Abstract
Calcium plays an important role in a number of physiological processes as diverse as bone formation and turnover, neuronal cell excitability, muscle contractility, and blood clotting. Significant shifts in serum calcium concentration have adverse effects on these physiological functions. In children, maintenance of adequate calcium balance is particularly important since bone deposition and growth are closely linked to the availability of calcium. Higher organisms have developed mechanisms to regulate the extracellular concentration of calcium, normally affected by intermittent changes in calcium absorption in the gut, continuous mineral bone turnover, and calcium losses in the urine. Extracellular calcium levels are set within a very narrow range by the concerted action of several regulatory “calciotropic” hormones on calcium handling in the gastrointestinal tract, bone, and kidney. The abnormal function of calciotropic hormones or the failure of any of these organs to handle calcium properly can cause either hypo-or hypercalcemia. Treatment is directed at restoring normal calcium levels by either enhancing calcium availability or promoting its clearance from the extracellular compartment.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Diaz R, Fuleihan GE, Brown EM. Parathyroid hormone and polyhormones: production and export. In: Fray JCS, editor. Handbook of physiology. New York: Oxford University Press; 2000. p. 607–62.
Juppner H, Potts JT. The roles of parathyroid hormone and parathyroid hormone-related peptide in calcium metabolism and bone biology: their biological actions and receptors. In: Fray JCS, editor. Handbook of physiology. New York: Oxford University Press; 2000. p. 663–98.
Brown EM, MacLeod RJ. Extracellular calcium sensing and extracellular calcium signaling. Physiol Rev. 2001;81(1):239–97.
Slatopolsky E, Dusso A, Brown AJ. The role of phosphorus in the development of secondary hyperparathyroidism and parathyroid cell proliferation in chronic renal failure. Am J Med Sci. 1999;317(6):370–6.
Rubin DA, et al. A G protein-coupled receptor from zebrafish is activated by human parathyroid hormone and not by human or teleost parathyroid hormone-related peptide. Implications for the evolutionary conservation of calcium-regulating peptide hormones. J Biol Chem. 1999;274(33):23035–42.
Suva W, Winslow GA, Wettenhall RE, et al. A parathyroid hormone-related protein implicated in malignant hypercalcemia: cloning and expression. Science. 1987;237(4817):893–6.
Kronenberg HM, Karaplis AC, Lanske B. Role of parathyroid hormone-related protein in skeletal development. Ann N Y Acad Sci. 1996;785:119–23.
Kovacs CS, et al. Parathyroid hormone-related peptide (PTHrP) regulates fetal-placental calcium transport through a receptor distinct from the PTH/PTHrP receptor. Proc Natl Acad Sci U S A. 1996;93(26):15233–8.
Bikle D, Adams J, Christakos S. Vitamin D: production, metabolism, mechanism of action, and clinical requirements. In: Rosen C, editor. Primer on the metabolic bone diseases and disorders of mineral metabolism. Hoboken, NJ: Wiley; 2008. p. 141–9.
Shimada T, et al. Cloning and characterization of FGF23 as a causative factor of tumor-induced osteomalacia. Proc Natl Acad Sci U S A. 2001;98(11):6500–5.
Fuss M, et al. Calcium and vitamin D metabolism in granulomatous diseases. Clin Rheumatol. 1992;11(1):28–36.
Friedman PA. Calcium transport in the kidney. Curr Opin Nephrol Hypertens. 1999;8(5):589–95.
Martin TJ, Moseley JM. Calcitonin. In: DeGroot LJ, Jameson JL, editors. Endocrinology. Philadelphia, PA: WB Saunders; 2001. p. 999–1008.
Kovacs CS, Kronenberg HM. Maternal-fetal calcium and bone metabolism during pregnancy, puerperium and lactation. Endocr Rev. 1997;18:832–72.
Carpenter TO. Disorders in mineral metabolism in childhood. In: Rosen C, editor. Primer on the metabolic bone diseases and disorders of mineral metabolism. Hoboken, NJ: Wiley; 2008. p. 349–53.
Thakker RV. The molecular genetics of hypoparathyroidism. In: Bilezekian JP, Levine MA, Marcus R, editors. The parathyroids. San Diego, CA: Academic; 2001. p. 779–90.
Tomar N, Bora H, Singh R, et al. Presence and significance of a R110W mutation in the DNA-binding domain of GCM2 gene in patients with isolated hypoparathyroidism and their family members. Eur J Endocrinol. 2010;162(2):407–21.
Arnold A, et al. Mutation of the signal peptide-encoding region of the preproparathyroid hormone gene in familial isolated hypoparathyroidism. J Endocrinol Investig. 2013;36(11):1121–7.
Yesiltepe Mutiu G, et al. A novel de novo GATA binding protein 3 mutation in a Turkish boy with hypoparathyroidism, deafness, and renal dysplasia syndrome. J Clin Res Pediatr Endocrinol. 2015;7(4):344–8.
Carey AH, et al. Molecular genetic study of the frequency of monosomy 22q11 in DiGeorge syndrome. Am J Hum Genet. 1992;51(5):964–70.
Parvari R, et al. Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. Nat Genet. 2002;32(3):448–52.
Thakker RV. Molecular genetics of mineral metabolic disorders. J Inherit Metab Dis. 1992;15(4):592–609.
Whyte MP. Autoimmune hypoparathyroidism. In: Bilezekian JP, Levine MA, Marcus R, editors. The parathyroids. San Diego, CA: Academic; 2001. p. 791–806.
Bettinelli A, et al. Use of calcium excretion values to distinguish two forms of primary renal tubular hypokalemic alkalosis: bartter and Gitelman syndromes. J Pediatr. 1992;120(1):38–43.
Cardenas-Rivero N, et al. Hypocalcemia in critically ill children. J Pediatr. 1989;114(6):946–51.
Rubin MR, Levin MA. Hypoparathyroidism and pseudohypoparathyroidism. In: Rosen C, editor. Primer on the metabolic bone diseases and disorders of mineral metabolism. Hoboken, NJ: Wiley; 2008. p. 354–61.
Lips P, van Schoor NM, Bravenboer N. Vitamin D-related disorders. In: Rosen C, editor. Primer on the metabolic bone diseases and disorders of mineral metabolism. Hoboken, NJ: Wiley; 2008. p. 329–35.
Cusano NE, et al. Use of parathyroid hormone in hypoparathyroidism. J Endocrinol Investig. 2013;36(11):1121–7.
Arnold A. Genetic basis of endocrine disease 5. Molecular genetics of parathyroid gland neoplasia. J Clin Endocrinol Metab. 1993;77(5):1108–12.
Chandrasekharappa SC, et al. Positional cloning of the gene for multiple endocrine neoplasia-type 1. Science. 1997;276(5311):404–7.
Mulligan LM, et al. Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A. Nature. 1993;363(6428):458–60.
Haden ST, et al. The effect of lithium on calcium-induced changes in adrenocorticotrophin levels. J Clin Endocrinol Metab. 1999;84(1):198–200.
Schipani E, Kruse K, Juppner H. A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia. Science. 1995;268(5207):98–100.
Egbuna OI, Brown EM. Hypercalcaemic and hypocalcaemic conditions due to calcium-sensing receptor mutations. Best Pract Res Clin Rheumatol. 2008;22(1):129–48.
Rigby WF. The immunobiology of vitamin D. Immunol Today. 1988;9(2):54–8.
Burman KD, et al. Ionized and total serum calcium and parathyroid hormone in hyperthyroidism. Ann Intern Med. 1976;84:668–71.
Britto JM, et al. Osteoblasts mediate thyroid hormone stimulation of osteoclastic bone resorption. Endocrinology. 1994;134(1):169–76.
Bergstrom WH. Hypercalciuria and hypercalcemia complicating immobilization. Am J Dis Child. 1978;132(6):553–4.
Valentic JP, Elias AN, Weinstein GD. Hypercalcemia associated with oral isotretinoin in the treatment of severe acne. JAMA. 1983;250(14):1899–900.
Garabedian M, et al. Elevated plasma 1,25-dihydroxyvitamin D concentrations in infants with hypercalcemia and an elfin facies. N Engl J Med. 1985;312(15):948–52.
Taylor AB, Stern PH, Bell NH. Abnormal regulation of circulating 25-hydroxyvitamin D in the Williams syndrome. N Engl J Med. 1982;306(16):972–5.
Sharata H, Postellon DC, Hashimoto K. Subcutaneous fat necrosis, hypercalcemia, and prostaglandin E. Pediatr Dermatol. 1995;12(1):43–7.
Kruse K, Irle U, Uhlig R. Elevated 1,25-dihydroxyvitamin D serum concentrations in infants with subcutaneous fat necrosis. J Pediatr. 1993;122(3):460–3.
Chen CC, et al. Comparison of parathyroid imaging with technetium-99 m- pertechnetate/sestamibi subtraction, double-phase technetium-99 m- sestamibi and technetium-99 m-sestamibi SPECT. J Nucl Med. 1997;38(6):834–9.
Boggs JE, et al. Intraoperative parathyroid hormone monitoring as an adjunct to parathyroidectomy. Surgery. 1996;120(6):954–8.
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2018 Springer International Publishing AG, part of Springer Nature
About this chapter
Cite this chapter
Diaz, R., Suárez-Ortega, L. (2018). Abnormalities in Calcium Homeostasis. In: Radovick, S., Misra, M. (eds) Pediatric Endocrinology. Springer, Cham. https://doi.org/10.1007/978-3-319-73782-9_22
Download citation
DOI: https://doi.org/10.1007/978-3-319-73782-9_22
Published:
Publisher Name: Springer, Cham
Print ISBN: 978-3-319-73781-2
Online ISBN: 978-3-319-73782-9
eBook Packages: MedicineMedicine (R0)