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
Basal Ganglia Calcification in Hypoparathyroidism Is Associated With Low Serum Calcium/Phosphate Ratio
Zavatta G, Tebben P, Clarke B. Basal Ganglia Calcification in Hypoparathyroidism Is Associated With Low Serum Calcium/Phosphate Ratio. Journal Of The Endocrine Society 2021, 5: a255-a256. PMCID: PMC8091468, DOI: 10.1210/jendso/bvab048.519.Peer-Reviewed Original ResearchHead CT scanBasal ganglia calcificationNon-surgical hypoparathyroidismCT scanPrevalence of basal ganglia calcificationsHead CTSerum calciumAssociated with lower serum calciumCalcium x phosphate productRisk factorsAverage serum calciumComplications of hypoparathyroidismDuration of hypoparathyroidismHead CT-Scan imageLow serum calciumPost-surgical hypoparathyroidismCohort of patientsIncreased serum phosphateCardiovascular risk factorsDiagnosis of hypoparathyroidismMedical record reviewCalcium/phosphate ratioSerum phosphateCase seriesCase report