2022
The efficacy and safety of burosumab in two patients with cutaneous skeletal hypophosphatemia syndrome
Sugarman J, Maruri A, Hamilton D, Tabatabai L, Luca D, Cimms T, Krolczyk S, Roberts M, Carpenter T. The efficacy and safety of burosumab in two patients with cutaneous skeletal hypophosphatemia syndrome. Bone 2022, 166: 116598. PMID: 36341949, DOI: 10.1016/j.bone.2022.116598.Peer-Reviewed Original ResearchConceptsCutaneous skeletal hypophosphatemia syndromeTumor-induced osteomalaciaBurosumab therapyDaily dosesMild injection site reactionsActive vitamin D analoguesExtra-cutaneous manifestationsMore daily dosesMultiple daily dosesSafety of burosumabTreatment of XLHDihydroxyvitamin D levelsInjection site reactionsCurrent treatment optionsLow serum phosphorusPromising therapeutic optionVitamin D analogsHuman monoclonal antibodyOral phosphorusAdult patientsAdverse eventsBone healthSerum phosphorusTherapeutic optionsD levels
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
2019
Severity of reduced bone mineral density and risk of fractures in long‐term survivors of childhood leukemia and lymphoma undergoing guideline‐recommended surveillance for bone health
Bloomhardt HM, Sint K, Ross WL, Rotatori J, Ness K, Robinson C, Carpenter TO, Chow EJ, Kadan‐Lottick N. Severity of reduced bone mineral density and risk of fractures in long‐term survivors of childhood leukemia and lymphoma undergoing guideline‐recommended surveillance for bone health. Cancer 2019, 126: 202-210. PMID: 31536650, DOI: 10.1002/cncr.32512.Peer-Reviewed Original ResearchConceptsLow bone mineral densityReduced bone mineral densityBone mineral densityLymphoma survivorsMineral densityLumbar spine BMD Z-scoreChildhood leukemia/lymphomaPatient/treatment factorsSpine BMD Z-scoreDual-energy X-ray absorptiometryGuideline-recommended surveillanceBMD Z-scoresLong-term survivorsRisk of fractureCross-sectional studyLeukemia/lymphomaLong bone fracturesX-ray absorptiometrySurvivorship clinicBone healthMultivariable analysisMean ageChronic conditionsMedical recordsWhite raceContinued Beneficial Effects of Burosumab in Adults with X-Linked Hypophosphatemia: Results from a 24-Week Treatment Continuation Period After a 24-Week Double-Blind Placebo-Controlled Period
Portale AA, Carpenter TO, Brandi ML, Briot K, Cheong HI, Cohen-Solal M, Crowley R, Jan De Beur S, Eastell R, Imanishi Y, Imel EA, Ing S, Ito N, Javaid M, Kamenicky P, Keen R, Kubota T, Lachmann R, Perwad F, Pitukcheewanont P, Ralston SH, Takeuchi Y, Tanaka H, Weber TJ, Yoo HW, Zhang L, Theodore-Oklota C, Mealiffe M, San Martin J, Insogna K. Continued Beneficial Effects of Burosumab in Adults with X-Linked Hypophosphatemia: Results from a 24-Week Treatment Continuation Period After a 24-Week Double-Blind Placebo-Controlled Period. Calcified Tissue International 2019, 105: 271-284. PMID: 31165191, DOI: 10.1007/s00223-019-00568-3.Peer-Reviewed Original ResearchConceptsWeek 48Adverse eventsWeek 24Sustained improvementTreatment-related serious adverse eventsOpen-label treatment periodSafety of burosumabDouble-blind placeboFatal adverse eventsSerious adverse eventsSerum phosphorus levelsPatient-reported outcomesSerum phosphorus concentrationRenal phosphate wastingHuman monoclonal antibodyContinued beneficial effectsHealing of fracturesRare genetic disorderMusculoskeletal morbidityPhysical functionContinuation periodMusculoskeletal impairmentsPhosphate wastingTreatment periodBurosumab
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 subscaleThree-Month Randomized Clinical Trial of Nasal Calcitonin in Adults with X-linked Hypophosphatemia
Sullivan R, Abraham A, Simpson C, Olear E, Carpenter T, Deng Y, Chen C, Insogna KL. Three-Month Randomized Clinical Trial of Nasal Calcitonin in Adults with X-linked Hypophosphatemia. Calcified Tissue International 2018, 102: 666-670. PMID: 29383408, PMCID: PMC5957766, DOI: 10.1007/s00223-017-0382-0.Peer-Reviewed Original ResearchConceptsLevels of FGF23Nasal salmon calcitoninSalmon calcitoninStudy drugVisit 2Day 2Levels of PTHPrincipal outcome variableTmP/GFRSingle subcutaneous dosePlacebo nasal sprayNasal calcitoninSerum calciumSubcutaneous doseVisit 4Dihydroxyvitamin DSerum phosphorusVisit 3Final doseVisit 1Nasal sprayClinical trialsSerial measurementsDrug doseFGF23 production
2015
Conventional Therapy in Adults With X-Linked Hypophosphatemia: Effects on Enthesopathy and Dental Disease
Connor J, Olear EA, Insogna KL, Katz L, Baker S, Kaur R, Simpson CA, Sterpka J, Dubrow R, Zhang JH, Carpenter TO. Conventional Therapy in Adults With X-Linked Hypophosphatemia: Effects on Enthesopathy and Dental Disease. The Journal Of Clinical Endocrinology & Metabolism 2015, 100: 3625-3632. PMID: 26176801, PMCID: PMC4596038, DOI: 10.1210/jc.2015-2199.Peer-Reviewed Original ResearchConceptsSevere dental diseaseHospital research unitDental diseaseDisease severityXLH patientsMajor long-term morbidityActive vitamin D metaboliteAdult XLH patientsLong-term morbidityVitamin D metabolitesAdult lifeMultiple logistic regressionRadiographic skeletal surveySignificant predictorsProportion of adultsConventional therapyD metabolitesSkeletal surveyLower riskExposure variablesLogistic regressionDiseaseEnthesopathySkeletal deformitiesTreatment variablesContemporary Medical and Surgical Management of X-linked Hypophosphatemic Rickets
Sharkey MS, Grunseich K, Carpenter TO. Contemporary Medical and Surgical Management of X-linked Hypophosphatemic Rickets. Journal Of The American Academy Of Orthopaedic Surgeons 2015, 23: 433-442. PMID: 26040953, DOI: 10.5435/jaaos-d-14-00082.Peer-Reviewed Original ResearchConceptsBony deformityProgressive bony deformityCornerstone of treatmentCareful surgical planningOrthopedic surgical proceduresMedical therapyMedical managementSurgical managementGradual correctionSurgical techniqueDeformity correctionSurgical proceduresBone deformitiesHypophosphatemic ricketsMedical treatmentRenal phosphateHypophosphatemiaContemporary medicalBone pathologySuccessful correctionSurgical planningDeformityInheritable disorderTreatmentAdultsProlonged 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
2014
Effect of Paricalcitol on Circulating Parathyroid Hormone in X-Linked Hypophosphatemia: A Randomized, Double-Blind, Placebo-Controlled Study
Carpenter TO, Olear EA, Zhang JH, Ellis BK, Simpson CA, Cheng D, Gundberg CM, Insogna KL. Effect of Paricalcitol on Circulating Parathyroid Hormone in X-Linked Hypophosphatemia: A Randomized, Double-Blind, Placebo-Controlled Study. The Journal Of Clinical Endocrinology & Metabolism 2014, 99: 3103-3111. PMID: 25029424, PMCID: PMC4154090, DOI: 10.1210/jc.2014-2017.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAgedAlkaline PhosphataseBone Density Conservation AgentsChildDouble-Blind MethodErgocalciferolsFamilial Hypophosphatemic RicketsFemaleFibroblast Growth Factor-23Fibroblast Growth FactorsHumansHyperparathyroidismMaleMiddle AgedParathyroid HormonePhosphorusPlacebosProspective StudiesTreatment OutcomeVitamin DYoung AdultConceptsRenal phosphate thresholdGlomerular filtration rateBone scanSerum phosphorusFiltration rateXLH patientsEffect of paricalcitolUse of paricalcitolPlacebo-treated subjectsElevated PTH levelsSerum calcium levelsSuppression of PTHHospital research unitSerum alkaline phosphatase activityPTH levelsCreatinine levelsSecondary outcomesStandard therapyUrinary calciumPlacebo subjectsParathyroid hormoneSerum calciumAlkaline phosphatase activityD levelsSkeletal improvementMutations in SLC34A3/NPT2c Are Associated with Kidney Stones and Nephrocalcinosis
Dasgupta D, Wee MJ, Reyes M, Li Y, Simm PJ, Sharma A, Schlingmann KP, Janner M, Biggin A, Lazier J, Gessner M, Chrysis D, Tuchman S, Baluarte HJ, Levine MA, Tiosano D, Insogna K, Hanley DA, Carpenter TO, Ichikawa S, Hoppe B, Konrad M, Sävendahl L, Munns CF, Lee H, Jüppner H, Bergwitz C. Mutations in SLC34A3/NPT2c Are Associated with Kidney Stones and Nephrocalcinosis. Journal Of The American Society Of Nephrology 2014, 25: 2366-2375. PMID: 24700880, PMCID: PMC4178443, DOI: 10.1681/asn.2013101085.Peer-Reviewed Original ResearchConceptsIdiopathic hypercalciuriaDecreased tubular reabsorption of phosphateIncreased risk of kidney stone formationSerum 1,25(OH)2 vitamin DTubular reabsorption of phosphateAssociated with kidney stonesVitamin D levelsSolute carrier family 34Renal phosphate wastingDecreased serum phosphateHereditary hypophosphatemic ricketsHealthy family membersReabsorption of phosphateRisk of kidney stone formationRickets/osteomalaciaDecreased tubular reabsorptionKidney stone formationSLC34A3 mutationsIndependent of genotypeMedullary nephrocalcinosisSerum phosphateVitamin DDependent phosphate cotransporterTubular reabsorptionD levelsRandomized trial of the anti-FGF23 antibody KRN23 in X-linked hypophosphatemia
Carpenter TO, Imel EA, Ruppe MD, Weber TJ, Klausner MA, Wooddell MM, Kawakami T, Ito T, Zhang X, Humphrey J, Insogna KL, Peacock M. Randomized trial of the anti-FGF23 antibody KRN23 in X-linked hypophosphatemia. Journal Of Clinical Investigation 2014, 124: 1587-1597. PMID: 24569459, PMCID: PMC3973088, DOI: 10.1172/jci72829.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAntibodies, MonoclonalAntibodies, Monoclonal, HumanizedCalciumFamilial Hypophosphatemic RicketsFemaleFibroblast Growth Factor-23Fibroblast Growth FactorsGlomerular Filtration RateHalf-LifeHumansInjections, IntravenousInjections, SubcutaneousKidney TubulesMaleMiddle AgedPhosphatesVitamin DYoung AdultConceptsTmP/GFRSerum PiParathyroid hormonePhosphate reabsorptionXLH patientsRenal tubular thresholdSerum parathyroid hormoneFavorable safety profileElevated serum FGF23Renal phosphate reabsorptionLow serum concentrationsPhosphate-regulating endopeptidaseSerum Pi concentrationFGF23 antibodySerum FGF23Dihydroxyvitamin DSafety profileTubular thresholdSingle doseSerum concentrationsKRN23Mean t1/2Potential treatmentPatientsEffect duration
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 20RicketsHeart Failure in Hypophosphatemic Rickets: Complications from High-Dose Phosphate Therapy
Sun GE, Suer O, Carpenter TO, Tan CD, Li-Ng M. Heart Failure in Hypophosphatemic Rickets: Complications from High-Dose Phosphate Therapy. Endocrine Practice 2013, 19: e8-e11. PMID: 23186962, DOI: 10.4158/ep12184.cr.Peer-Reviewed Original ResearchConceptsYears of ageHypophosphatemic ricketsPhosphate therapyTertiary hyperparathyroidismHeart failureCardiac calcificationSevere calcific coronary artery diseaseCalcific coronary artery diseaseAortic valve replacementCoronary artery calcificationCongestive heart failureCoronary artery diseaseManagement of patientsHeart valve calcificationImplantable cardioverter defibrillatorPathophysiology of calcificationCalcitriol useCardiac complicationsArtery calcificationRenal failureValve replacementArtery diseaseClinical courseAppropriate therapyHeart block
2012
Hypercalcemia in Children Receiving Pharmacologic Doses of Vitamin D
Vanstone MB, Oberfield SE, Shader L, Ardeshirpour L, Carpenter TO. Hypercalcemia in Children Receiving Pharmacologic Doses of Vitamin D. Pediatrics 2012, 129: e1060-e1063. PMID: 22412034, PMCID: PMC8194455, DOI: 10.1542/peds.2011-1663.Peer-Reviewed Original ResearchConceptsVitamin DSerum calciumPeak serum calciumResolution of hypercalcemiaWide dosing rangeElevated serum calciumVitamin D deficiencyAge-specific guidelinesAge 2 weeksAdministration of dosagesDaily dietary intakeD deficiencyDeficient ricketsPharmacologic dosesTreatment regimensD levelsHypervitaminosis DDietary intakeDosage recommendationsDose selectionDosing rangeGeneral populationPharmacologic dosingHypercalcemiaSmall children
2010
Circulating Levels of Soluble Klotho and FGF23 in X-Linked Hypophosphatemia: Circadian Variance, Effects of Treatment, and Relationship to Parathyroid Status
Carpenter TO, Insogna KL, Zhang JH, Ellis B, Nieman S, Simpson C, Olear E, Gundberg CM. Circulating Levels of Soluble Klotho and FGF23 in X-Linked Hypophosphatemia: Circadian Variance, Effects of Treatment, and Relationship to Parathyroid Status. The Journal Of Clinical Endocrinology & Metabolism 2010, 95: e352-e357. PMID: 20685863, PMCID: PMC2968736, DOI: 10.1210/jc.2010-0589.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAge FactorsAgedBone Density Conservation AgentsCalcitriolChildCircadian RhythmEnzyme-Linked Immunosorbent AssayFamilial Hypophosphatemic RicketsFemaleFibroblast Growth Factor-23Fibroblast Growth FactorsGenetic Diseases, X-LinkedGlucuronidaseHumansKlotho ProteinsMaleMiddle AgedParathyroid HormonePhosphatesVitamin DConceptsSerum KlothoSerum FGF23Higher klotho levelsHospital research unitRenal phosphate handlingAcademic medical centerEffect of treatmentFibroblast growth factorKlotho levelsPTH secretionMedical therapySoluble KlothoDihydroxyvitamin DFGF23 regulationPhosphate handlingMedical CenterFGF23KlothoXLHCircadian variationGrowth factorPTHAdultsHypophosphatemiaTherapyTreatment of X-Linked Hypophosphatemia with Calcitriol and Phosphate Increases Circulating Fibroblast Growth Factor 23 Concentrations
Imel EA, DiMeglio LA, Hui SL, Carpenter TO, Econs MJ. Treatment of X-Linked Hypophosphatemia with Calcitriol and Phosphate Increases Circulating Fibroblast Growth Factor 23 Concentrations. The Journal Of Clinical Endocrinology & Metabolism 2010, 95: 1846-1850. PMID: 20157195, PMCID: PMC2853995, DOI: 10.1210/jc.2009-1671.Peer-Reviewed Original ResearchConceptsFGF23 concentrationsXLH patientsFibroblast growth factor 23 concentrationsGrowth factor 23 concentrationsFibroblast Growth Factor 23 ExpressionComplications of therapyDihydroxyvitamin D concentrationsProspective observational studyTertiary referral centerIntact FGF23 concentrationsRoutine clinical managementOral calcitriolReferral centerClinical managementFGF23 elevationObservational studyTherapeutic effectRenal phosphateCalcitriolD concentrationsDisease severityNormal serumVivo modelTherapyMost subjects
2009
Survey of the Enthesopathy of X-Linked Hypophosphatemia and Its Characterization in Hyp Mice
Liang G, Katz LD, Insogna KL, Carpenter TO, Macica CM. Survey of the Enthesopathy of X-Linked Hypophosphatemia and Its Characterization in Hyp Mice. Calcified Tissue International 2009, 85: 235-246. PMID: 19609735, PMCID: PMC2988401, DOI: 10.1007/s00223-009-9270-6.Peer-Reviewed Original ResearchMeSH KeywordsAchilles TendonAdolescentAdultAgedAnimalsBiomarkersCalcinosisChildDisease Models, AnimalDisease ProgressionFamilial Hypophosphatemic RicketsFemaleFibroblast Growth Factor-23Fibroblast Growth FactorsGenetic Diseases, X-LinkedHumansMiceMice, Inbred C57BLMiddle AgedPatellar LigamentPhenotypeQuadriceps MuscleRadiographyRheumatic DiseasesTendinopathyTendonsYoung AdultConceptsFGF-23Fibroblast growth factor receptor 3Hyp miceMajority of patientsHigh circulating levelsPhosphate-regulating hormoneBone spur formationTendon insertion siteGrowth factor receptor 3Insertion siteLigament insertion sitesCirculating LevelsPhosphate excretionBone-forming osteoblastsHeterotopic calcificationOsteophyte formationHistological examinationMurine modelReceptor 3Spur formationHypophosphatemiaEnthesis fibrocartilageBone mineralizationBiochemical milieuMice
2008
A novel missense mutation in SLC34A3 that causes hereditary hypophosphatemic rickets with hypercalciuria in humans identifies threonine 137 as an important determinant of sodium-phosphate cotransport in NaPi-IIc
Jaureguiberry G, Carpenter TO, Forman S, Jüppner H, Bergwitz C. A novel missense mutation in SLC34A3 that causes hereditary hypophosphatemic rickets with hypercalciuria in humans identifies threonine 137 as an important determinant of sodium-phosphate cotransport in NaPi-IIc. American Journal Of Physiology. Renal Physiology 2008, 295: f371-f379. PMID: 18480181, PMCID: PMC2519180, DOI: 10.1152/ajprenal.00090.2008.Peer-Reviewed Original ResearchMeSH KeywordsAdultAllelesAnimalsBase SequenceExocytosisFamilial Hypophosphatemic RicketsFemaleHaplotypesHumansHypercalciuriaKidneyMaleMolecular Sequence DataMutation, MissenseOocytesOpossumsPhosphatesPolymorphism, Single NucleotideSodiumSodium-Phosphate Cotransporter ProteinsSodium-Phosphate Cotransporter Proteins, Type IIcThreonineXenopus laevisConceptsEncoding enhanced green fluorescent proteinHereditary hypophosphatemic ricketsNaPi-IIcSodium-phosphate cotransporterLoss of expressionAmino acid residuesSodium-phosphate cotransportGreen fluorescence proteinImportant functional roleComplete lossOpossum kidneyHypophosphatemic ricketsXenopus laevis oocytesNovel missense mutationPaternal alleleWild-typeFunctional analysisFluorescence proteinNH2 terminusAcid residuesApical patchesCompound heterozygous mutationsExpression plasmidFunctional roleRecurrent kidney stones
2007
Evaluation of bone and mineral disorders.
Ardeshirpour L, Cole DE, Carpenter TO. Evaluation of bone and mineral disorders. Pediatric Endocrinology Reviews : PER 2007, 5 Suppl 1: 584-98. PMID: 18167468.Peer-Reviewed Original ResearchConceptsParathyroid hormoneVitamin D homeostasisVitamin D metabolitesEvaluation of boneD homeostasisD metabolitesMineral disordersDiagnostic modalitiesHormonal imbalanceMetabolic diseasesDiagnostic acumenGenetic testingHereditary disorderSkeletal systemHormoneDisordersDiagnostic capabilitiesBoneConcise reviewCalciumWidespread useDiseaseImpairment