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 w...

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Published in:The journal of clinical endocrinology and metabolism 2024-01, Vol.109 (2), p.549-556
Main Authors: Cuny, Thomas, Romanet, Pauline, Goldsworthy, Michelle, Guérin, Carole, Wilkin, Marie, Roche, Philippe, Sebag, Frédéric, van Summeren, Lynn E, Stevenson, Mark, Howles, Sarah A, Deharo, Jean-Claude, Thakker, Rajesh V, Taïeb, David
Format: Article
Language:English
Subjects:
Calcium
Cinacalcet - therapeutic use
Genetics
HEK293 Cells
Human health and pathology
Humans
Hypercalcemia - drug therapy
Hypercalcemia - genetics
Hyperparathyroidism
Life Sciences
Mutation
Parathyroid Hormone
Phosphates
Receptors, Calcium-Sensing - genetics
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Summary: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 (50% within two hours, and decreases in serum calcium and increases in serum phosphate occurred within 8 hours, with rectification of the QT interval, which remained normal after 3 months of cinacalcet treatment. Conclusion Our results indicate that FHH-1 patients should be assessed for a short QT interval and a cinacalcet test used to select patients who are likely to benefit from this treatment.
ISSN:0021-972X
1945-7197
DOI:10.1210/clinem/dgad494