A family with autosomal dominant hypocalcaemia with hypercalciuria (ADHH): Mutational analysis, phenotypic variability and treatment challenges

Journal of Pediatric Endocrinology and Metabolism

Volumn 18, Issue 7, 2005, Pages 689-699

  Burren, Christine P ^a   Curley, A ^b   Christie, P ^b   Rodda, C P ^c   Thakker, R V ^b  

^a BRISTOL ROYAL HOSPITAL FOR CHILDREN   (United Kingdom)

^b UNIVERSITY OF OXFORD   (United Kingdom)

^c MONASH UNIVERSITY   (Australia)

Author keywords

ADHH; Hypercalciuria; Hypocalcaemia

Indexed keywords

CALCITRIOL; CALCIUM; CALCIUM CHANNEL BLOCKING AGENT; CALCIUM ION; CALCIUM SENSING RECEPTOR; HYDROCHLOROTHIAZIDE; PARATHYROID HORMONE;

ABDOMINAL PAIN; ADULT; ARTICLE; AUTOSOMAL DOMINANT HYPOCALCEMIA WITH HYPOCALCIURIA; BASAL GANGLION; BRAIN CALCIFICATION; CLINICAL ARTICLE; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; DISEASE SEVERITY; DNA SEQUENCE; FEMALE; GENE MUTATION; GENETIC VARIABILITY; HUMAN; HYPOCALCEMIA; HYPOCALCIURIA; HYPOMAGNESEMIA; KIDNEY CALCIFICATION; MALE; PARESTHESIA; PEDIGREE ANALYSIS; PHENOTYPE; RECEPTOR GENE; SCHOOL CHILD; SEIZURE; SYNDROME;

EID: 23644453809     PISSN: 0334018X     EISSN: None     Source Type: Journal    
DOI: 10.1515/JPEM.2005.18.7.689     Document Type: Article

References (39)

1. Granstrom KO, Hed R. Idiopathic hypoparathyroidism with cataract and spontaneous hypocalcaemic hypercalciuria. Acta Med Scand 1965; 178: 417-421.
2. 2+-sensing receptor gene mutation. Nat Genet 1994; 8: 303-307.
3. 2+-sensing receptor from parathyroid and kidney: new insights into the physiology and pathophysiology of calcium metabolism [Editorial]. Nephrol Dial Transplant 1994; 9: 1703-1706.
4. Chattopadhyay N, Legradi G, Bai M, Kifor O, Ye C, Vassilev PM, Brown EM, Lechan RM. Calcium-sensing receptor in the rat hippocampus: a developmental study. Brain Res Dev Brain Res 1997; 100: 13-21.
5. Chattopadhyay N, Ye C, Singh DP, Kifor O, Vassilev PM, Shinohara T, Chylack LT Jr, Brown EM. Expression of extracellular calcium-sensing receptor by human lens epithelia] cells Biochem Biophys Res Commun 1997; 233: 801-805. [Published erratum appears in Biochem Biophys Res Commun 1997; 237: 481.]
6. Cima RR, Cheng I, Klingensmith ME, Chattopadhyay N, Kifor O, Hebert SC, Brown EM, Soybel DI. Identification and functional assay of an extracellular calcium-sensing receptor in Necturus gastric mucosa. Am J Physiol 1997; 273: G1051-G1060.
7. Chou YH, Brown EM, Levi T, Crowe G, Atkinson AB, Arnqvist HJ, Toss G, Fuleihan GE, Seidman JG, Seidman CE. The gene responsible for familial hypocalciuric hypercalcemia maps to chromosome 3q in four unrelated families. Nat Genet 1992; 1: 295-300.
8. Janicic N, Soliman E, Pausova Z, Seldin MF, Riviere M, Szpirer J, Szpirer C, Hendy GN. Mapping of the calcium-sensing receptor gene (CASR) to human chromosome 3q13.3-21 by fluorescence in situ hybridization, and localization to rat chromosome 11 and mouse chromosome 16. Mamm Genome 1995; 6: 798-801.
9. Pollak MR, Chou YH, Marx SJ, Steinmann B, Cole DE, Brandi ML, Papapoulos SE, Menko FH, Hendy GN, Brown EM, et al. Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Effects of mutant gene dosage on phenotype. J Clin Invest 1994; 93: 1108-1112.
10. 2+-sensing receptors from parathyroid and kidney. Bone 1995; 17 (Suppl 2): 7S-11S.
11. Brown EM, Pollak M, Seidman CE, Seidman JG, Chou YH, Riccardi D, Hebert SC. Calcium-ion-sensing cell-surface receptors. N Engl J Med 1995; 333: 234-240.
12. Ho C, Conner DA, Pollak MR, Ladd DJ, Kifor O, Warren HB, Brown EM, Seidman JG, Seidman CE. A mouse model of human familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism [see Comments]. Nat Genet 1995; 11: 389-394.
13. 2+-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism [see Comments]. Cell 1993; 75: 1297-1303.
14. 2+-sensing-receptor gene that cause familial hypocalciuric hypercalcemia. Am J Hum Genet 1995; 56: 1075-1079.
15. Pearce SH, Trump D, Wooding C, Besser GM, Chew SL, Grant DB, Heath DA, Hughes IA, Paterson CR, Whyte MP, et al. Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism. J Clin Invest 1995; 96: 2683-2692.
16. Conley YP, Finegold DN, Peters DG, Cook JS, Oppenheim DS, Ferrell RE. Three novel activating mutations in the calcium-sensing receptor responsible for autosomal dominant hypocalcemia. Mol Genet Metab 2000; 71: 591-598.
17. Okazaki R, Chikatsu N, Nakatsu M, Takeuchi Y, Ajima M, Miki J, Fujita T, Arai M, Totsuka Y, Tanaka K, Fukumoto S. A novel activating mutation in calcium-sensing receptor gene associated with a family of autosomal dominant hypocalcemia. J Clin Endocrinol Metab 1999; 84: 363-366.
18. 2+-sensing receptor. J Biol Chem 1996; 271: 19537-19545.
19. 2+-sensing receptor gene cause autosomal dominant and sporadic hypoparathyroidism. Hum Mol Genet 1996; 5: 601-606.
20. 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. A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor [see Comments]. N Engl J Med 1996; 335: 1115-1122.
21. Thakker RV, Bouloux P, Wooding C, Chotai K, Broad PM, Spurr NK, Besser GM, O'Riordan JL. Association of parathyroid tumors in multiple endocrine neoplasia type 1 with loss of alleles on chromosome 11. N Engl J Med 1989; 321: 218-224.
22. Watanabe T, Bai M, Lane CR, Matsumoto S, Minamitani K, Minagawa M, Niimi H, Brown EM, Yasuda T. Familial hypoparathyroidism: identification of a novel gain of function mutation in transmembrane domain 5 of the calcium-sensing receptor. J Clin Endocrinol Metab 1998; 83: 2497-2502.
23. Abusrewil SS, Tyfield L, Savage DC. Serum thyroxine and thyroid stimulating hormone concentrations after treatment of congenital hypothyroidism. Arch Dis Child 1988; 63: 1368-1371.
24. Chattopadhyay N, Vassilev PM, Brown EM. Calcium-sensing receptor: roles in and beyond systemic calcium homeostasis. Biol Chem 1997; 378: 759-768.
25. Pearce SH, Thakker RV. The calcium-sensing receptor: insights into extracellular calcium homeostasis in health and disease. J Endocrinol 1997; 154: 371-378.
26. 2+-sensing receptor in divalent mineral ion homeostasis. J Exp Biol 1997; 200: 295-302.
27. 2+-sensing receptor. Mol Genet Metab 1998; 64: 198-204.
28. 2+ and maximal signal transduction. Pediatr Res 1997; 42: 443-447.
29. Rogers KV, Dunn CK, Hebert SC, Brown EM. Localization of calcium receptor mRNA in the adult rat central nervous system by in situ hybridization. Brain Res 1997; 744: 47-56.
30. Khan MM, Logan KR, McComb JM, Adgey AA. Management of recurrent ventricular tachyarrhythmias associated with Q-T prolongation. Am J Cardiol 1981; 47: 1301-1308.
31. Janeira LF. Torsades de pointes and long QT syndromes. Am Fam Physician 1995; 52: 1447-1453.
32. Sato K, Hasegawa Y, Nakae J, Nanao K, Takahashi I, Tajima T, Shinohara N, Fujieda K. 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 2002; 87: 3068-3073.
33. Pearce SH, Bai M, Quinn SJ, Kifor O, Brown EM, Thakker RV. Functional characterization of calcium-sensing receptor mutations expressed in human embryonic kidney cells. J Clin Invest 1996; 98: 1860-1866.
34. Jensen AA, Spalding TA, Burstein ES, Sheppard PO, O'Hara PJ, Brann MR, Krogsgaard-Larsen P, Brauner-Osborne H. Functional importance of the Ala(116)-Pro(136) region in the calcium-sensing receptor. Constitutive activity and inverse agonism in a family C G-protein-coupled receptor. J Biol Chem 2000; 275: 29547-29555.
35. Ward DT, Brown EM, Harris HW. Disulfide bonds in the extracellular calcium-polyvalent cation-sensing receptor correlate with dimer formation and its response to divalent cations in vitro. J Biol Chem 1998; 273: 14476-14483.
36. Bai M, Trivedi S, Brown EM. Dimerization of the extracellular calcium-sensing receptor (CaR) on the cell surface of CaR-transfected HEK293 cells. J Biol Chem 1998; 273: 23605-23610.
37. Pace AJ, Gama L, Breitwieser GE. Dimerization of the calcium-sensing receptor occurs within the extracellular domain and is eliminated by Cys→Ser mutations at Cys101 and Cys236. J Biol Chem 1999; 274: 11629-11634.
38. 2+ receptor. J Biol Chem 1999; 274: 27642-27650.
39. Zhang Z, Sun S, Quinn SJ, Brown EM, Bai M. The extracellular calcium-sensing receptor dimerizes through multiple types of intermolecular interactions. J Biol Chem 2001; 276: 5316-5322.