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
2008
A Patient With Hypophosphatemia, a Femoral Fracture, and Recurrent Kidney Stones: Report of a Novel Mutation in SLC34A3
Page K, Bergwitz C, Jaureguiberry G, Harinarayan CV, Insogna K. A Patient With Hypophosphatemia, a Femoral Fracture, and Recurrent Kidney Stones: Report of a Novel Mutation in SLC34A3. Endocrine Practice 2008, 14: 869-874. PMID: 18996815, PMCID: PMC2773288, DOI: 10.4158/ep.14.7.869.Peer-Reviewed Original ResearchConceptsSLC34A3 geneClinical presentationNovel mutationsHistory of flank painMissense mutationsPatient's unusual clinical presentationUnusual clinical presentationPatient's clinical courseAtypical clinical presentationHereditary hypophosphatemic ricketsTreated with calcitriolRecurrent kidney stonesDisorder associated with mutationsGenomic DNA samplesStress fracturesSLC34A3 mutationsFlank painRecurrent nephrolithiasisInsufficiency fracturesClinical courseClinical improvementNaPi-IIcHypophosphatemic ricketsCompound heterozygotesGenetic analysis
1996
24,25 Dihydroxyvitamin D supplementation corrects hyperparathyroidism and improves skeletal abnormalities in X-linked hypophosphatemic rickets--a clinical research center study
Carpenter TO, Keller M, Schwartz D, Mitnick M, Smith C, Ellison A, Carey D, Comite F, Horst R, Travers R, Glorieux FH, Gundberg CM, Poole AR, Insogna KL. 24,25 Dihydroxyvitamin D supplementation corrects hyperparathyroidism and improves skeletal abnormalities in X-linked hypophosphatemic rickets--a clinical research center study. The Journal Of Clinical Endocrinology & Metabolism 1996, 81: 2381-2388. PMID: 8964881, DOI: 10.1210/jcem.81.6.8964881.Peer-Reviewed Original ResearchConceptsD3 supplementationStandard treatmentSkeletal lesionsClinical research center studyCorrection of hyperparathyroidismImprovement of ricketsPlacebo-controlled trialD supplementationRachitic abnormalitiesNephrogenous cAMPPTH secretionStandard therapyPTH valuesSerum phosphorusCenter studyRadiographic featuresBone biopsyOsteoid surfaceBone diseaseMurine modelHypophosphatemic ricketsUseful adjunctCalcium homeostasisHyperparathyroidismXLH
1994
Nocturnal hyperparathyroidism: a frequent feature of X-linked hypophosphatemia
Carpenter TO, Mitnick MA, Ellison A, Smith C, Insogna KL. Nocturnal hyperparathyroidism: a frequent feature of X-linked hypophosphatemia. The Journal Of Clinical Endocrinology & Metabolism 1994, 78: 1378-1383. PMID: 8200940, DOI: 10.1210/jcem.78.6.8200940.Peer-Reviewed Original ResearchConceptsHypophosphatemic ricketsFrequency of hyperparathyroidismMean iPTH valueNephrogenous cAMP excretionPathogenesis of nephrocalcinosisInitiation of therapyVitamin D preparationsGroup of patientsOnset of treatmentExaggerated secretionParathyroid statusIPTH valuesTertiary hyperparathyroidismParathyroid functionUntreated patientsOccasional complicationCAMP excretionHyperparathyroidismPhosphopenic ricketsD preparationsPatientsControl individualsRicketsIntact hormoneNocturnal rise
1983
Impaired phosphorus conservation and 1,25 dihydroxyvitamin D generation during phosphorus deprivation in familial hypophosphatemic rickets.
Insogna KL, Broadus AE, Gertner JM. Impaired phosphorus conservation and 1,25 dihydroxyvitamin D generation during phosphorus deprivation in familial hypophosphatemic rickets. Journal Of Clinical Investigation 1983, 71: 1562-1569. PMID: 6306051, PMCID: PMC370362, DOI: 10.1172/jci110912.Peer-Reviewed Original ResearchConceptsFamilial hypophosphatemic ricketsNormal subjectsHypophosphatemic ricketsImmunoreactive parathyroid hormone levelsD plasma levelsNephrogenous cyclic AMPParathyroid hormone levelsGlomerular filtration rateDietary phosphorus deprivationHealthy male volunteersTubular reabsorptive capacityLow phosphorus dietCyclic AMP measurementsMale patientsRenal responseFiltration ratePlasma levelsHormone levelsAbnormal responseMale volunteersReabsorptive capacityPatientsPhosphorus intakePhosphorus dietPhosphate conservation
1981
Impaired response to acute phosphorus (P) deprivation in familial hypophosphatemic rickets (HR)
Gertner J, Insogna K. Impaired response to acute phosphorus (P) deprivation in familial hypophosphatemic rickets (HR). Pediatric Research 1981, 15: 1542-1542. DOI: 10.1203/00006450-198112000-00045.Peer-Reviewed Original Research