Journal
JOURNAL OF BONE AND MINERAL RESEARCH
Volume 32, Issue 11, Pages 2157-2170Publisher
WILEY
DOI: 10.1002/jbmr.3296
Keywords
NEONATES; PARATHYROID HORMONE; VITAMIN D; SYNDROMES; GENETICS
Categories
Funding
- United Kingdom Medical Research Council (MRC) [G9825289, G1000467]
- National Institute for Health Research (NIHR) Oxford Biomedical Research Centre Programme
- Medical Research Council [MR/P020941/1, G9825289, G1000467] Funding Source: researchfish
- National Institute for Health Research [NF-SI-0514-10091] Funding Source: researchfish
- Wellcome Trust [106995/Z/15/Z] Funding Source: researchfish
- MRC [MR/P020941/1, G1000467, G9825289] Funding Source: UKRI
Ask authors/readers for more resources
Hypercalcemia is defined as a serum calcium concentration that is greater than two standard deviations above the normal mean, which in children may vary with age and sex, reflecting changes in the normal physiology at each developmental stage. Hypercalcemic disorders in children may present with hypotonia, poor feeding, vomiting, constipation, abdominal pain, lethargy, polyuria, dehydration, failure to thrive, and seizures. In severe cases renal failure, pancreatitis and reduced consciousness may also occur and older children and adolescents may present with psychiatric symptoms. The causes of hypercalcemia in children can be classified as parathyroid hormone (PTH)-dependent or PTH-independent, and may be congenital or acquired. PTH-independent hypercalcemia, ie, hypercalcemia associated with a suppressed PTH, is commoner in children than PTH-dependent hypercalcemia. Acquired causes of PTH-independent hypercalcemia in children include hypervitaminosis; granulomatous disorders, and endocrinopathies. Congenital syndromes associated with PTH-independent hypercalcemia include idiopathic infantile hypercalcemia (IIH), William's syndrome, and inborn errors of metabolism. PTH-dependent hypercalcemia is usually caused by parathyroid tumors, which may give rise to primary hyperparathyroidism (PHPT) or tertiary hyperparathyroidism, which usually arises in association with chronic renal failure and in the treatment of hypophosphatemic rickets. Acquired causes of PTH-dependent hypercalcemia in neonates include maternal hypocalcemia and extracorporeal membrane oxygenation. PHPT usually occurs as an isolated nonsyndromic and nonhereditary endocrinopathy, but may also occur as a hereditary hypercalcemic disorder such as familial hypocalciuric hypercalcemia, neonatal severe primary hyperparathyroidism, and familial isolated primary hyperparathyroidism, and less commonly, as part of inherited complex syndromic disorders such as multiple endocrine neoplasia (MEN). Advances in identifying the genetic causes have resulted in increased understanding of the underlying biological pathways and improvements in diagnosis. The management of symptomatic hypercalcemia includes interventions such as fluids, antiresorptive medications, and parathyroid surgery. This article presents a clinical, biochemical, and genetic approach to investigating the causes of pediatric hypercalcemia. (C) 2017 The Authors. Journal of Bone and Mineral Research Published by Wiley Periodicals Inc.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available