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Hypercalcemic Disorders in Children.

Victoria J Stokes1, Morten F Nielsen1,2, Fadil M Hannan1,3

  • 1Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|September 16, 2017
PubMed
Summary
This summary is machine-generated.

Pediatric hypercalcemia, a condition of high serum calcium in children, has diverse causes, including PTH-dependent and PTH-independent disorders. This review outlines a clinical, biochemical, and genetic approach for diagnosis and management.

Keywords:
GENETICSNEONATESPARATHYROID HORMONESYNDROMESVITAMIN D

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Area of Science:

  • Pediatric endocrinology
  • Mineral metabolism
  • Genetics

Background:

  • Hypercalcemia in children is defined as serum calcium above two standard deviations from the normal mean, varying with age and sex.
  • Symptoms range from poor feeding and vomiting to seizures and renal failure, with psychiatric symptoms in older children.
  • Causes are classified as parathyroid hormone (PTH)-dependent or PTH-independent, congenital or acquired.

Purpose of the Study:

  • To present a comprehensive clinical, biochemical, and genetic approach to investigating the causes of pediatric hypercalcemia.
  • To enhance understanding of the underlying biological pathways and diagnostic improvements.
  • To guide the management of symptomatic hypercalcemia.

Main Methods:

  • Clinical evaluation of presenting symptoms and patient history.
  • Biochemical assays to measure serum calcium and parathyroid hormone (PTH) levels.
  • Genetic analysis to identify underlying inherited or congenital causes.

Main Results:

  • PTH-independent hypercalcemia is more common in children than PTH-dependent forms.
  • Acquired causes include hypervitaminosis, granulomatous disorders, and endocrinopathies.
  • Congenital causes encompass idiopathic infantile hypercalcemia, Williams syndrome, and inborn errors of metabolism.
  • PTH-dependent hypercalcemia is often linked to parathyroid tumors (primary hyperparathyroidism) or chronic renal failure (tertiary hyperparathyroidism).
  • Hereditary causes include familial hypocalciuric hypercalcemia and multiple endocrine neoplasia (MEN).

Conclusions:

  • Advances in genetic identification have improved the understanding and diagnosis of pediatric hypercalcemia.
  • A multi-faceted approach combining clinical, biochemical, and genetic data is crucial for accurate diagnosis.
  • Management strategies involve hydration, medications, and potentially surgery for symptomatic cases.