Hypercalcemia in children and adolescents

Current Opinion in Pediatrics

Volumn 22, Issue 4, 2010, Pages 508-515

  Lietman, Steven A ^a   Germain Lee, Emily L ^b   Levine, Michael A ^c  

^a LERNER RESEARCH INSTITUTE   (United States)

^b JOHNS HOPKINS UNIVERSITY   (United States)

^c UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

bisphosphonates; hypercalcemia; hyperparathyroidism; pediatrics

Indexed keywords

ALENDRONIC ACID; CALCITONIN; CALCITRIOL; CALCIUM; FUROSEMIDE; IBANDRONIC ACID; PAMIDRONIC ACID; PARATHYROID HORMONE; POTASSIUM CHLORIDE; RISEDRONIC ACID; ZOLEDRONIC ACID; BONE DENSITY CONSERVATION AGENT; CALCIUM SENSING RECEPTOR; CASR PROTEIN, HUMAN;

AUTOSOMAL DOMINANT DISORDER; BARTTER SYNDROME; BONE TURNOVER; CALCIUM EXCRETION; CLINICAL FEATURE; DEHYDRATION; DIFFERENTIAL DIAGNOSIS; FAILURE TO THRIVE; FAMILIAL HYPOCALCIURIC HYPERCALCEMIA; GENE MUTATION; GLOMERULUS FILTRATION RATE; GROUPS BY AGE; HUMAN; HYPERCALCEMIA; HYPOPARATHYROIDISM; HYPOPHOSPHATEMIA; IMMOBILIZATION; INBORN ERROR OF METABOLISM; KIDNEY TUBULE ACIDOSIS; OSTEOCLAST; OSTEOLYSIS; PEDIATRICIAN; PRIMARY HYPERPARATHYROIDISM; PRIORITY JOURNAL; PSEUDOHYPOPARATHYROIDISM; REVIEW; THYROID SURGERY; URINARY EXCRETION; VITAMIN D DEFICIENCY; VITAMIN D INTOXICATION; WILLIAMS BEUREN SYNDROME; ADOLESCENT; BLOOD; CALCIUM SIGNALING; CHILD; GENETIC PREDISPOSITION; GENETICS; METABOLISM; MUTATION; PARATHYROIDECTOMY; PROGNOSIS; URINE;

ADOLESCENT; BONE DENSITY CONSERVATION AGENTS; CALCITONIN; CALCIUM; CALCIUM SIGNALING; CHILD; GENETIC PREDISPOSITION TO DISEASE; HUMANS; HYPERCALCEMIA; MUTATION; PARATHYROIDECTOMY; PROGNOSIS; RECEPTORS, CALCIUM-SENSING;

EID: 77955228391     PISSN: 10408703     EISSN: None     Source Type: Journal    
DOI: 10.1097/MOP.0b013e32833b7c23     Document Type: Review

References (67)

1. Lean JM, Matsuo K, Fox SW, et al. Osteoclast lineage commitment of bone marrow precursors through expression of membrane-bound TRANCE. Bone 2000; 27:29-40.
2. Fuller K, Wong B, Fox S, et al. TRANCE is necessary and sufficient for osteoblast-mediated activation of bone resorption in osteoclasts. J Exp Med 1998; 188:997-1001.
3. Portale AA. Blood calcium, phosphorus, and magnesium. In: Favus MJ, editor. Primer on the metabolic bone diseases and disorders of mineral metabolism. 4th ed. Philadelphia, USA: Lippincott, Williams, and Wilkins; 1999. p. 116.
4. Nishiyama S. Hypercalcemia in children: an overview. Acta Paediatr Jpn 1997; 39:479-484.
5. Rodd C, Goodyer P. Hypercalcemia of the newborn: etiology, evaluation, and management. Pediatr Nephrol 1999; 13:542-547.
6. Hasler U, Leroy V, Martin PY, Feraille E. Aquaporin-2 abundance in the renal collecting duct: new insights from cultured cell models. Am J Physiol Renal Physiol 2009; 297:F10-F18.
7. Procino G, Mastrofrancesco L, Mira A, et al. Aquaporin 2 and apical calciumsensing receptor: new players in polyuric disorders associated with hypercalciuria. Semin Nephrol 2008; 28:297-305.
8. Kimura S, Nose O, Harada T, et al. Serum levels of vitamin D metabolites in children receiving total parenteral nutrition. J Parenter Enteral Nutr 1986; 10:191-194.
9. Kimura S, Nose O, Seino Y, et al. Effects of alternate and simultaneous administrations of calcium and phosphorus on calcium metabolism in children receiving total parenteral nutrition. J Parenter Enteral Nutr 1986; 10:513-516.
10. Hak EB, Crill CM, Bugnitz MC, et al. Increased parathyroid hormone and decreased calcitriol during neonatal extracorporeal membrane oxygenation. Intensive Care Med 2005; 31:264-270.
11. Damiani D, Aguiar CH, Bueno VS, et al. Primary hyperparathyroidism in children: patient report and review of the literature. J Pediatr Endocrinol Metab 1998; 11:83-86.
12. Cole D, Forsythe CR, Dooley JM, et al. Primary neonatal hyperparathyroidism: a devastating neurodevelopmental disorder if left untreated. J Craniofac Genet Dev Biol 1990; 10:205-214.
13. Demirel N, Aydin M, Zenciroglu A, et al. Hyperparathyroidism secondary to maternal hypoparathyroidism and vitamin D deficiency: an uncommon cause of neonatal respiratory distress. Ann Trop Paediatr 2009; 29:149-154.
14. Glass EJ, Barr DG. Transient neonatal hyperparathyroidism secondary to maternal pseudohypoparathyroidism. Arch Dis Child 1981; 56:565-568.
15. Savani RC, Mimouni F, Tsang RC. Maternal and neonatal hyperparathyroidism as a consequence of maternal renal tubular acidosis. Pediatrics 1993; 91:661-663.
16. Loughead JL, Mughal Z, Mimouni F, et al. Spectrum and natural history of congenital hyperparathyroidism secondary to maternal hypocalcemia. Am J Perinatol 1990; 7:350-355.
17. Cole DE, Janicic N, Salisbury SR, Hendy GN. Neonatal severe hyperparathyroidism, secondary hyperparathyroidism, and familial hypocalciuric hypercalcemia: multiple different phenotypes associated with an inactivating Alu insertion mutation of the calcium-sensing receptor gene. Am J Med Genet 1997; 71:202-210.
18. Chou YH, Pollak MR, Brandi ML, et al. Mutations in the human Ca(2')-sensing-receptor gene that cause familial hypocalciuric hypercalcemia. Am J Hum Genet 1995; 56:1075-1079.
19. Pollak MR, Brown EM, Chou YH, et al. Mutations in the human Ca(2')-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Cell 1993; 75:1297-1303.
20. Powell BR, Blank E, Benda G, Buist NR. Neonatal hyperparathyroidism and skeletal demineralization in an infant with familial hypocalciuric hypercalcemia. Pediatrics 1993; 91:144-145.
21. Pearce SH, Trump D, Wooding C, et al. Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism. J Clin Invest 1995; 96:2683-2692.
22. 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.
23. Obermannova B, Banghova K, Sumnik Z, et al. Unusually severe phenotype of neonatal primary hyperparathyroidism due to a heterozygous inactivating mutation in the CASR gene. Eur J Pediatr 2009; 168:569-573.
24. Chang W, Tu C, Chen TH, et al. The extracellular calcium-sensing receptor (CaSR) is a critical modulator of skeletal development. Sci Signal 2008; 1:1-13.
25. Waller S, Kurzawinski T, Spitz L, et al. Neonatal severe hyperparathyroidism: genotype/phenotype correlation and the use of pamidronate as rescue therapy. Eur J Pediatr 2004; 163:589-594.
26. Peacock M, Bolognese MA, Borofsky M, et al. Cinacalcet treatment of primary hyperparathyroidism: biochemical and bone densitometric outcomes in a fiveyear study. J Clin Endocrinol Metab 2009; 94:4860-4867.
27. Henrich LM, Rogol AD, D'Amour P, et al. Persistent hypercalcemia after parathyroidectomy in an adolescent and effect of treatment with cinacalcet HCl. Clin Chem 2006; 52:2286-2293.
28. Lu JY, Yang Y, Gnacadja G, et al. Effect of the calcimimetic R-568 [3-(2-chlorophenyl)-N-((1R)-1-(3-methoxyphenyl)ethyl)-1-propanamine] on correcting inactivating mutations in the human calcium-sensing receptor. J Pharmacol Exp Ther 2009; 331:775-786.
29. Rus R, Haag C, Bumke-Vogt C, et al. Novel inactivating mutations of the calcium-sensing receptor: the calcimimetic NPS R-568 improves signal transduction of mutant receptors. J Clin Endocrinol Metab 2008; 93:4797-4803.
30. Timmers HJ, Karperien M, Hamdy NA, et al. Normalization of serum calcium by cinacalcet in a patient with hypercalcaemia due to a de novo inactivating mutation of the calcium-sensing receptor. J Intern Med 2006; 260:177-182.
31. Lietman SA, Tenenbaum-Rakover Y, Jap TS, et al. A novel loss-of-function mutation, Gln459Arg, of the calcium-sensing receptor gene associated with apparent autosomal recessive inheritance of familial hypocalciuric hypercalcemia. J Clin Endocrinol Metab 2009; 94:4372-4379.
32. Nesbit MA, Hannan FM, Graham U, et al. Identification of a second kindred with familial hypocalciuric hypercalcemia type 3 (FHH3) narrows localization to a <3.5 megabase pair region on chromosome 19q13.3. J Clin Endocrinol Metab 2010; 95:1947-1954.
33. Lloyd SE, Pannett AA, Dixon PH, et al. Localization of familial benign hypercalcemia, Oklahoma variant (FBHOk), to chromosome 19q13. Am J Hum Genet 1999; 64:189-195.
34. Heath H 3rd, Jackson CE, Otterud B, Leppert MF. Genetic linkage analysis in familial benign (hypocalciuric) hypercalcemia: evidence for locus heterogeneity. Am J Hum Genet 1993; 53:193-200.
35. Burden AD, Krafchik BR. Subcutaneous fat necrosis of the newborn: a review of 11 cases. Pediatr Dermatol 1999; 16:384-387.
36. Finne PH, Sanderud J, Aksnes L, et al. Hypercalcemia with increased and unregulated 1,25-dihydroxyvitamin D production in a neonate with subcutaneous fat necrosis. J Pediatr 1988; 112:792-794.
37. Hicks MJ, Levy ML, Alexander J, Flaitz CM. Subcutaneous fat necrosis of the newborn and hypercalcemia: case report and review of the literature. Pediatr Dermatol 1993; 10:271-276.
38. Cagle AP, Waguespack SG, Buckingham BA, et al. Severe infantile hypercalcemia associated with Williams syndrome successfully treated with intravenously administered pamidronate. Pediatrics 2004; 114:1091-1095.
39. Kato S, Fujiki R, Kim MS, Kitagawa H. Ligand-induced transrepressive function of VDR requires a chromatin remodeling complex, WINAC. J Steroid Biochem Mol Biol 2007; 103:372-380.
40. Kitagawa H, Fujiki R, Yoshimura K, et al. The chromatin-remodeling complex WINAC targets a nuclear receptor to promoters and is impaired in Williams syndrome. Cell 2003; 113:905-917.
41. Fedde KN, Blair L, Silverstein J, et al. Alkaline phosphatase knock-out mice recapitulate the metabolic and skeletal defects of infantile hypophosphatasia. J Bone Miner Res 1999; 14:2015-2026.
42. Mochizuki H, Saito M, Michigami T, et al. Severe hypercalcaemia and respiratory insufficiency associated with infantile hypophosphatasia caused by two novel mutations of the tissue-nonspecific alkaline phosphatase gene. Eur J Pediatr 2000; 159:375-379.
43. Whyte MP, Magill HL, Fallon MD, Herrod HG. Infantile hypophosphatasia: normalization of circulating bone alkaline phosphatase activity followed by skeletal remineralization. Evidence for an intact structural gene for tissue nonspecific alkaline phosphatase. J Pediatr 1986; 108:82-88.
44. Teree TM, Klein LR. Hypophosphatasia: clinical and metabolic studies. J Pediatr 1968; 72:41-50.
45. Tadokoro M, Kanai R, Taketani T, et al. New bone formation by allogeneic mesenchymal stem cell transplantation in a patient with perinatal hypophosphatasia. J Pediatr 2009; 154:924-930.
46. Millan JL, Narisawa S, Lemire I, et al. Enzyme replacement therapy for murine hypophosphatasia. J Bone Miner Res 2008; 23:777-787.
47. Drummond KN, Michael AF, Ulstrom RA, Good RA. The blue diaper syndrome: familial hypercalcemia with nephrocalcinosis and indicanuria; a new familial disease, with definition of the metabolic abnormality. Am J Med 1964; 37:928-948.
48. Saarela T, Simila S, Koivisto M. Hypercalcemia and nephrocalcinosis in patients with congenital lactase deficiency. J Pediatr 1995; 127:920-923.
49. Belmont JW, Reid B, Taylor W, et al. Congenital sucrase-isomaltase deficiency presenting with failure to thrive, hypercalcemia, and nephrocalcinosis. BMC Pediatr 2002; 2:4.
50. Shoemaker L, Welch TR, Bergstrom W, et al. Calcium kinetics in the hyperprostaglandin E syndrome. Pediatr Res 1993; 33:92-96.
51. Amirlak I, Dawson KP. Bartter syndrome: an overview. QJM 2000; 93:207-215.
52. Bettinelli A, Ciarmatori S, Cesareo L, et al. Phenotypic variability in Bartter syndrome type I. Pediatr Nephrol 2000; 14:940-945.
53. Vilain E, Le Merrer M, Lecointre C, et al. IMAGe, a new clinical association of intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies. J Clin Endocrinol Metab 1999; 84:4335-4340.
54. Kelly A, Levine MA. Disorders of calcium, phosphate, parathyroid hormone and vitamin D. In: Kappy MS, Allen DB, Geffner ME, editors. Pediatric practice: endocrinology. Springfield, Massachusetts, USA: Charles C. Thomas Publisher, Ltd.; 2009. pp. 191-256.
55. Kollars J, Zarroug AE, van Heerden J, et al. Primary hyperparathyroidism in pediatric patients. Pediatrics 2005; 115:974-980.
56. Stalberg P, Carling T. Familial parathyroid tumors: diagnosis and management. World J Surg 2009; 33:2234-2243.
57. Carpten JD, Robbins CM, Villablanca A, et al. HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome. Nat Genet 2002; 32:676-680.
58. Shattuck TM, Valimaki S, Obara T, et al. Somatic and germ-line mutations of the HRPT2 gene in sporadic parathyroid carcinoma. N Engl J Med 2003; 349:1722-1729.
59. Bosch X. Hypercalcemia due to endogenous overproduction of active vitamin D in identical twins with cat-scratch disease. JAMA 1998; 279:532-534.
60. Monkawa T, Yoshida T, Hayashi M, Saruta T. Identification of 25-hydroxyvitamin D3 1alpha-hydroxylase gene expression in macrophages. Kidney Int 2000; 58:559-568.
61. Stewart AF, Adler M, ByersCM, et al. Calciumhomeostasis in immobilization: an example of resorptive hypercalciuria. N Engl J Med 1982; 306:1136-1140.
62. Vahtsevanos K, Kyrgidis A, Verrou E, et al. Longitudinal cohort study of risk factors in cancer patients of bisphosphonate-related osteonecrosis of the jaw. J Clin Oncol 2009; 27:5356-5362.
63. Shoemaker LR. Expanding role of bisphosphonate therapy in children. J Pediatr 1999; 134:264-267.
64. Srivastava T, Alon US. Bisphosphonates: from grandparents to grandchildren. Clin Pediatr (Phila) 1999; 38:687-702.
65. Attard TM, Dhawan A, Kaufman SS, et al. Use of disodium pamidronate in children with hypercalcemia awaiting liver transplantation. Pediatr Transplant 1998; 2:157-159.
66. Kedlaya D, Brandstater ME, Lee JK. Immobilization hypercalcemia in incomplete paraplegia: successful treatment with pamidronate. Arch Phys Med Rehabil 1998; 79:222-225.
67. Platt C, Inward C, McGraw M, et al. Middle-term use of Cinacalcet in paediatric dialysis patients. Pediatr Nephrol 2010; 25:143-148.