2023
Hereditary Hypophosphatemic Rickets with Hypercalciuria Presenting with Enthesopathy, Renal Cysts, and High Serum c-Terminal FGF23: Single-Center Experience and Systematic Review
Dodamani M, Memon S, Karlekar M, Lila A, Khan M, Sarathi V, Arya S, Jamale T, Thakare S, Patil V, Shah N, Bergwitz C, Bandgar T. Hereditary Hypophosphatemic Rickets with Hypercalciuria Presenting with Enthesopathy, Renal Cysts, and High Serum c-Terminal FGF23: Single-Center Experience and Systematic Review. Calcified Tissue International 2023, 114: 137-146. PMID: 37981601, DOI: 10.1007/s00223-023-01156-2.Peer-Reviewed Original ResearchConceptsSingle-center experienceHereditary hypophosphatemic ricketsRenal calcificationSLC34A3 mutationsSystematic reviewHypophosphatemic ricketsLow bone mineral densityC-terminal FGF23Median age 38 yearsBone mineral densityIron deficiency anemiaPhenotype-genotype correlationAge 38 yearsDisorders of phosphate homeostasisRickets/osteomalaciaNon-truncating variantsLow BMDNormal BMDBone involvementDeficiency anemiaSingle-centerMineral densityCase seriesElevated FGF23Initial misdiagnosis
2020
Targeted FGFR Blockade for the Treatment of Tumor-Induced Osteomalacia
Hartley IR, Miller CB, Papadakis GZ, Bergwitz C, Del Rivero J, Blau JE, Florenzano P, Berglund JA, Tassone J, Roszko KL, Moran S, Gafni RI, Isaacs R, Collins MT. Targeted FGFR Blockade for the Treatment of Tumor-Induced Osteomalacia. New England Journal Of Medicine 2020, 383: 1387-1389. PMID: 32905668, PMCID: PMC7561341, DOI: 10.1056/nejmc2020399.Peer-Reviewed Original ResearchMeSH KeywordsAgedChondrosarcoma, MesenchymalDisease ProgressionFatal OutcomeFibroblast Growth Factor-23Fibroblast Growth FactorsHumansMaleMolecular Targeted TherapyNeoplasms, Connective TissueOsteomalaciaParaneoplastic SyndromesPhenylurea CompoundsPositron Emission Tomography Computed TomographyPyrimidinesReceptor Protein-Tyrosine KinasesReceptor, Fibroblast Growth Factor, Type 1
2011
Case 33-2011 — A 56-Year-Old Man with Hypophosphatemia
Bergwitz C, Collins MT, Kamath RS, Rosenberg AE. Case 33-2011 — A 56-Year-Old Man with Hypophosphatemia. New England Journal Of Medicine 2011, 365: 1625-1635. PMID: 22029985, PMCID: PMC4907641, DOI: 10.1056/nejmcpc1104567.Peer-Reviewed Original Research