2023
SAT257 Efficacy Of Oral Cinacalcet In Non-PTH Non-Malignant Hypercalcemia From Excess 1,25 Dihydroxyvitamin D
Mohan S, Sheehan M, Tebben P, Wermers R. SAT257 Efficacy Of Oral Cinacalcet In Non-PTH Non-Malignant Hypercalcemia From Excess 1,25 Dihydroxyvitamin D. Journal Of The Endocrine Society 2023, 7: bvad114.553. PMCID: PMC10554413, DOI: 10.1210/jendso/bvad114.553.Peer-Reviewed Original ResearchMale patientsFemale patientsCYP24A1 geneNon-malignantCalcium levelsElevated 1,25-dihydroxyvitamin DNormalization of calcium levelsDecreased intestinal calcium absorptionEstimated glomerular filtration rateFractional excretion of calciumCYP24A1 gene mutationsDiscontinuation of cinacalcetTreated with cinacalcetEnzyme 1-alpha-hydroxylaseYear of therapySerum calcium levelsHypercalcemia of malignancyIntestinal calcium absorptionMaintenance of normocalcemiaGlomerular filtration rateExcretion of calciumSerum calcium concentrationChronic kidney diseasePTH-related peptideOral cinacalcet
2021
Variable Clinical Presentation of Children With Hereditary Hypophosphatemic Rickets With Hypercalciuria: A Case Series
Christensen S, Tebben P, Sas D, Creo A. Variable Clinical Presentation of Children With Hereditary Hypophosphatemic Rickets With Hypercalciuria: A Case Series. Journal Of The Endocrine Society 2021, 5: a708-a708. PMCID: PMC8090272, DOI: 10.1210/jendso/bvab048.1442.Peer-Reviewed Original ResearchYear old maleYear old femaleHereditary hypophosphatemic ricketsHypophosphatemic ricketsDihydroxyvitamin DSerum phosphorusPhosphate wastingVitamin DElevated 1,25-dihydroxyvitamin DRecurrent urinary stonesLower extremity painVariable clinical presentationLow serum phosphorusPatellofemoral pain syndromePhenotype-genotype correlationProximal renal tubular cellsRenal tubular cellsSLC34A3 geneRenal ultrasoundUrine phosphorusExtremity painPain syndromePresenting symptomsUrine phosphateBone symptoms
2012
Hypercalcemia, Hypercalciuria, and Elevated Calcitriol Concentrations with Autosomal Dominant Transmission Due to CYP24A1 Mutations: Effects of Ketoconazole Therapy
Tebben P, Milliner D, Horst R, Harris P, Singh R, Wu Y, Foreman J, Chelminski P, Kumar R. Hypercalcemia, Hypercalciuria, and Elevated Calcitriol Concentrations with Autosomal Dominant Transmission Due to CYP24A1 Mutations: Effects of Ketoconazole Therapy. The Journal Of Clinical Endocrinology & Metabolism 2012, 97: e423-e427. PMID: 22337913, PMCID: PMC3319216, DOI: 10.1210/jc.2011-1935.Peer-Reviewed Original ResearchConceptsSplice junction mutationElevated serum 1,25-dihydroxyvitamin DSerum 1,25-dihydroxyvitamin DAutosomal dominant transmissionCYP24A1 geneIntermittent hypercalcemiaUrinary calciumAnalysis of family membersDominant transmissionNormal rangeD concentrationsElevated 1,25-dihydroxyvitamin DReduced bone mineral densitySerum 24,25-dihydroxyvitamin DCYP24A1 gene mutationsElevated urinary calciumReduced urinary calciumBone mineral densityGenetic analysisGenetic basisElevated 1,25-dihydroxyvitamin D concentrationsStatistically significant reductionDecreased PTH concentrationsFamily membersGenes