Cinacalcet therapy in a child with novel homozygous CASR p.Glu353Lys mutation causing familial hypocalciuric hypercalcemia type 1: case report and review of the literature

CONCLUSIONS: FHH can be seen in heterozygous as well as homozygous CASR gene mutations. Different clinical findings may occur in different individuals from the same family. Cinacalcet therapy can be used successfully in the treatment of individuals with FHH.PMID:37853976 | DOI:10.24953/turkjped.2022.1040
Source: The Turkish Journal of Pediatrics - Category: Pediatrics Authors: Source Type: research