Familial hypocalciuric hypercalcemia in an infant: diagnosis and management quandaries
Goldsweig B, Yilmaz R, Waikar A, Brownstein C, Carpenter T. Familial hypocalciuric hypercalcemia in an infant: diagnosis and management quandaries. Journal Of Bone And Mineral Research 2024, 39: 1406-1411. PMID: 39163488, DOI: 10.1093/jbmr/zjae137.Peer-Reviewed Original ResearchFamilial hypocalciuric hypercalcemiaCalcium-sensing receptor geneLow calcium formulaParathyroid hormoneHypocalciuric hypercalcemiaSerum calciumUrinary calcium excretionElevated serum calciumAutosomal-dominant mannerWhole-exome sequencingExtracellular calcium-sensingMonths of ageMild hyperparathyroidismPTH levelsCalcium excretionIdiopathic hypoparathyroidismNewborn girlInactivating variantsRare formPathogenic variantsDownstream signaling proteinsManagement quandaryBenign conditionsReceptor geneExome sequencing