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
High Prevalence of Kidney Cysts in Patients With CYP24A1 Deficiency
Hanna C, Potretzke T, Cogal A, Mkhaimer Y, Tebben P, Torres V, Lieske J, Harris P, Sas D, Milliner D, Chebib F. High Prevalence of Kidney Cysts in Patients With CYP24A1 Deficiency. Kidney International Reports 2021, 6: 1895-1903. PMID: 34307984, PMCID: PMC8258502, DOI: 10.1016/j.ekir.2021.04.030.Peer-Reviewed Original ResearchCYP24A1 deficiencyPathogenic variantsMedian ageKidney cystsKidney diseaseAge- and sex-matched control populationRetrospective analysis of patientsSex-matched control populationAnalysis of patientsLoss-of-function variantsVitamin D metabolismChronic kidney diseaseSuspected pathogenic variantsCystic kidney diseaseRare hereditary diseasesStone riskRetrospective analysisD metabolismMedian numberFamily historyCYP24A1Genetic confirmationPatientsHighest prevalenceHereditary disease