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Identification and characterization of a novel CASR mutation causing familial hypocalciuric hypercalcemia.

Frontiers in endocrinology - 1 Jan 2024

Lin Chien-Ming, Ding Yi-Xuan, Huang Shih-Ming, Chen Ying-Chuan, Lee Hwei-Jen, Sung Chih-Chien, Lin Shih-Hua

Abstract excerpt

Context: Although a monoallelic mutation in the calcium-sensing receptor (CASR) gene causes familial hypocalciuric hypercalcemia (FHH), the functional characterization of the identified CASR mutation linked to the clinical response to calcimimetics therapy is still limited. Objective: A 45-year-old male presenting with moderate hypercalcemia, hypocalciuria, and inappropriately high parathyroid hormone (PTH) had a...

Topics

Male
Humans
Middle Aged
Hypercalcemia
Receptors, Calcium-Sensing
Calcium
Mutation
Hyperparathyroidism
Kidney Diseases

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Open in PubMed Open full text

Identifiers

PMID: 38487341
DOI: 10.3389/fendo.2024.1291160
PMCID: PMC10937390

Genes

CASR
AP2S1
GNA11
PTH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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