Cinacalcet Reverses Short QT Interval in Familial Hypocalciuric Hypercalcemia Type 1.

ABSTRACT:

Context

Familial hypocalciuric hypercalcemia type 1 (FHH-1) defines an autosomal dominant disease, related to mutations in the CASR gene, with mild hypercalcemia in most cases. Cases of FHH-1 with a short QT interval have not been reported to date.

Objective

Three family members presented with FHH-1 and short QT interval (<360 ms), a condition that could lead to cardiac arrhythmias, and the effects of cinacalcet, an allosteric modulator of the CaSR, in rectifying the abnormal sensitivity of the mutant CaSR and in correcting the short QT interval were determined.

Methods

CASR mutational analysis was performed by next-generation sequencing and functional consequences of the identified CaSR variant (p.Ile555Thr), and effects of cinacalcet were assessed in HEK293 cells ex

SUBMITTER: Cuny T 

PROVIDER: S-EPMC7615553 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature