2012
FGF23 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
2010
Regulation of Phosphate Homeostasis by PTH, Vitamin D, and FGF23
Bergwitz C, Jüppner H. Regulation of Phosphate Homeostasis by PTH, Vitamin D, and FGF23. Annual Review Of Medicine 2010, 61: 91-104. PMID: 20059333, PMCID: PMC4777331, DOI: 10.1146/annurev.med.051308.111339.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsParathyroid hormoneDentin matrix protein 1Regulation of phosphate homeostasisVitamin DPhosphate homeostasisFibroblast growth factor 23Serum phosphorus levelsGrowth factor 23Renal phosphate excretionSecretion of FGF23Secretion of parathyroid hormoneSodium-phosphate cotransporters NaPi-IIaCotransporter NaPi-IIaIncreases renal phosphate excretionGenetically engineered miceRegulation of calcium homeostasisHomologies to endopeptidasesKidney axisMatrix protein 1Sodium-phosphate cotransporter NaPi-IIaFactor 23Serum phosphorusPhosphate excretionParathyroid glandsHormonal bone-parathyroid-kidney axis
2009
Disorders of Phosphate Homeostasis and Tissue Mineralisation
Bergwitz C, Jüppner H. Disorders of Phosphate Homeostasis and Tissue Mineralisation. Endocrine Development 2009, 16: 133-156. PMID: 19494665, PMCID: PMC3810012, DOI: 10.1159/000223693.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsDisorders of phosphate homeostasisPhosphate homeostasisFibroblast growth factor 23Secretion of parathyroid hormoneAbnormal phosphate homeostasisDentin matrix protein 1Tissue mineralizationGrowth factor 23Co-receptor KlothoBone-kidney axisReabsorption of phosphateExpression of FGF23Renal proximal tubulesHomologies to endopeptidasesMatrix protein 1Phosphate-regulating geneCirculating phosphate concentrationClinical presentationFactor 23Parathyroid hormoneUDP-N-acetyl-alpha-D-galactosamineParathyroid glandsDiagnostic evaluationProximal tubulesD-galactosamine