title: Hypercalcemia in children: an overview.
abstract: Hypercalcemia occurs in children of all ages. A serum calcium level over 15 mg/dL can be life-threatening. The association between familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NHPT) has been discussed. FHH is characterized by a high serum calcium concentration, relatively low urine calcium excretion, and an inappropriately normal parathyroid hormone (PTH) concentration. On the other hand, NHPT is a rare disease characterized by markedly increased serum calcium (15 mg/dL) and PTH concentrations, and is fatal without parathyroidectomy early in life. Recently, a complementary DNA encoding an extracellular calcium-sensing receptor has been isolated. Furthermore, three mutations in the receptor gene in FHH and NHPT individuals have been described. Thus, heterozygotes and homozygotes of FHH may have an intermittent hypercalcemia and NHPT, respectively. Vitamin D-related hypercalcemia, and vitamin D intoxication and immobilization are also discussed.
authors.affiliation: Department of Pediatrics, School of Medicine, Kumamoto University, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Nishiyama
mesh_terms: D002135:Calcium-Binding Proteins / Q000235:genetics; D002648:Child; D006801:Humans; D006934:Hypercalcemia / Q000209:etiology / Q000235:genetics / Q000503:physiopathology; D006961:Hyperparathyroidism / Q000150:complications; D007223:Infant; D010012:Osteogenesis; D014807:Vitamin D / Q000378:metabolism
chemical_list: D002135:Calcium-Binding Proteins; D014807:Vitamin D