively reduces urinary calcium excretion in two Japanese patients with gain-of-function mutations of the calcium-sensing receptor gene. J Clin Endocrinol Metab 87: 3068-3073
26. Shiohara M, Mori T, Mei B, Brown EM, Watanabe T, Yasuda T 2004 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 163: 94-98
27. Thakker RV 1998 Disorders of the calcium-sensing receptor. Biochim Biophys Acta 1448: 166-170
28. Watanabe S, Fukumoto S, Chang H, Takeuchi Y, Hasegawa Y, Okazaki R, Chikatsu N, Fujita T 2002 Association between activating mutations of calcium-sensing receptor and Bartter's syndrome. Lancet 360: 692-694