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