2024
Familial hypocalciuric hypercalcemia in an infant: diagnosis and management quandaries
Goldsweig B, Yilmaz R, Waikar A, Brownstein C, Carpenter T. Familial hypocalciuric hypercalcemia in an infant: diagnosis and management quandaries. Journal Of Bone And Mineral Research 2024, 39: 1406-1411. PMID: 39163488, DOI: 10.1093/jbmr/zjae137.Peer-Reviewed Original ResearchFamilial hypocalciuric hypercalcemiaCalcium-sensing receptor geneLow calcium formulaParathyroid hormoneHypocalciuric hypercalcemiaSerum calciumUrinary calcium excretionElevated serum calciumAutosomal-dominant mannerWhole-exome sequencingExtracellular calcium-sensingMonths of ageMild hyperparathyroidismPTH levelsCalcium excretionIdiopathic hypoparathyroidismNewborn girlInactivating variantsRare formPathogenic variantsDownstream signaling proteinsManagement quandaryBenign conditionsReceptor geneExome sequencing
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
Relationship of Total and Free 25-Hydroxyvitamin D to Biomarkers and Metabolic Indices in Healthy Children
Simpson CA, Zhang JH, Vanderschueren D, Fu L, Pennestri TC, Bouillon R, Cole DEC, Carpenter TO. Relationship of Total and Free 25-Hydroxyvitamin D to Biomarkers and Metabolic Indices in Healthy Children. The Journal Of Clinical Endocrinology & Metabolism 2019, 105: dgz230. PMID: 31774125, PMCID: PMC7174047, DOI: 10.1210/clinem/dgz230.Peer-Reviewed Original ResearchConceptsBody mass indexVitamin D statusParathyroid hormoneUrban-dwelling childrenD statusGC haplotypeHomeostatic model assessmentSystolic blood pressureAcademic medical centerHeathy childrenBlood pressureClinical outcomesMass indexInsulin resistanceHealthy childrenMedical CenterMetabolic indicesModel assessmentRegistration noOutcome variablesHispanic backgroundChildrenStrongest correlateInsulinAvailable assessmentsHigh dose vitamin D supplementation does not rescue bone loss following Roux-en-Y gastric bypass in female rats
Niu A, Carpenter TO, Grams JM, Bozorgmehri S, Tommasini SM, Schafer AL, Canales BK. High dose vitamin D supplementation does not rescue bone loss following Roux-en-Y gastric bypass in female rats. Bone 2019, 127: 172-180. PMID: 31226531, PMCID: PMC6708762, DOI: 10.1016/j.bone.2019.06.015.Peer-Reviewed Original ResearchConceptsCalcium/creatinine ratioVitamin D supplementationSecondary hyperparathyroidismBone lossD supplementationGastric bypassGut hormonesRYGB groupParathyroid hormoneFracture riskFemale ratsUrine calcium/creatinine ratioBone volumeUrinary calcium/creatinine ratioHigh-dose vitamin D supplementationAdequate vitamin D supplementationC-terminal telopeptide (CTX) levelsHigher serum parathyroid hormoneIU vitamin D supplementationIU vitamin D/Bone phenotypeDose vitamin D supplementationResultant secondary hyperparathyroidismVitamin D/Serum parathyroid hormone
2018
Chapter 83 The Hypocalcemic Disorders
Gafni R, Insogna K, Carpenter T. Chapter 83 The Hypocalcemic Disorders. 2018, 527-547. DOI: 10.1016/b978-0-12-809963-6.00083-3.ChaptersHypocalcemic disordersParathyroid hormoneVitamin DHypocalcemic conditionsLong-term managementPTH secretionChronic hypocalcemiaNarrow normal rangeCalciotropic hormonesFunctional etiologyClinical manifestationsVitamin D.PTH actionHomeostatic disturbancesNormal rangePhysiologic consequencesClinical scenariosHypocalcemiaMetabolic activationDisordersMolecular actionsEtiologyHormoneFunctional mechanismsTherapy
2017
CYP24A1 loss of function: Clinical phenotype of monoallelic and biallelic mutations
Carpenter TO. CYP24A1 loss of function: Clinical phenotype of monoallelic and biallelic mutations. The Journal Of Steroid Biochemistry And Molecular Biology 2017, 173: 337-340. PMID: 28093352, DOI: 10.1016/j.jsbmb.2017.01.006.Peer-Reviewed Original ResearchConceptsVitamin D metabolismD metabolismParathyroid hormoneActive vitamin D metaboliteVitamin D supplementationDietary calcium intakeIdiopathic infantile hypercalcemiaLikely disease-causing variantsVitamin D metabolitesVitamin D pathwayCalcium homeostatic systemCompound heterozygote mutationsFunction mutationsD supplementationSymptomatic hypercalcemiaCalcium intakeUnrecognized causeVitamin DCalcium metabolismD metabolitesInfantile hypercalcemiaDisease-causing variantsVariant mutationsLoss of functionActive metaboliteSingle Dose Of Bisphosphonate To Treat Infantile Hypercalcemia
Patel N, Carpenter T, Genel M. Single Dose Of Bisphosphonate To Treat Infantile Hypercalcemia. AACE Clinical Case Reports 2017, 3: e246-e250. DOI: 10.4158/ep161536.cr.Peer-Reviewed Original ResearchSubcutaneous fat necrosisSingle doseSevere hypercalcemiaDihydroxyvitamin DParathyroid hormonePTH parathyroid hormoneLife-threatening complicationsTreatment of hypercalcemiaLow calcium dietWeeks of lifePosterior upper armPg/mLAggressive hydrationTerm neonatesCalcium dietConfluent plaquesRadiologic findingsFat necrosisTreatment courseTherapeutic coolingSubsequent hypercalcemiaHypercalcemiaInfantile hypercalcemiaCalcium levelsPg/
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
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 improvementRandomized 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
2011
Demographic, dietary, and biochemical determinants of vitamin D status in inner-city children
Carpenter TO, Herreros F, Zhang JH, Ellis BK, Simpson C, Torrealba-Fox E, Kim GJ, Savoye M, Held NA, Cole D. Demographic, dietary, and biochemical determinants of vitamin D status in inner-city children. American Journal Of Clinical Nutrition 2011, 95: 137-146. PMID: 22170368, PMCID: PMC3238457, DOI: 10.3945/ajcn.111.018721.Peer-Reviewed Original ResearchConceptsParathyroid hormonePmol/LMinority infantsFormula useMeasurement of PTHSkin typeOlder childrenVitamin D insufficientVitamin D intakeVitamin D statusVitamin D fortificationAlkaline phosphatase activityDietary intake dataInner-city childrenClinical ricketsD intakeD statusSerum calciumDihydroxyvitamin DVitamin DD fortificationBlood samplesIntake dataReference rangeTotal alkaline phosphatase activity
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
2005
Relationships among Vitamin D Levels, Parathyroid Hormone, and Calcium Absorption in Young Adolescents
Abrams SA, Griffin IJ, Hawthorne KM, Gunn SK, Gundberg CM, Carpenter TO. Relationships among Vitamin D Levels, Parathyroid Hormone, and Calcium Absorption in Young Adolescents. The Journal Of Clinical Endocrinology & Metabolism 2005, 90: 5576-5581. PMID: 16076940, PMCID: PMC1283091, DOI: 10.1210/jc.2005-1021.Peer-Reviewed Original ResearchConceptsVitamin D statusCalcium absorptionD statusDihydroxyvitamin DVitamin D insufficiencyVitamin D levelsBone mineral densityCalcium absorption fractionYr of ageEffects of prebioticsD insufficiencySerum PTHPTH secretionD calciumParathyroid hormoneD levelsPediatric dataMineral densityMidpubertal boysYoung adolescentsPTHBone formationWhole bodyHigh rateAdolescents
1983
Hypoparathyroidism in Wilson's Disease
Carpenter T, Carnes D, Anast C. Hypoparathyroidism in Wilson's Disease. New England Journal Of Medicine 1983, 309: 873-877. PMID: 6888480, DOI: 10.1056/nejm198310133091501.Peer-Reviewed Original ResearchConceptsWilson's diseaseImmunoreactive parathyroid hormoneInfusion of magnesiumParathyroid insufficiencyParathyroid levelsParathyroid secretionMild hypocalcemiaParathyroid hormoneBlood levelsCitrate infusionParathyroid glandsFanconi syndromeCalcium levelsAppropriate riseNormal levelsDiseaseHypercalciuriaHyperphosphaturiaInfusionRapid reductionCalciumHypoparathyroidismHypocalcemiaHypophosphatemia