2020
New Therapies for Hypophosphatemia-Related to FGF23 Excess
Athonvarangkul D, Insogna KL. New Therapies for Hypophosphatemia-Related to FGF23 Excess. Calcified Tissue International 2020, 108: 143-157. PMID: 32504139, DOI: 10.1007/s00223-020-00705-3.BooksConceptsTumor-induced osteomalaciaCutaneous skeletal hypophosphatemia syndromeEpidermal nevus syndromeAutosomal dominant hypophosphatemic ricketsAutosomal recessive hypophosphatemic ricketsHypophosphatemic ricketsForms of FGF23Treatment of XLHActive comparator trialsMainstay of therapyMonoclonal blocking antibodyNew treatment modalitiesMcCune-Albright syndromeRenal phosphate wastingRecessive hypophosphatemic ricketsDominant hypophosphatemic ricketsFGF23 excessComparator trialsSkeletal complicationsChronic hypophosphatemiaMusculoskeletal syndromeOngoing trialsClinical presentationTreatment modalitiesClinical trials
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
2017
Iron Replacement as A Therapeutic Approach For Renal Phosphate Wasting With Associated Iron Deficiency
Kumar A, Wermers R, Tebben P. Iron Replacement as A Therapeutic Approach For Renal Phosphate Wasting With Associated Iron Deficiency. AACE Clinical Case Reports 2017, 3: e260-e263. DOI: 10.4158/ep161330.cr.Peer-Reviewed Case Reports and Technical NotesAutosomal dominant hypophosphatemic ricketsTumor-induced osteomalaciaRenal phosphate wastingIron replacementIron deficiencyPhosphate wastingHypophosphatemic ricketsClinical improvementWeeks of iron therapyAutosomal recessive hypophosphatemic ricketsProgressive clinical improvementX-linked hypophosphatemic ricketsFibroblast growth factor 23Worsening muscle weaknessPotential treatment optionCalcitriol therapyHypophosphatemic osteomalaciaIron therapyDiffuse painFractional excretionTreatment optionsElevated FGF23Family historyProgressive weaknessFibroblast growth factor
2012
Chapter 26 Familial Hypophosphatemia and Related Disorders
Holm I, Econs M, Carpenter T. Chapter 26 Familial Hypophosphatemia and Related Disorders. 2012, 699-726. DOI: 10.1016/b978-0-12-382040-2.10026-7.Peer-Reviewed Original ResearchAutosomal dominant hypophosphatemic ricketsTumor-induced osteomalaciaRelated disordersClinical featuresHypophosphatemic ricketsPathophysiology of XLHLong-term morbidityDevelopment of ricketsDegenerative joint diseaseHereditary hypophosphatemic ricketsCommon bone diseaseDominant hypophosphatemic ricketsFGF-23Joint painDental abscessDihydroxyvitamin DAvailable therapiesFamilial hypophosphatemiaHypophosphatemic diseasesDental diseaseJoint diseaseBone diseaseChronic featuresTherapeutic approachesRenal phosphateFGF23 and Syndromes of Abnormal Renal Phosphate Handling
Bergwitz C, Jüppner H. FGF23 and Syndromes of Abnormal Renal Phosphate Handling. Advances In Experimental Medicine And Biology 2012, 728: 41-64. PMID: 22396161, PMCID: PMC5234086, DOI: 10.1007/978-1-4614-0887-1_3.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsLoss-of-function mutationsParathyroid hormoneAutosomal dominant hypophosphatemic ricketsDentin matrix protein 1Ecto-nucleotide pyrophosphatase/phosphodiesterase 1O-glycosylation of FGF23Hypophosphatemic ricketsAbnormal renal phosphate handlingImpaired O-glycosylationFibroblast growth factor 23Hormonal bone-parathyroid-kidney axisGrowth factor 23Serum phosphate levelsRenal phosphate excretionRenal phosphate handlingFamilial hyperphosphatemic tumoral calcinosisSodium-phosphate cotransporters NaPi-IIaHereditary hypophosphatemic ricketsHyperphosphatemic tumoral calcinosisIncreased serum phosphate levelsFunction mutationsPhosphate-regulating geneRare genetic disorderCotransporter NaPi-IIaDominant hypophosphatemic rickets
2003
Chapter 25 Familial Hypophosphatemia and Related Disorders
Holm I, Econs M, Carpenter T. Chapter 25 Familial Hypophosphatemia and Related Disorders. 2003, 603-xvi. DOI: 10.1016/b978-012286551-0/50027-0.Peer-Reviewed Original ResearchAutosomal dominant hypophosphatemic ricketsTumor-induced osteomalaciaRelated disordersHypophosphatemic ricketsPathophysiology of XLHDevelopment of ricketsDegenerative joint diseaseHereditary hypophosphatemic ricketsCommon bone diseaseJoint painDental abscessClinical featuresDihydroxyvitamin DFamilial hypophosphatemiaHypophosphatemic diseasesDental diseaseJoint diseaseBone diseaseRenal phosphateEndopeptidase PHEXShort statureHypophosphatemiaXLHDiseaseRickets
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