2024
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
2012
Hypercalcemia in Children Receiving Pharmacologic Doses of Vitamin D
Vanstone MB, Oberfield SE, Shader L, Ardeshirpour L, Carpenter TO. Hypercalcemia in Children Receiving Pharmacologic Doses of Vitamin D. Pediatrics 2012, 129: e1060-e1063. PMID: 22412034, PMCID: PMC8194455, DOI: 10.1542/peds.2011-1663.Peer-Reviewed Original ResearchConceptsVitamin DSerum calciumPeak serum calciumResolution of hypercalcemiaWide dosing rangeElevated serum calciumVitamin D deficiencyAge-specific guidelinesAge 2 weeksAdministration of dosagesDaily dietary intakeD deficiencyDeficient ricketsPharmacologic dosesTreatment regimensD levelsHypervitaminosis DDietary intakeDosage recommendationsDose selectionDosing rangeGeneral populationPharmacologic dosingHypercalcemiaSmall children