2017
Rickets
Carpenter TO, Shaw NJ, Portale AA, Ward LM, Abrams SA, Pettifor JM. Rickets. Nature Reviews Disease Primers 2017, 3: 17101. PMID: 29265106, DOI: 10.1038/nrdp.2017.101.Peer-Reviewed Original ResearchConceptsVitamin D metabolismNutritional ricketsD metabolismVitamin DFibroblast growth factor 23 productionAbnormal serum calciumActivated vitamin DOral phosphate supplementationVitamin D supplementationRenal phosphate handlingVitamin D metabolitesAge of onsetDarker skin typesD supplementationFGF23 antibodyClinical presentationSerum calciumPhysical examinationD metabolitesMedical historyPhosphate handlingBone diseasePhosphopenic ricketsPhosphate supplementationConventional treatmentUnexpected 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
2008
A translocation causing increased α-Klotho level results in hypophosphatemic rickets and hyperparathyroidism
Brownstein CA, Adler F, Nelson-Williams C, Iijima J, Li P, Imura A, Nabeshima Y, Reyes-Mugica M, Carpenter TO, Lifton RP. A translocation causing increased α-Klotho level results in hypophosphatemic rickets and hyperparathyroidism. Proceedings Of The National Academy Of Sciences Of The United States Of America 2008, 105: 3455-3460. PMID: 18308935, PMCID: PMC2265125, DOI: 10.1073/pnas.0712361105.Peer-Reviewed Original ResearchConceptsHypophosphatemic ricketsAlpha-KlothoExcessive renal lossPhosphate levelsParathyroid massRenal failureRenal osteodystrophyFGF23 levelsMajor complicationsParathyroid hyperplasiaKidney failureRenal lossBeta-glucuronidase activityNormal responseHyperparathyroidismEnergy homeostasisRicketsBone formationSkeletal abnormalitiesPhysiologic processesPhosphate homeostasisHyperphosphatemiaPatientsHyperplasiaBone defects
2005
Hypophosphatemia leads to rickets by impairing caspase-mediated apoptosis of hypertrophic chondrocytes
Sabbagh Y, Carpenter TO, Demay MB. Hypophosphatemia leads to rickets by impairing caspase-mediated apoptosis of hypertrophic chondrocytes. Proceedings Of The National Academy Of Sciences Of The United States Of America 2005, 102: 9637-9642. PMID: 15976027, PMCID: PMC1172249, DOI: 10.1073/pnas.0502249102.Peer-Reviewed Original ResearchConceptsParathyroid hormone levelsMineral ion homeostasisRachitic changesHormone levelsAbnormal mineral ion homeostasisDihydroxyvitamin D levelsVitamin D deficiencyDegree of hypophosphatemiaHypertrophic chondrocyte layerVitamin D receptorHypertrophic chondrocytesNormal phosphorus levelsGrowth plate maturationD deficiencyD levelsNormal calciumD receptorChondrocyte layerHypophosphatemiaVDR actionChondrocyte apoptosisNull miceRicketsCaspase-mediated apoptosisHypercalcemia
2003
Nutritional Rickets with Normal Circulating 25-Hydroxyvitamin D: A Call for Reexamining the Role of Dietary Calcium Intake in North American Infants
DeLucia MC, Mitnick ME, Carpenter TO. Nutritional Rickets with Normal Circulating 25-Hydroxyvitamin D: A Call for Reexamining the Role of Dietary Calcium Intake in North American Infants. The Journal Of Clinical Endocrinology & Metabolism 2003, 88: 3539-3545. PMID: 12915633, DOI: 10.1210/jc.2002-021935.Peer-Reviewed Original ResearchConceptsDietary calcium intakeNutritional ricketsCalcium intakeNorth American infantsAmerican infantsLow dietary calcium intakeOptimal dietary practicesVitamin D supplementationVitamin D deficiencyVitamin D therapyGreater New HavenD supplementationRachitic abnormalitiesD deficiencyD therapyDevelopment of diseaseVitamin DMean ageRepresentative case historiesBiochemical resolutionDietary practicesRicketsContributory roleMiddle Eastern descentInfants
2002
Variable Degrees of 1-α Hydroxylase Activity—Fine Tuning the Rachitic Rheostat
Carpenter T. Variable Degrees of 1-α Hydroxylase Activity—Fine Tuning the Rachitic Rheostat. The Journal Of Clinical Endocrinology & Metabolism 2002, 87: 2421-2423. PMID: 12050192, DOI: 10.1210/jcem.87.6.8685.Peer-Reviewed Original Research
1989
Hypercalciuric hypophosphatemic rickets, mineral balance, bone histomorphometry, and therapeutic implications of hypercalciuria.
Chen C, Carpenter T, Steg N, Baron R, Anast C. Hypercalciuric hypophosphatemic rickets, mineral balance, bone histomorphometry, and therapeutic implications of hypercalciuria. Pediatrics 1989, 84: 276-80. PMID: 2787497, DOI: 10.1542/peds.84.2.276.Peer-Reviewed Original ResearchConceptsYears of ageHypophosphatemic ricketsDihydroxyvitamin DVitamin DHigh-dose vitamin DUrinary phosphorus excretionUrinary calcium excretionNormal serum calciumParathyroid hormone concentrationsPhosphorus therapyCalcium excretionSymptomatic nephrolithiasisAppropriate therapySerum calciumAlkaline phosphatase activitySevere ricketsBone histomorphometryHormone concentrationsIntestinal absorptionTherapeutic implicationsCardinal featuresRicketsModest dosageHypercalciuriaHypophosphatemia