2023
Klotho Overexpression Is Frequently Associated With Upstream Rearrangements in Fusion-Negative Phosphaturic Mesenchymal Tumors of Bone and Sinonasal Tract
Lee J, Hsieh T, Kao Y, Tsai C, Huang H, Shih C, Song H, Oda Y, Chih-Hsueh Chen P, Pan C, Sittampalam K, Petersson F, Konishi E, Chiu W, Chen C, Carpenter T, Lu T, Chang C, Huang S, Folpe A. Klotho Overexpression Is Frequently Associated With Upstream Rearrangements in Fusion-Negative Phosphaturic Mesenchymal Tumors of Bone and Sinonasal Tract. Modern Pathology 2023, 36: 100336. PMID: 37742927, DOI: 10.1016/j.modpat.2023.100336.Peer-Reviewed Original ResearchConceptsPhosphaturic mesenchymal tumorMesenchymal tumorsSinonasal tractFibroblast growth factor 23Growth factor 23Fusion-positive casesBreak-apart fluorescenceSinonasal locationFISH-positive casesFinal cohortFactor 23Situ hybridizationUncommon neoplasmLarge cohortKlotho overexpressionFGFR1 inhibitionTumorsKL expressionCohortSoft tissueWhole genomic sequencingPromoter methylationConcordant resultsPatientsFurther investigationA De Novo Deleterious PHEX Variant Without Clinical Features of X-Linked Hypophosphatemia
Kayser M, Jain P, Bale A, Carpenter T. A De Novo Deleterious PHEX Variant Without Clinical Features of X-Linked Hypophosphatemia. JCEM Case Reports 2023, 1: luad082. PMID: 37908207, PMCID: PMC10586592, DOI: 10.1210/jcemcr/luad082.Peer-Reviewed Original ResearchSkewed X-inactivationFibroblast growth factor 23Growth factor 23Intrauterine growth restrictionSingle nucleotide polymorphismsDiagnosis of XLHClinical featuresFactor 23Duodenal atresiaRadiographic featuresGrowth restrictionPostnatal genetic testingAndrogen receptor locusPotential treatmentGenetic testingHypophosphatemiaXLHHereditary ricketsDominant disorderPrenatal identificationCommon formHemizygous malesHeterozygous disruptionRicketsHeterozygous females
2021
Serum Levels of Lipocalin Are Lower in Adolescents With X-Linked Hypophosphatemia
Simpson C, Santoro A, Carpenter T, Insogna K. Serum Levels of Lipocalin Are Lower in Adolescents With X-Linked Hypophosphatemia. Journal Of The Endocrine Society 2021, 5: a27-a27. PMCID: PMC8089365, DOI: 10.1210/jendso/bvab048.052.Peer-Reviewed Original ResearchWeight/height z-scoreHeight z-scoreExcessive weight gainZ-scoreFibroblast growth factor 23Greater riskWeight gainRegular aerobic exerciseDirect pathogenic roleGrowth factor 23Impaired glucose metabolismVitamin D testingElderly normal individualsAbility of patientsAccelerated osteoarthritisAdult patientsPediatric patientsSerum levelsFactor 23Metabolic abnormalitiesAbnormal biomechanicsInsulin levelsAerobic exerciseInsulin sensitivityPathogenic role
2020
Effects of Iron Isomaltoside vs Ferric Carboxymaltose on Hypophosphatemia in Iron-Deficiency Anemia
Wolf M, Rubin J, Achebe M, Econs MJ, Peacock M, Imel EA, Thomsen LL, Carpenter TO, Weber T, Brandenburg V, Zoller H. Effects of Iron Isomaltoside vs Ferric Carboxymaltose on Hypophosphatemia in Iron-Deficiency Anemia. JAMA 2020, 323: 432-443. PMID: 32016310, PMCID: PMC7042864, DOI: 10.1001/jama.2019.22450.Peer-Reviewed Original ResearchConceptsIron deficiency anemiaFerric carboxymaltoseIncidence of hypophosphatemiaIron isomaltosideDay 0Oral ironBone homeostasisCommon adverse drug reactionsFibroblast growth factor 23Trial ABiomarkers of mineralIntravenous iron isomaltosideRisk of hypophosphatemiaPrimary end pointReduced kidney functionGrowth factor 23Adverse drug reactionsIntravenous ironSerum phosphateFactor 23Kidney functionParathyroid hormoneRandomized trialsClinic sitesDrug reactions
2018
A Randomized, Double‐Blind, Placebo‐Controlled, Phase 3 Trial Evaluating the Efficacy of Burosumab, an Anti‐FGF23 Antibody, in Adults With X‐Linked Hypophosphatemia: Week 24 Primary Analysis
Insogna KL, Briot K, Imel EA, Kamenický P, Ruppe MD, Portale AA, Weber T, Pitukcheewanont P, Cheong HI, de Beur S, Imanishi Y, Ito N, Lachmann RH, Tanaka H, Perwad F, Zhang L, Chen C, Theodore‐Oklota C, Mealiffe M, San Martin J, Carpenter TO, Investigators O. A Randomized, Double‐Blind, Placebo‐Controlled, Phase 3 Trial Evaluating the Efficacy of Burosumab, an Anti‐FGF23 Antibody, in Adults With X‐Linked Hypophosphatemia: Week 24 Primary Analysis. Journal Of Bone And Mineral Research 2018, 33: 1383-1393. PMID: 29947083, DOI: 10.1002/jbmr.3475.Peer-Reviewed Original ResearchConceptsTreatment-related serious adverse eventsMean serum phosphate concentrationWOMAC physical function subscaleFibroblast growth factor 23Intact parathyroid hormoneSerious adverse eventsPhase 3 trialPhysical function subscaleChronic musculoskeletal painGrowth factor 23Serum phosphate concentrationRenal phosphate wastingHuman monoclonal antibodyLower limb deformitiesImportant medical needStiffness subscalePlacebo groupUrine calciumWorst painAdverse eventsWeek 24Dental abscessMusculoskeletal painFactor 23Function subscale
2016
An Unusual Case of Rickets and How Whole Exome Sequencing Helped to Correct a Diagnosis
Peter P, Brownstein C, Yao G, Olear E, Simpson C, Agrawal P, Carpenter T, Insogna K. An Unusual Case of Rickets and How Whole Exome Sequencing Helped to Correct a Diagnosis. AACE Clinical Case Reports 2016, 2: ee278-ee283. DOI: 10.4158/ep15944.cr.Peer-Reviewed Original ResearchWhole-exome sequencingForms of ricketsExome sequencingGrowth factor 23Classic clinical featuresClinical suspicionClinical featuresClinical presentationFactor 23Parathyroid hormoneDihydroxyvitamin D3Correct diagnosisMistaken diagnosisUnusual caseNutritional deficienciesRicketsPatientsDiagnosisDiseaseHypophosphatemiaGenetic defectsCompound heterozygotesCYP27B1Gene sequencing technologyXLH
2015
Prolonged Correction of Serum Phosphorus in Adults With X-Linked Hypophosphatemia Using Monthly Doses of KRN23
Imel EA, Zhang X, Ruppe MD, Weber TJ, Klausner MA, Ito T, Vergeire M, Humphrey JS, Glorieux FH, Portale AA, Insogna K, Peacock M, Carpenter TO. Prolonged Correction of Serum Phosphorus in Adults With X-Linked Hypophosphatemia Using Monthly Doses of KRN23. The Journal Of Clinical Endocrinology & Metabolism 2015, 100: 2565-2573. PMID: 25919461, PMCID: PMC4495171, DOI: 10.1210/jc.2015-1551.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAntibodies, MonoclonalAntibodies, Monoclonal, HumanizedDose-Response Relationship, DrugDrug Administration ScheduleFamilial Hypophosphatemic RicketsFemaleFibroblast Growth Factor-23Fibroblast Growth FactorsGlomerular Filtration RateHumansImmunoglobulin GMaleMiddle AgedPhosphorusRecombinant ProteinsTreatment OutcomeYoung AdultConceptsTmP/GFRSerum PiNormal rangeOpen-label phase 1/2 studyElevated fibroblast growth factor 23Fibroblast growth factor 23Phase 1/2 studyDose-escalation studyGlomerular filtration ratePre-dose levelsGrowth factor 23Favorable safety profileMain outcome measuresProportion of subjectsAcademic medical centerPeak PiSerum inorganic phosphorusPg/mLUrinary calciumDose escalationFactor 23Monthly dosesSerum phosphorusDihydroxyvitamin DSafety profile
2013
Exome sequencing reveals FAM20c mutations associated with fibroblast growth factor 23–related hypophosphatemia, dental anomalies, and ectopic calcification
Rafaelsen SH, Ræder H, Fagerheim AK, Knappskog P, Carpenter TO, Johansson S, Bjerknes R. Exome sequencing reveals FAM20c mutations associated with fibroblast growth factor 23–related hypophosphatemia, dental anomalies, and ectopic calcification. Journal Of Bone And Mineral Research 2013, 28: 1378-1385. PMID: 23325605, DOI: 10.1002/jbmr.1850.Peer-Reviewed Original ResearchConceptsFibroblast growth factor 23Growth factor 23Factor 23Dental anomaliesExome sequencingAbsence of ricketsFAM20C mutationsCompound heterozygous mutationsWhole-exome sequencingIntracerebral calcificationsFGF23 levelsFamilial hypophosphatemiaHypophosphatemic ricketsEctopic calcificationHypophosphatemiaPutative new mechanismsType 1Heterozygous mutationsUndiagnosed probandsLong bonesNorwegian populationCausal roleHuman subjectsSequence similarity 20Rickets
2009
Increased Bone Volume and Correction of HYP Mouse Hypophosphatemia in the Klotho/HYP Mouse
Brownstein CA, Zhang J, Stillman A, Ellis B, Troiano N, Adams DJ, Gundberg CM, Lifton RP, Carpenter TO. Increased Bone Volume and Correction of HYP Mouse Hypophosphatemia in the Klotho/HYP Mouse. Endocrinology 2009, 151: 492-501. PMID: 19952276, PMCID: PMC2817612, DOI: 10.1210/en.2009-0564.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsCalciumCrosses, GeneticDNA PrimersDNA-Binding ProteinsFamilial Hypophosphatemic RicketsFemaleFemurFibroblast Growth Factor-23Genetic Diseases, X-LinkedGenotypeGlucuronidaseHeterozygoteHomozygoteHumansKlotho ProteinsMaleMiceMice, KnockoutNuclear ProteinsPolymerase Chain ReactionTibiaTomography, X-Ray ComputedTranscription FactorsConceptsTrabecular bone densityHyp miceBone densityGreater trabecular bone volume fractionFibroblast growth factor 23Serum PTH levelsDihydroxyvitamin D levelsGrowth factor 23Vitamin D metabolismTrabecular bone volume fractionDouble knockout miceKlotho null miceFGF23 effectsKlotho lossPhosphaturic activityPTH levelsFGF23 actionFGF23 levelsBone volume fractionFactor 23D metabolismD levelsFGF receptor 1Osteoid volumeBone volume