2024
An infant developing hypercalcemia and hypophosphatemia due to the use of exclusively almond milk
Salama M, Tebben P, Al Nofal A. An infant developing hypercalcemia and hypophosphatemia due to the use of exclusively almond milk. Journal Of Pediatric Endocrinology And Metabolism 2024, 37: 375-379. PMID: 38414167, DOI: 10.1515/jpem-2023-0494.Peer-Reviewed Case Reports and Technical NotesConceptsParathyroid hormoneCreatinine ratioUrine calcium-to-creatinine ratioHistory of biliary atresiaCalcium to creatinine ratioMonths prior to presentationAlmond milkCow's milk allergyMilk consumptionMonths of ageSevere hypercalcemiaBiliary atresiaAlternative to cow milkCow's milkD levelsLiver transplantationPlant-based milk alternativesCase reportInitial managementIntravenous fluidsMilk allergyHypercalcemiaMineral contentCalcium concentrationHypophosphatemia
2021
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