Cinacalcet monotherapy in neonatal severe hyperparathyroidism: a case study and review.

ABSTRACT:

Context

Neonatal severe hyperparathyroidism (NSHPT) is a severe form of familial hypocalciuric hypercalcemia characterized by severe hypercalcemia and skeletal demineralization. In most cases, NSHPT is due to biallelic loss-of-function mutations in the CASR gene encoding the calcium-sensing receptor (CaSR), but some patients have heterozygous mutations. Conventional treatment consists of iv saline, bisphosphonates, and parathyroidectomy.

Objective

The aim of this project was to characterize the molecular basis for NSHPT in an affected newborn and to describe the response to monotherapy with cinacalcet.

Methods

Clinical and biochemical features were monitored as cinacalcet therapy was initiated and maintained. Genomic DNA was obtained from the proband and parents. The

SUBMITTER: Gannon AW 

PROVIDER: S-EPMC3879678 | biostudies-literature | 2014 Jan

REPOSITORIES: biostudies-literature