A Novel Mutation in Calcium-Sensing Receptor Presenting as Familial Hypocalciuric Hypercalcemia in a Young Man
Madhavan P, Van Do TH, Bale A, Majumdar S. A Novel Mutation in Calcium-Sensing Receptor Presenting as Familial Hypocalciuric Hypercalcemia in a Young Man. AACE Clinical Case Reports 2019, 5: e226-e229. PMID: 31967040, PMCID: PMC6873832, DOI: 10.4158/accr-2018-0236.Peer-Reviewed Case Reports and Technical NotesFamilial hypocalciuric hypercalcemiaCalcium-sensing receptorHypocalciuric hypercalcemiaParathyroid growthLow urinary calcium excretionLong-term clinical followEvaluation of hypercalcemiaEvidence of adenomaElevated serum calciumUrinary calcium excretionMultiple endocrine neoplasiaAltered set pointCalcium excretionPrimary hyperparathyroidismClinical followSerum calciumClinical findingsSignificant hypercalcemiaSurgical interventionTomography scanEndocrine neoplasiaFamily historyHypercalcemiaBipolar disorderCalcium homeostasis