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
2019
Clinical and Biochemical Phenotypes in a Family With ENPP1 Mutations
Kotwal A, Ferrer A, Kumar R, Singh RJ, Murthy V, Schultz-Rogers L, Zimmermann M, Lanpher B, Zimmerman K, Stabach PR, Klee E, Braddock DT, Wermers RA. Clinical and Biochemical Phenotypes in a Family With ENPP1 Mutations. Journal Of Bone And Mineral Research 2019, 35: 662-670. PMID: 31826312, PMCID: PMC7771569, DOI: 10.1002/jbmr.3938.Peer-Reviewed Original ResearchConceptsAutosomal recessive hypophosphatemic rickets type 2Biallelic mutationsMonoallelic mutationsPrimary hyperparathyroidismPathogenic variantsCarotid intima-media thicknessClassic disease manifestationsNormocalcemic primary hyperparathyroidismC-terminal FGF23Intima-media thicknessWhole-exome sequencingClinical findingsArterial calcificationPeriarticular calcificationSpectrum of phenotypesIntact FGF23Disease manifestationsBilateral femursENPP1 variantsBone deformitiesBiochemical manifestationsType 2ENPP1 geneExome sequencingHyperparathyroidism
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