2024
An update on clinical presentation and responses to therapy of patients with hereditary hypophosphatemic rickets with hypercalciuria (HHRH)
Zhu Z, Bo-Ran Ho B, Chen A, Amrhein J, Apetrei A, Carpenter T, Lazaretti-Castro M, Colazo J, McCrystal Dahir K, Geßner M, Gurevich E, Heier C, Simmons J, Hunley T, Hoppe B, Jacobsen C, Kouri A, Ma N, Majumdar S, Molin A, Nokoff N, Ott S, Peña H, Santos F, Tebben P, Topor L, Deng Y, Bergwitz C. An update on clinical presentation and responses to therapy of patients with hereditary hypophosphatemic rickets with hypercalciuria (HHRH). Kidney International 2024, 105: 1058-1076. PMID: 38364990, PMCID: PMC11106756, DOI: 10.1016/j.kint.2024.01.031.Peer-Reviewed Original ResearchResponse to therapyHereditary hypophosphatemic ricketsPathogenic variantsBone phenotypeSerum phosphateHypophosphatemic ricketsHeterozygous carriersPartial response to therapyPredicting response to therapyRare group of disordersIntact parathyroid hormoneUrine calcium excretionCorrection of hypophosphatemiaSolute carrier familyDecreased serum phosphateBaseline disease severityVariants in vitroOral phosphate supplementationNormalize serum phosphateStandard of careGroup of disordersMutant allelesCarrier familyBiochemical phenotypeKidney phenotype
2021
Phosphorus bioaccessibility measured in four amino acid–based formulas using in-vitro batch digestion translates well into phosphorus bioavailability in mice
Chande S, Dijk F, Fetene J, Yannicelli S, Carpenter TO, van Helvoort A, Bergwitz C. Phosphorus bioaccessibility measured in four amino acid–based formulas using in-vitro batch digestion translates well into phosphorus bioavailability in mice. Nutrition 2021, 89: 111291. PMID: 34111672, PMCID: PMC8588148, DOI: 10.1016/j.nut.2021.111291.Peer-Reviewed Original ResearchConceptsPhosphorus bioavailabilityAmino acid-based formulaProton pump inhibitorsDigestion modelBioavailability analysisPlasma phosphorus levelsLow phosphorus dietDigestion conditionsBioaccessibilityBioavailabilityStomach acidificationDigestive conditionsIntact fibroblast growth factor 23Phosphorus dietFibroblast growth factor 23Stomach pH.Intact parathyroid hormoneAcid-suppressive medicationsDihydroxy vitamin DGrowth factor 23Phosphorus levelsPhosphorus bioaccessibilityAcidificationPhosphorusIntact fibroblast growth factor