Identification and characterization of a novel CASR mutation causing familial hypocalciuric hypercalcemia.
calcimimetics
calcium-sensing receptor
familial hypocalciuric hypercalcemia
half-maximal effective concentration
parathyroid hormone
Journal
Frontiers in endocrinology
ISSN: 1664-2392
Titre abrégé: Front Endocrinol (Lausanne)
Pays: Switzerland
ID NLM: 101555782
Informations de publication
Date de publication:
2024
2024
Historique:
received:
08
09
2023
accepted:
22
01
2024
medline:
18
3
2024
pubmed:
15
3
2024
entrez:
15
3
2024
Statut:
epublish
Résumé
Although a monoallelic mutation in the calcium-sensing receptor ( A 45-year-old male presenting with moderate hypercalcemia, hypocalciuria, and inappropriately high parathyroid hormone (PTH) had a good response to cinacalcet (total serum calcium (Ca Sanger sequencing of the This proband was found to carry a This novel
Identifiants
pubmed: 38487341
doi: 10.3389/fendo.2024.1291160
pmc: PMC10937390
doi:
Substances chimiques
Receptors, Calcium-Sensing
0
Calcium
SY7Q814VUP
CASR protein, human
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1291160Informations de copyright
Copyright © 2024 Lin, Ding, Huang, Chen, Lee, Sung and Lin.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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