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 variantsPatientsHigh 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