ea0071031 | A case of a heterozygous inactivating CASR variant with adult-onset symptomatic hypercalcemia requiring extensive surgery | BES2020
Laurens Veldeman
, Saskia Robbrecht
, Jeroen Breckpot
, Birgit Weynand
, Brigitte Decallonne
Publication: L. Veldeman et al. Calcif Tissue Int 2020 Epub 2020 Apr 19We describe the case of an adult female patient with symptomatic familial hypocalciuric hypercalcemia requiring a step-wise therapeutic approach and the eventual need for a total parathyroidectomy and thyroidectomy to cure symptoms. Genetic analysis demonstrated a heterozygous R227L inactivating CASR gene variant, previously only described in neonatal severe hyperpar...