2024
Efficacy of Oral Cinacalcet in Non-PTH Nonmalignant Hypercalcemia from Excess 1,25-Dihydroxyvitamin D
Mohan S, Sheehan M, Tebben P, Wermers R. Efficacy of Oral Cinacalcet in Non-PTH Nonmalignant Hypercalcemia from Excess 1,25-Dihydroxyvitamin D. JCEM Case Reports 2024, 2: luae022. PMID: 38476635, PMCID: PMC10928506, DOI: 10.1210/jcemcr/luae022.Peer-Reviewed Original ResearchLow PTHTherapeutic optionsCalcium levelsNormalization of calcium levelsElevated serum calcium levelsSerum calcium levelsMechanism(s) of actionOral cinacalcetSymptomatic hypocalcemiaCinacalcet doseRecurrent nephrolithiasisUrine calciumRare causeGranulomatous diseaseCinacalcetHypercalcemiaFollow-upSymptomatic benefitGenetic testingBiallelic variantsGenetic mutationsMechanism(s)Mild decreasePTHMalignancy
2016
Clinical and biochemical phenotypes of adults with monoallelic and biallelic CYP24A1 mutations: evidence of gene dose effect
O’Keeffe D, Tebben P, Kumar R, Singh R, Wu Y, Wermers R. Clinical and biochemical phenotypes of adults with monoallelic and biallelic CYP24A1 mutations: evidence of gene dose effect. Osteoporosis International 2016, 27: 3121-3125. PMID: 27129455, DOI: 10.1007/s00198-016-3615-6.Peer-Reviewed Original ResearchConceptsMonoallelic mutationsGene dose effectCYP24A1 mutationsCYP24A1 geneBiallelic mutationsBiochemical phenotypeDisease manifestationsElevated serum 1,25(OH)2DBone turnover markersMutations of CYP24A1Dose effectCompound heterozygous mutationsVitamin D metabolitesLow PTH concentrationsSerum 1,25(OH)2DUrine calciumResultsThe probandTurnover markersUrinary calciumHeterozygous mutationsPTH concentrationsD metabolitesSequence informationIntroductionThe objectiveMedical history