24-Hydroxylase Deficiency Due to CYP24A1 Sequence Variants: Comparison With Other Vitamin D−mediated Hypercalcemia Disorders
Azer S, Vaughan L, Tebben P, Sas D. 24-Hydroxylase Deficiency Due to CYP24A1 Sequence Variants: Comparison With Other Vitamin D−mediated Hypercalcemia Disorders. Journal Of The Endocrine Society 2021, 5: bvab119. PMID: 34337279, PMCID: PMC8317629, DOI: 10.1210/jendso/bvab119.Peer-Reviewed Original ResearchPositive family historyUrinary calcium:creatinine ratioFamily historyCalcium:creatinine ratioLumbar spine Z-scoreClinical characteristics of patientsRetrospectively reviewed laboratoryIdentified 9 patientsSpine Z-scoreVitamin D toxicityFisher's exact testCharacteristics of patientsLoss-of-function variantsWilcoxon rank sum testRank sum testSerum calciumClinical characteristicsLaboratory findingsCreatinine ratioInactive metabolitesExact testMayo ClinicSymptom onsetGene variantsPatients