2018
Blau Syndrome: An Unusual Cause of Hypercalcemia in a Child
Lo H, Muskardin T, Tebben P. Blau Syndrome: An Unusual Cause of Hypercalcemia in a Child. AACE Clinical Case Reports 2018, 4: e278-e281. DOI: 10.4158/accr-2017-0041.Peer-Reviewed Case Reports and Technical NotesVitamin D-mediated hypercalcemiaBlau syndromeDiagnosis of Blau syndromeCause of hypercalcemiaResponse to therapyGranulomatous inflammatory diseaseSurgically treated Graves' diseaseAngiotensin-converting enzyme concentrationNegative fungalMethods ClinicalGranulomatous disorderGraves' diseaseSerum calciumParathyroid hormoneEye diseaseUnusual causeHypercalcemiaNOD2 geneGenetic testingInflammatory diseasesTuberculosis testingInflammatory jointsSyndromeGenetic findingsJoint effusion
2016
Vitamin D-Mediated Hypercalcemia: Mechanisms, Diagnosis, and Treatment
Tebben P, Singh R, Kumar R. Vitamin D-Mediated Hypercalcemia: Mechanisms, Diagnosis, and Treatment. Endocrine Reviews 2016, 37: 521-547. PMID: 27588937, PMCID: PMC5045493, DOI: 10.1210/er.2016-1070.Peer-Reviewed Original ResearchConceptsVitamin D receptorD receptorVitamin D-mediated hypercalcemiaElevated serum calcium concentrationsAssociated with elevated serumProduction of 1,25-dihydroxyvitamin DSuppressing PTH concentrationsAssociated with malignancyReduced bone densityRenal stone formersSerum calcium concentrationVitamin D metabolitesVitamin D<sub>3</sub>Primary hyperparathyroidismElevated serumPTH concentrationsMonoallelic mutationsClinical featuresCYP24A1 geneD metabolitesGranulomatous diseaseBiochemical diagnosisTumor cellsVitamin DHypercalcemia