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
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