2025
Advancing patient evidence in XLH (APEX): rationale and design of a real-world XLH global data unification program
Brandi M, Carpenter T, Fukumoto S, Haffner D, Imel E, Kanematsu M, McCullough K, Ozono K. Advancing patient evidence in XLH (APEX): rationale and design of a real-world XLH global data unification program. Frontiers In Endocrinology 2025, 16: 1471127. PMID: 40260280, PMCID: PMC12009718, DOI: 10.3389/fendo.2025.1471127.Peer-Reviewed Original ResearchConceptsX-linked hypophosphatemiaRandomized clinical trialsExcessive fibroblast growth factor 23Human anti-FGF23 antibodyObservational studyPhosphate-regulating endopeptidase homologAnti-FGF23 antibodyFibroblast growth factor 23Renal phosphate wastingLong-term outcomesStudy of patientsLong-term observational studiesPatient-reported outcomesPatients evidenceOral phosphateDosing regimensBone turnoverDental healthSerum phosphateChronic hypophosphatemiaClinical decision-makingPhosphate wastingPathogenic variantsClinical trialsGastrointestinal disturbances
2024
Item Response Theory Quantifies the Relationship Between Improvements in Serum Phosphate and Patient‐Reported Outcomes in Adults With X‐Linked Hypophosphatemia
Mehta K, Gosselin N, Insogna K, Barriere O, Quattrocchi E, Hruska M, Marsteller D. Item Response Theory Quantifies the Relationship Between Improvements in Serum Phosphate and Patient‐Reported Outcomes in Adults With X‐Linked Hypophosphatemia. Clinical Pharmacology & Therapeutics 2024, 116: 1343-1351. PMID: 39129452, DOI: 10.1002/cpt.3406.Peer-Reviewed Original ResearchPatient-reported outcomesPatient-reported outcome dataX-linked hypophosphatemiaItem response theory parametersBrief Fatigue Inventory scoreSerum phosphateWestern Ontario and McMaster Universities Osteoarthritis IndexTreatment-induced improvementMcMaster Universities Osteoarthritis IndexTreatment response biomarkersBrief Pain InventoryInventory scoresAssociated with improvementsPain InventoryOsteoarthritis IndexTreatment optimization strategiesDisability scoresPopulation pharmacokinetic-pharmacodynamic modelPhase III studySerum phosphate levelsRare bone diseasesExposure metricsPharmacokinetic-pharmacodynamic modelLongitudinal dataIII studiesEarly Hypophosphatemia as a Prognostic Marker in Acute Pancreatitis
Stewart C, Adeniran E, Yadav D, Gorelick F, Liddle R, Wu B, Pandol S, Jeon C. Early Hypophosphatemia as a Prognostic Marker in Acute Pancreatitis. Pancreas 2024, 53: e611-e616. PMID: 38696363, DOI: 10.1097/mpa.0000000000002344.Peer-Reviewed Original ResearchLength of stayAcute pancreatitisMultivariate log-linear modelElectronic health records of patientsGastrointestinal-related hospitalizationsRisk factorsHealth records of patientsMultivariate logistic regression modelAssociated with length of stayUnderstanding risk factorsPrognostic markerSerum phosphateLogistic regression modelsCedars-Sinai Medical CenterAssociated with lengthAssociated with ICU admissionHours of admissionOutcome of APRecords of patientsSerum phosphate levelsLonger hospital stayMedical CenterAP admissionsRegression modelsSevere APAn update on clinical presentation and responses to therapy of patients with hereditary hypophosphatemic rickets with hypercalciuria (HHRH)
Zhu Z, Bo-Ran Ho B, Chen A, Amrhein J, Apetrei A, Carpenter T, Lazaretti-Castro M, Colazo J, McCrystal Dahir K, Geßner M, Gurevich E, Heier C, Simmons J, Hunley T, Hoppe B, Jacobsen C, Kouri A, Ma N, Majumdar S, Molin A, Nokoff N, Ott S, Peña H, Santos F, Tebben P, Topor L, Deng Y, Bergwitz C. An update on clinical presentation and responses to therapy of patients with hereditary hypophosphatemic rickets with hypercalciuria (HHRH). Kidney International 2024, 105: 1058-1076. PMID: 38364990, PMCID: PMC11106756, DOI: 10.1016/j.kint.2024.01.031.Peer-Reviewed Original ResearchResponse to therapyHereditary hypophosphatemic ricketsPathogenic variantsBone phenotypeSerum phosphateHypophosphatemic ricketsHeterozygous carriersPartial response to therapyPredicting response to therapyRare group of disordersIntact parathyroid hormoneUrine calcium excretionCorrection of hypophosphatemiaSolute carrier familyDecreased serum phosphateBaseline disease severityVariants in vitroOral phosphate supplementationNormalize serum phosphateStandard of careGroup of disordersMutant allelesCarrier familyBiochemical phenotypeKidney phenotype
2023
Mineral bone disorder in children with chronic kidney disease: Data from the KNOW-Ped CKD (Korean cohort study for outcome in patients with pediatric chronic kidney disease) study
Jung J, Lee K, Park E, Park Y, Kang H, Ahn Y, Ha I, Kim S, Cho H, Han K, Cho M, Choi H, Lee J, Shin J. Mineral bone disorder in children with chronic kidney disease: Data from the KNOW-Ped CKD (Korean cohort study for outcome in patients with pediatric chronic kidney disease) study. Frontiers In Pediatrics 2023, 11: 994979. PMID: 36873652, PMCID: PMC9982157, DOI: 10.3389/fped.2023.994979.Peer-Reviewed Original ResearchChronic kidney disease stageFractional excretion of phosphateMineral bone disorderChronic kidney diseasePediatric CKD patientsIntact parathyroid hormoneVitamin DSerum phosphateCKD patientsFGF-23Levels of 1,25-dihydroxy vitamin DUrine calcium-to-creatinine ratioMedian serum calcium levelBone disordersKidney diseaseSerum intact parathyroid hormoneCalcium to creatinine ratioChronic kidney disease stage 3bZ-scorePrevalence of hyperphosphatemiaSerum calcium levelsSerum vitamin DActive vitamin DFibroblast growth factor 23Abnormal mineral metabolism
2022
Long-term Burosumab Administration Is Safe and Effective in Adults With X-linked Hypophosphatemia
Weber TJ, Imel EA, Carpenter TO, Peacock M, Portale AA, Hetzer J, Merritt JL, Insogna K. Long-term Burosumab Administration Is Safe and Effective in Adults With X-linked Hypophosphatemia. The Journal Of Clinical Endocrinology & Metabolism 2022, 108: 155-165. PMID: 36072994, PMCID: PMC9759172, DOI: 10.1210/clinem/dgac518.Peer-Reviewed Original ResearchConceptsSerum phosphate levelsPatient-reported outcomesNormal rangeBurosumab therapyTreatment optionsEffective long-term treatment optionLong-term extension studyLong-term treatment optionNew safety findingsBone turnover markersLong-term administrationPhosphate levelsRespective normal rangesProportion of subjectsLong-term safetyLast doseAdult patientsClinical responseSafety findingsTurnover markersSerum phosphateBone biomarkersStudy endWeek 12Burosumab treatment
2021
Basal Ganglia Calcification in Hypoparathyroidism Is Associated With Low Serum Calcium/Phosphate Ratio
Zavatta G, Tebben P, Clarke B. Basal Ganglia Calcification in Hypoparathyroidism Is Associated With Low Serum Calcium/Phosphate Ratio. Journal Of The Endocrine Society 2021, 5: a255-a256. PMCID: PMC8091468, DOI: 10.1210/jendso/bvab048.519.Peer-Reviewed Original ResearchHead CT scanBasal ganglia calcificationNon-surgical hypoparathyroidismCT scanPrevalence of basal ganglia calcificationsHead CTSerum calciumAssociated with lower serum calciumCalcium x phosphate productRisk factorsAverage serum calciumComplications of hypoparathyroidismDuration of hypoparathyroidismHead CT-Scan imageLow serum calciumPost-surgical hypoparathyroidismCohort of patientsIncreased serum phosphateCardiovascular risk factorsDiagnosis of hypoparathyroidismMedical record reviewCalcium/phosphate ratioSerum phosphateCase seriesCase report
2020
Different elemental infant formulas show equivalent phosphorus and calcium bioavailability in healthy volunteers
Bergwitz C, Eussen SRBM, Janssens PLHR, Visser M, Carpenter TO, van Helvoort A. Different elemental infant formulas show equivalent phosphorus and calcium bioavailability in healthy volunteers. Nutrition Research 2020, 85: 71-83. PMID: 33450668, DOI: 10.1016/j.nutres.2020.11.004.Peer-Reviewed Original ResearchConceptsGeometric mean ratiosAcid-suppressive medicationsArea under the curveHealthy volunteersSerum phosphateCalcium bioavailabilityGastric acid-suppressive medicationsRetrospective chart reviewSerum calcium concentrationBioavailability of phosphorusCross-over studyInfant formulaElemental formula useSingle oral doseCalcium excretionDouble-blindGram of phosphorusSingle-centerChart reviewOral doseOvernight fastingSerum phosphorusBioequivalence criteriaWashout periodMean ratiosIL‐1β Drives Production of FGF‐23 at the Onset of Chronic Kidney Disease in Mice
McKnight Q, Jenkins S, Li X, Nelson T, Marlier A, Cantley LG, Finberg KE, Fretz JA. IL‐1β Drives Production of FGF‐23 at the Onset of Chronic Kidney Disease in Mice. Journal Of Bone And Mineral Research 2020, 35: 1352-1362. PMID: 32154933, PMCID: PMC7363582, DOI: 10.1002/jbmr.4003.Peer-Reviewed Original ResearchConceptsChronic kidney diseaseOnset of CKDEarly chronic kidney diseaseFGF-23 expressionFGF-23Renal dysfunctionParathyroid hormoneIL-1βCongenital chronic kidney diseaseFGF-23 levelsSerum parathyroid hormoneGlomerular capillary tuftCongenital modelSerum phosphateIron bioavailabilitySystemic elevationVitamin DInflammatory cytokinesKidney diseaseEarly biomarkersIron statusMouse modelPhosphate imbalanceInitial upregulationCapillary tuftEffects 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
Earlier Onset in Autosomal Dominant Hypophosphatemic Rickets of R179 than R176 Mutations in Fibroblast Growth Factor 23: Report of 20 Chinese Cases and Review of the Literature
Liu C, Zhao Z, Wang O, Li M, Xing X, Hsieh E, Fukumoto S, Jiang Y, Xia W. Earlier Onset in Autosomal Dominant Hypophosphatemic Rickets of R179 than R176 Mutations in Fibroblast Growth Factor 23: Report of 20 Chinese Cases and Review of the Literature. Calcified Tissue International 2019, 105: 476-486. PMID: 31486862, DOI: 10.1007/s00223-019-00597-y.Peer-Reviewed Original ResearchConceptsAutosomal dominant hypophosphatemic ricketsLower extremity deformitiesDominant hypophosphatemic ricketsExtremity deformitiesOnset ageHypophosphatemic ricketsFibroblast growth factor 23Growth factor 23Onset of diseaseRU/mLHistory of ricketsEarlier onset ageAge of onsetRare hereditary disorderPg/mLGenotype-phenotype correlationI-FGF23Symptomatic patientsFactor 23More patientsSerum phosphateClinical manifestationsLaboratory examinationsOvert symptomsMutation carriers
2014
Mutations 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 levels
2013
Longitudinal Predictors of Uremic Pruritus
Shirazian S, Kline M, Sakhiya V, Schanler M, Moledina D, Patel C, Hazzan A, Fishbane S. Longitudinal Predictors of Uremic Pruritus. Journal Of Renal Nutrition 2013, 23: 428-431. PMID: 24209894, DOI: 10.1053/j.jrn.2013.08.002.Peer-Reviewed Original ResearchConceptsIntact parathyroid hormoneCalcium-phosphate productParathyroid hormoneUremic pruritusSerum calciumSerum phosphateSerum phosphorusElevated serum phosphorusOriginal study groupDisorders of boneHemodialysis patientsPlacebo treatmentPruritus scoreMineral diseaseStudy groupPruritusBone indicatorsSignificant predictorsPatientsMineral statusBoneWeeksLongitudinal predictorsPredictorsCommon problem
1992
A prospective trial of phosphate and 1,25-dihydroxyvitamin D3 therapy in symptomatic adults with X-linked hypophosphatemic rickets
Sullivan W, Carpenter T, Glorieux F, Travers R, Insogna K. A prospective trial of phosphate and 1,25-dihydroxyvitamin D3 therapy in symptomatic adults with X-linked hypophosphatemic rickets. The Journal Of Clinical Endocrinology & Metabolism 1992, 75: 879-885. PMID: 1517380, DOI: 10.1210/jcem.75.3.1517380.Peer-Reviewed Original ResearchConceptsSymptomatic adultsOral phosphateOsteoid volumeCessation of therapyUrinary calcium excretionSymptomatic adult patientsMean serum phosphateDihydroxyvitamin D3 therapyMineral apposition rateCalcium excretionD3 therapyRenal insufficiencyTertiary hyperparathyroidismAdult patientsDrug regimenJoint painMost patientsPretreatment serumProspective trialClinical courseSerum phosphateSymptom scoresBone biopsyCombined administrationCurrent treatment
1981
Effect of Age on Serum Immunoreactive Parathyroid Hormone and Its Biological Effects*
INSOGNA K, LEWIS A, LIPINSKI B, BRYANT C, BARAN D. Effect of Age on Serum Immunoreactive Parathyroid Hormone and Its Biological Effects*. The Journal Of Clinical Endocrinology & Metabolism 1981, 53: 1072-1075. PMID: 6270181, DOI: 10.1210/jcem-53-5-1072.Peer-Reviewed Original ResearchConceptsIPTH levelsElderly subjectsTubular maximum phosphate reabsorptionImmunoreactive parathyroid hormone levelsSerum immunoreactive parathyroid hormoneImmunoreactive parathyroid hormoneParathyroid hormone levelsBiological effectsCreatinine clearanceEffect of ageNephrogenous cAMPUrinary calciumCreatinine ratioSerum phosphateParathyroid hormoneBone lossCalcium ingestionBone resorptionPhosphate reabsorptionHormone levelsHealthy volunteersSignificant negative correlationSignificant positive correlationIPTHOlder volunteers
1974
Pseudohyperparathyroidism in head and neck tumors
Ariyan S, Farber L, Hamilton B, Papac R. Pseudohyperparathyroidism in head and neck tumors. Cancer 1974, 33: 159-166. PMID: 4810091, DOI: 10.1002/1097-0142(197401)33:1<159::aid-cncr2820330124>3.0.co;2-q.Peer-Reviewed Original ResearchConceptsTriad of hypercalcemiaRelief of symptomsSerum calcium levelsGastrointestinal complaintsBone metastasesClinical courseSerum phosphateSymptomatic reliefWidespread tumorSerum calciumConsequent symptomsNeck cancerNeck tumorsPostmortem examinationCalcium levelsSide effectsAdvanced stageNeck regionPseudohyperparathyroidismHypercalcemiaPatientsTerminal eventSymptomsTumorsTreatment
This site is protected by hCaptcha and its Privacy Policy and Terms of Service apply