2019
Rickets severity predicts clinical outcomes in children with X-linked hypophosphatemia: Utility of the radiographic Rickets Severity Score
Thacher TD, Pettifor JM, Tebben PJ, Creo AL, Skrinar A, Mao M, Chen CY, Chang T, San Martin J, Carpenter TO. Rickets severity predicts clinical outcomes in children with X-linked hypophosphatemia: Utility of the radiographic Rickets Severity Score. Bone 2019, 122: 76-81. PMID: 30772600, DOI: 10.1016/j.bone.2019.02.010.Peer-Reviewed Original ResearchConceptsRickets Severity ScoreSerum alkaline phosphataseSeverity scoreSevere self-reported painPediatric Outcomes Data Collection InstrumentPhase 2 clinical trialAlkaline phosphataseLess physical functionSelf-reported painSevere clinical featuresHeight z-scoreRadiographic Global ImpressionPediatric Orthopaedic SocietyIntra-rater reliabilitySubstantial inter-rater reliabilityClinical featuresClinical outcomesBilateral kneesGlobal ImpressionPhysical functionSubstantial intra-rater reliabilityWeek 64Clinical trialsBurosumab treatmentFunctional impairment
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
2017
Unexpected widespread hypophosphatemia and bone disease associated with elemental formula use in infants and children
Ballesteros L, S. N, Gordon RJ, Ward L, Backeljauw P, Wasserman H, Weber DR, DiMeglio LA, Gagne J, Stein R, Cody D, Simmons K, Zimakas P, Topor LS, Agrawal S, Calabria A, Tebben P, Faircloth R, Imel EA, Casey L, Carpenter TO. Unexpected widespread hypophosphatemia and bone disease associated with elemental formula use in infants and children. Bone 2017, 97: 287-292. PMID: 28167344, PMCID: PMC5884631, DOI: 10.1016/j.bone.2017.02.003.Peer-Reviewed Original ResearchConceptsElemental formula useFormula useSkeletal diseaseRetrospective chart reviewInadequate dietary intakeCertain clinical settingsFormula productsEffect of treatmentSevere malabsorptionChart reviewSevere hypocalcemiaClinical featuresClinical profileRenal excretionDietary intakeCommon findingMineral metabolismBone diseaseHypophosphatemiaPhosphate supplementationSkeletal radiographsCareful monitoringComplex illnessRenal conservationClinical setting
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