2022
Hypophosphatemia: A Practical Guide to Evaluation and Management
Tebben P. Hypophosphatemia: A Practical Guide to Evaluation and Management. Endocrine Practice 2022, 28: 1091-1099. PMID: 35940468, DOI: 10.1016/j.eprac.2022.07.005.Peer-Reviewed Original ResearchMeSH KeywordsBone and BonesFibroblast Growth FactorsHumansHypophosphatemiaOsteomalaciaParathyroid HormonePhosphatesConceptsClinical manifestationsNormal phosphate homeostasisParathyroid hormoneFibroblast growth factorFunction of phosphateRange of symptomsCell membrane integrityEnzyme functionGrowth factorPhosphate balanceSkeletal mineralizationMembrane integrityChronic causesGastrointestinal tractPhosphate homeostasisDiverse rolesEnergy homeostasisHypophosphatemia
2021
Variable Clinical Presentation of Children with Hereditary Hypophosphatemic Rickets with Hypercalciuria: A Case Series and Review of the Literature
Christensen S, Tebben P, Sas D, Creo A. Variable Clinical Presentation of Children with Hereditary Hypophosphatemic Rickets with Hypercalciuria: A Case Series and Review of the Literature. Hormone Research In Paediatrics 2021, 94: 374-389. PMID: 34666334, DOI: 10.1159/000520299.Peer-Reviewed Original ResearchConceptsHereditary hypophosphatemic ricketsRenal symptomsPhosphate wastingHypophosphatemic ricketsVariable clinical presentationRenal phosphate wastingPhenotype-genotype correlationSLC34A3 mutationsUrine phosphateBone symptomsCase seriesMineralization defectRare conditionSLC34A3 variantsSerum phosphorusHHRHAccurate diagnosisUrinary stonesPatientsCombined boneHypercalciuriaLiterature reviewSymptomsSLC34A3Systematic literature review
2018
Phosphaturic mesenchymal tumors: what an endocrinologist should know
Boland J, Tebben P, Folpe A. Phosphaturic mesenchymal tumors: what an endocrinologist should know. Journal Of Endocrinological Investigation 2018, 41: 1173-1184. PMID: 29446010, DOI: 10.1007/s40618-018-0849-5.Peer-Reviewed Original ResearchConceptsTumor-induced osteomalaciaPhosphaturic mesenchymal tumorMesenchymal tumorsCase of tumor-induced osteomalaciaRare cause of osteomalaciaPhosphaturic hormone fibroblast growth factor 23Recurrent genetic eventsHormone fibroblast growth factor 23Renal phosphate wastingFibroblast growth factor 23Autocrine/paracrine signaling loopTubular phosphate reabsorptionProgressive muscle weaknessProximal tubular phosphate reabsorptionConstellation of symptomsMolecular genetic aspectsBone painCalcitriol therapyCurative surgeryOncogenic osteomalaciaOffending tumorRare causeSurgical removalClinical featuresPrimary treatment