Neonatal hyperparathyroidism

Definition:

Neonatal hyperparathyroidism (NHPT) is a disorder of calcium homeostasis that is associated with missense mutations of the calcium-sensing receptor. NHPT is characterized by marked elevation in serum calcium and parathyroid hormone (PTH) levels, skeletal demineralization, and parathyroid cellular hyperplasia that can be lethal without parathyroidectomy.

References:

[1]. M Bai, et al. Markedly reduced activity of mutant calcium-sensing receptor with an inserted Alu element from a kindred with familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. J Clin Invest. 1997 Apr 15;99(8):1917-25. [Content Brief]

[2]. S H Pearce, et al. Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism. J Clin Invest. 1995 Dec;96(6):2683-92. [Content Brief]

[3]. Yoshiro Suzuki, et al. TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism. Am J Hum Genet. 2018 Jun 7;102(6):1104-1114. [Content Brief]

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