2018
Phosphaturic mesenchymal tumors: what an endocrinologist should know
Boland J, Tebben P, Folpe A. Phosphaturic mesenchymal tumors: what an endocrinologist should know. Journal Of Endocrinological Investigation 2018, 41: 1173-1184. PMID: 29446010, DOI: 10.1007/s40618-018-0849-5.Peer-Reviewed Original ResearchConceptsTumor-induced osteomalaciaPhosphaturic mesenchymal tumorMesenchymal tumorsCase of tumor-induced osteomalaciaRare cause of osteomalaciaPhosphaturic hormone fibroblast growth factor 23Recurrent genetic eventsHormone fibroblast growth factor 23Renal phosphate wastingFibroblast growth factor 23Autocrine/paracrine signaling loopTubular phosphate reabsorptionProgressive muscle weaknessProximal tubular phosphate reabsorptionConstellation of symptomsMolecular genetic aspectsBone painCalcitriol therapyCurative surgeryOncogenic osteomalaciaOffending tumorRare causeSurgical removalClinical featuresPrimary treatment
2012
Hypercalcemia, Hypercalciuria, and Elevated Calcitriol Concentrations with Autosomal Dominant Transmission Due to CYP24A1 Mutations: Effects of Ketoconazole Therapy
Tebben P, Milliner D, Horst R, Harris P, Singh R, Wu Y, Foreman J, Chelminski P, Kumar R. Hypercalcemia, Hypercalciuria, and Elevated Calcitriol Concentrations with Autosomal Dominant Transmission Due to CYP24A1 Mutations: Effects of Ketoconazole Therapy. The Journal Of Clinical Endocrinology & Metabolism 2012, 97: e423-e427. PMID: 22337913, PMCID: PMC3319216, DOI: 10.1210/jc.2011-1935.Peer-Reviewed Original ResearchConceptsSplice junction mutationElevated serum 1,25-dihydroxyvitamin DSerum 1,25-dihydroxyvitamin DAutosomal dominant transmissionCYP24A1 geneIntermittent hypercalcemiaUrinary calciumAnalysis of family membersDominant transmissionNormal rangeD concentrationsElevated 1,25-dihydroxyvitamin DReduced bone mineral densitySerum 24,25-dihydroxyvitamin DCYP24A1 gene mutationsElevated urinary calciumReduced urinary calciumBone mineral densityGenetic analysisGenetic basisElevated 1,25-dihydroxyvitamin D concentrationsStatistically significant reductionDecreased PTH concentrationsFamily membersGenes